Single Member Publications (By Year)
2010
Bakker M, de Walle H, Wilffert and de Jong-van den Berg L (2010), "Fluoxetine and Infantile Hypertrophic Pylorus Stenosis: A Signal from a Birth Defects - Drug Expsoure Surveillance Study", Pharmacoepidemiology and Drug Safety, DOI: 10.1002/pds.1964
Bakker MK (2010), "Increased Risk of Septal Heart Defects in Newborns as a Result of Sertraline and Citalopram Intake During Pregnancy", Evidence Based Mental Health, BMJ, Vol 13, No 2, pp 58.
Bergman JEH, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH and van Ravenswaaij-Arts CMA (2010), "Death in CHARGE Syndrome After the Neonatal Period", Clinical Genetics, Vol 77, pp 232-240.
Jentink J, Bakker M, Nijenhuis, Wilffert, de Jong-van den Berg L (2010), "Does Folic Acid Use Decrease the Risk for Spina Bifida After In Utero Exposure to Valproic Acid?", Pharmacoepidemiology and Drug Safety, DOI: 10.1002/pds.1975
Tennant PWG, Pearce MS, Bytell M, Rankin J (2010), "20-Year Survival of Children Born with Congenital Anomalies: A Population-Based Study", Lancet, DOI: 10.1016/S0140-6736(09)61922-X
van Spaendonck-Zwarts KY, van Hessem L, Jongfloed JDH, de Walle HEK, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP (2010), "Desmin-Related Myopathy: A Review and Meta-Analysis", Clinical Genetics, DOI: 10.1111/j.1399-0004.2010.01512.x
Wertelecki W (2010), "Malformations in a Chornobyl-Impacted Region", Pediatrics, Vol 125, pp e836-e843.
2009
Bakker MK, Kerstjens-Frederikse WS, Buy CHCM, de Walle, HEK, de Jong-van den Berg LTW (2009), "First Trimester Sue of Paroxetine and Congenital Heart Defects: A Population-Based Case-Control Study", Birth Defects Research Part A: Clinical and Molecular Teratology, DOI:10.1002/bdra.20641
Bakker MK (2009), "The Use of a Birth Defects Case-Control Monitoring System in Studying the Safety of Medication Use in Pregnancy", University of Groningen, ISBN 978-90-367-4033-3.
Bianchi F (2009), "From Descriptive Studies Towards Epidemiologic Surveillance" Epidemiol Prev, Vol 33, No 3 Suppl 1, pp 127-32.
Birnbaum, S; Reutter, H; Mende, M; Assis, NA; Diaz-Lacava, A; Herms, S; Scheer, M; Lauster, C; Braumann, B; Schmidt, G; Martini, M; Hemprich, A; Pötzsch, S; Knapp, M; Nöthen, Markus M; Kramer, FJ; Mangold, E: Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. European journal of oral sciences. - Oxford: Blackwell Munksgaard, Bd. 117.2009, 2, S. 200-203 (http://www3.interscience.wiley.com/journal/122262898/abstract?CRETRY=1&SRETRY=0)
Birnbaum, S; Ludwig, KU; Reutter, H; Herms, S; Steffens, M; Rubini, M; Baluardo, C; Ferrian, M; Assis, NA; Alblas, MA; Barth, S; Freudenberg, J; Lauster, C; Schmidt, G; Scheer, M; Braumann, B; Bergé, SJ; Reich, RH; Schiefke, F; Hemprich, A; Pötzsch, S; Steegers-Theunissen, RP; Pötzsch, B; Moebus, S; Horsthemke, B; Kramer, FJ; Wienker, TF; Mossey, PA; Propping, P; Cichon, S; Hoffmann, P; Knapp, M; Nöthen, MM; Mangold, E: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. (http://www.nature.com/ng/journal/v41/n4/abs/ng.333.html)
Birnbaum S, Ludwig KU, Reutter H, Herms S, de Assis NA, Diaz-Lacava A, Barth S, Lauster C, Schmidt G, Scheer M, Saffar M, Martini M, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Pötzsch B, Wienker TF, Hoffmann P, Knapp M, Kramer F-J, Nöthen MM, Mangold E. IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 2009; 117: 766–769. (http://www3.interscience.wiley.com/journal/122683247/abstract)
del Carmen Saucedo M, de Vigan C, Vodovar V, Lelong N, Goffinet F, Khoshnood B (2009), "Measurement of Nuchal Translucency and the Prenatal Diagnosis of Down Syndrome", Obstet Gynecol, Vol 114, No 4, pp 829-838.
Hodgson S, Shirley MS, Bythell M, Rankin J (2009), "Residential Mobility During Pregnancy in teh North of England", BMC Pregnancy and Childbirth, Vol 9, pp 52.
Magyar A, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor MC, Berger W, Carrel T, Steinmann B, Matyas G (2009), "Quantitative Sequence Analysis of FBN1 Premature Termination Codons Provides Evidence for Incomplete NMD in Leukocytes", Hum Mutat, Vol 30, No 9, pp 1355-1364.
Martuzzi M, Mitis F, Bianchi F, Minichilli F, Comba P, Fazzo L (2009), "Cancer Mortality and Congenital Anomalies in a Region of Italy with Intense Environmental Pressure Due to Waste", Occup Environ Med, Vol 66, No 11, pp 725-32., "Parental Attitude to Participating in Long-term Follow-up Studies of their Children's Health After In-Utero Diagnosis of Abnormalities", Prenatal Diagnosis, Vol 29, pp 207-212.
Pharoah P, Glinianaia SV, Rankin J (2009), "Congenital Anomalies in Multiple Births After Early Loss of a Conceptus", Human Reproduction, Vol 24, pp 726-731.
Poetzsch S, Hoyer-Schuschke J (2009), "Angeborene Fehlbildungen - Hintergrundwissen fur die Beratung der Eltern", Die Habamme - Stuttgart: Hippokrates-Verl in MVS, Med-Verl, Bd 22, Vol 2, pp 88-94.
(http://www.thieme-connect.de/ejournals/abstract/hebamme/doi/10.1055/s-0029-1233335)
Ramsey L, Howe DT, Wellesley D (2009), "Parental Attitude to Participating in Long-term Follow-up Studies of their Children's Health After In-Utero Diagnosis of Abnormalities", Prenatal Diagnosis, Vol 29, pp 207-212.
Rankin J, Chadwick T, Natarajan M, Howel D, Pearce MS, Pless-Mulloli T (2009), "Maternal Exposure to Ambient Air Pollution and Risk of Congenital Anomalies", Environmental Research, Vol 109, pp 181-187.
Saucedo M, de Vigan C, Vodovar V, Lelong N, Goffinet F, Khoshnood B (2009), "Measurement of Nuchal Translucency and the Prenatal Diagnosis of Down Syndrome", Obstet Gynecol, Vol 114, pp 829-838.
Sikkens JJ, van Eijsden M, Bezemer PD, Bakker MK, Bonsel GJ, van der Wal MF, Cornel MC (2009), "Congenitale afwijkingen in Amsterdam", Ned Tijdschr Geneeskd, Vol 153, pp B433-439.
van Beynum IM, Kapusta L, Bakker MK, den Heijer M, Blom HJ, de Walle HEK (2009), "Protective Effect of Perinconceptional Folic Acid Supplements on the Risk of Congenital Heart Defects: A Registry-Based Case-Control Study in the Northern Netherlands", European Heart Journal, DOI:10.1093/eurheartj/ehp479
Vos YJ, de Walle HEK, Bos KK et al (2009), "Genotype-phenotype Correlations in L1 Syndrome: A Guide for genetic Counselling and Mutation Analysis", Journal of Medical Genetics [e-pub DOI: 10.1136/jmg.2009.071688] Nature genetics. - New York, NY: Nature America, Bd. 41.2009, 4, S. 473-477.
2008
Bade A, Rohden L von, Hoyer-Schuschke J, Pötzsch S (2008), "Ultraschallscreening des Schädels bei Neugeborenen - Pro und Kontra", Päd Praktische Pädiatrie, Vol 14, No 3, pp 178-188.
Bakker MK, de Walle HEK, de Jong van den Berg LTW (2008), "Reply to Martinez-Frias and Rodriguez-Pinilla", Birth Defects Research (Part A): clinical and Molecular Teratology, Vol 82, pp 175.
Blythe M, Howe D, Gnanapragasam J, Wellesley D (2008) "The Hidden Mortality of Transposition of the Great Arteries and Survival Advantage Provided by Prenatal Diagnosis", BJOG, Vol 115, No 9, pp 1096-100.
Bythell M, Bell R, Taylor R, Zalweski S, Wright C, Rankin J, Ward Platt M (2008), "The Contribution of Late Termination of Pregnancy to Stillbirth Rates in Northern England, 1994-2005", BJOG: An International Journal of Obstetrics & Gynaecology, Vol 115, pp 664-666.
Congenital Anomaly Register & Information Service for Wales (2008), "CARIS Review: 10 years of Reporting", CARIS, Singleton Hospital.
Cornel MC, de Walle, HEK, GRJ Zandwijken, Anthony S, ten Kate LP (2008), "De Geschiedenis van de Registratie en Frequentiebewaking van Aangeboren Afwijkingen in Nederland", tsg Jaargang, No. 2, pp 86-91.
Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J (2008), "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome", Clin Genet, Vol 73, No 2, pp 139-145.
Dadvand P, Rankin J, Shirley MPS, Pless-Mulloli T, Rushton S (2008), "Descriptive Epidemiology of Congenital Heart Diseases in Northern England: A 19 Year Register-Based Study", Paediatric & Perinatal Epidemiology, Vol 23, pp 58-65.
Fazzo L, Belli S, Minichilli F, Mitis F, Santoro M, Martina L, Pizzuti R, Comba P, Martuzzi M, Bianchi F and the Working Group (2008), "Cluster Analysis of Mortality and Malformations in the Provinces of Naples and Caserta (Campania Region)", Ann Ist Super Sanita, Vol 44, No 1, pp 99-111.
Fillingham A, Rankin J (2008), Prevalence, Prenatal Diagnosis and Survival of Gastroschisis", Prenatal Diagnosis, Vol 28, pp 1232-1237.
Hoyer-Schuschke J, Pötzsch S, Böttger R, Herrmann K, Rohden L von, Gleißner M (2008), "Kongenitale alveolar-kapilläre Dysplasie. Seltene Ursache der persistierenden pulmonalen Hypertension beim Neugeborenen", Monatsschrift Kinderheilkunde, Vol 156, No 1, pp 57-62.
de Vigan C, Khoshnood B, Cadio E, Vodovar V, Goffinet F (2008), "Diagnostic Prenatal et Prevalence de la Trisomie 21 dans la Population Parisienne, 2001-2005", Gynecol Obstet Fertil, Vol 36, pp 146-150.
Door Arend van Wijngaarden (2008), "Aantal Baby's met Afwijking daalt fors", Dagblad van her Noorden, 8 March 2008.
Draper E, Rankin J, Tonks A, Abrams KR, Field D, Clarke M, Kurinczuk JJ (2008), "Recreational Drug Use - A Major Risk Factor for Gastroschisis?", American Journal of Epidemiology, Vol 167, pp 485-491.
Glininanaia SV, Rankin J, Wright C (2008), "Congenital Anomalies in Multiple Pregnancies", Human Reproduction, Vol 23, pp 1306-1311.
Hoyer-Schuschke J, Pötzsch S, Böttger R, Herrmann K, Rohden L von, Gleißner M (2008), "Kongenitale alveolar-kapilläre Dysplasie. Seltene Ursache der persistierenden pulmonalen Hypertension beim Neugeborenen", Monatsschrift Kinderheilkunde, Vol 156, No 1, pp 57-62
[http://www.springerlink.com/content/j2m43054g33376u2/?p=30dac65f288740da9607388819d1cb2f&pi=10]
Irving C, Basu A, Richmond S, Burn J (2008), "Twenty-Year Trends in Prevalence and Survival of Down Syndrome", European Journal of Human genetics, Vol 16, pp 1336-1340.
Khoshnood B, de Vigan C, Blondel B, Vodovar V, Cadio D, Goffinet F (2008), "Long-Term Trends for Socioeconomic Differences in Prenatal Diagnosis of Down Syndrome: Diffusion of Services or Persistence of Disparities?", BJOG, Vol 115, pp 1087-1095.
Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis SE, Beckmann JS and Bena F (2008), "Subtelomeria 6p Deletion: Clinical and Array-CGH Characterization in two Patients", American Journal of Medical Genetics PArt A, Vol 146A, pp 2094-2102.
Martínez-Frías ML, Grupo de trabajo del ECEMC (2008), "Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?", Am J Med Genet, Vol A146, No 1, pp 26-34.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, y Grupo de Trabajo del ECEMC (2008), "Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants", Am J Med Genet A, Vol 146, No 1, pp 15-25.
Martínez-Frías ML, Rodríguez-Pinilla E (2008), "Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects", Birth Defects Res A Clin Mol Teratol, Vol 82, No 3, pp 173-174 (author reply 175).
Martínez-Frías ML (2008), "The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome", Am J Med Genet, Vol 146A, pp 1477-1482.
Martínez-Frías ML (2008), "Genetic Drift: The Balance of Nature: Reflections on the physics and mathematics structure of the living world and the human genome", Am J Med Genet, Vol 146A, pp 1781-1787.
McNally R, Rankin J, Shirley MDF, Rushton S, Pless-Mulloli T (2008), "Space-Time Clustering of Down Syndrome: Results Consistent with Transient Predisposing Contagious Agent", International Journal of Epidemiology, Vol 37, pp 1169-1179.
Morris JK, Savva G (in press), "The Risk of Fetal Loss Following a Prenatal Diagnosis of Trisomy 13 or Trisomy 18", American Journal of Medical Genetics.
Pötzsch S, Jira P (2008), "Smith-Lemli-Opitz-Syndrom - von der Diagnose zur Therapie". In: Starke, I., Mohnike, K. (Hrsg.): Cholesterin - zwischen Mangel und Überfluss. 20. Jahrestagung 2006 der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS). Fulda: APS, pp 46-63.
Pötzsch S, Vorwerk W, Rasinski C, Starke I, Hoyer-Schuschke J (2008), "Angeborene Hörstörungen unter besonderer Berücksichtigung der Einführung des Neugeborenenhörscreening-Tracking in Sachsen-Anhalt", Ärzteblatt Sachsen-Anhalt, Vol 19, No 5, pp 18-20 + 49-50.
http://www.aerzteblatt-sachsen-anhalt.de/02/index.php?option=com_content&task=view&id=425&Itemid=185&phpMyAdmin=HGxNlLiAcAL1d5KorESIUn5MZO4
Rankin J, Silf K, Pearce MS, Parker L, Ward Platt M (2008), "Congenital Anomaly and Childhood Cancer: A Population-Based, record Linkage Study", Paediatric Blood & Cancer, Vol 51, pp 608-612.
Rodríguez L, Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML (2008), "Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects", Clin Dysmorphol, Vol 17, pp 5-12.
Rodríguez L, Liehr T, Martínez-Fernández ML, Lara A, Torres A, Martínez-Frías ML (2008), "A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man", Molecular Cytogenetics, Vol 1, pp 4. doi:10.1186/1755-8166-1-4.
Salerno P, Bianchi F, Pierini A, Baldi F, Carbone P, Mantovani A, Taruscio D (2008), "Folic Acid and Congenital Malformation: Scientific Evidence and Public Health Strategies", Ann Ig, Vol 20, No 6, pp 519-30.
Savva G, Morris JK (2008), "Ascertainment and Accuracy of Down Syndrome Cases Reported in Congenital Anomaly Registers in England and Wales", Arch Dis Child Fetal Neonatal Ed.
Swamy R, Embleton N, Hale J (2008), "Scrococcygeal Teratoma over Two Decades, Birth Prevalence, Prenatal Diangosis and Clinical Outcomes", Prenatal diangosis, Vol 28, pp 1048-1051.
Wren D, Reinhardt Z et al (2008), "Twenty Year Trends in Diagnosis of Life-Threatening Neonatal Cardiovascular Malformations", Archives of Diseases in Childhood Fetal and Neonatal Edition, Vol 93, pp 33-35.
2007
Bakker MK, de Walle HEK, Dequito A, van den Berg PB and de Jong-van den Berg LTW (2007), "Selection of Controls in Case-Control Studies on Maternal Medication Use and Risk of Birth Defects", Birth Defects Research (Part A), Vol 79, pp 652-656.
Bakker MK, Kolling P, van den Berg PB, de Walle, HEK and de Jong van den Berg LTW (2007), "Increase in Use of Selective Serotonin Reuptake Inhibitors in Pregnancy During the Last Decade, a Population-Based Cohort from the Netherlands", British Journal of Clinical Pharmacology. [DOI: 10.1111/j.1365.2007.03048.x]
Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernández ML, Martínez-Frías ML, Fryns JP, Vermeesch JR (2007), "Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation", J Med Genet, Vol 44, pp 250-256.
de Walle H and de Jong-van den Berg LTW (2007), "Growing Gap in Folic Acid Intake with respect to Level of Education in the Netherlands", Community Genetics, Vol 10, pp 93-96.
de Walle H, de Jong van den Berg LTW (2007), "Ten Years After the Dutch Public Health Campaign on Folic Acid: The Continuing Challenge", Eur J Clin Pharmacol. [DOI 10.1007/s00228-007-0446-6]
Felix JF, Steegers-Theunissen RPM, de Walle H, de Klein A, Torfs CP and Tibboel D (2007), "Esophageal Atresia an Tracheosophageal Fistula in Children of Women Exposed to Diethylstilbestrol in Utero", American Journal of Obstetrics & Gynecology, Vol 38, pp e1-e5.
Frías JL, Frías JP, Frías PA, Martínez-Frías ML (2007), "Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus", Am J Med Genet Part A, Vol 143A, pp 2904-2909.
Frutos de CA, Vega S, Manzanares M, Flores JM, Huertas H, Martínez-Frías ML, Nieto MA (2007), "Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias", Dev Cell, Vol 13, pp 872-883.
Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ (2007), "Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome", Eur J Med Gene, Vol 50, No 2, pp 144-148.
Hemming V, Rankin J (2007), "Small Intestinal Atresia in a Defined Population: Occurrence, Clinical Outcomes and Antenatal Diagnosis", Prenatal Diagnosis, Vol 27, pp 1205-1211.
Martínez-Frías ML (2007), "Postmarketing analysis of medicines: Methodology and value of the Spanish case-control study and surveillance system in preventing birth defects", Drug Safety, Vol 30, No 4, pp 307-316.
Minichilli F, Bartolacci S, Buiatti E, Bianchi F (2007), "Evaluation of the Health Impact of a Waste-to-Energy Incinerator", Epidemiol Prev, Vol 31, No 1 Suppl 2, pp 35-41.
Morris JK, Wald NJ (2007), "Prevalence of Neural Tube Defect Pregnancies in England and Wales from 1964 to 2004", Journal of Medical Screening , Vol 14, pp 55-59.
Morris JK, Wald NJ (2007), "Estimating the Risk of Down's Syndrome in Antenatal Screening and the Gestation at Which this Risk Applies", Journal of Medical Screening, Vol 14, No 1, pp 5-7.
Pötzsch S, Hoyer-Schuschke J, Köhn A (2007), "Gibt es Prävalenzänderungen bei den Neuralrohrdefekten? - 10 Jahre Empfehlung zur perikonzeptionellen Folsäureprophylaxe", MedReview : die Zeitschrift für ärztliche Fortbildungskongresse, Vol 8, No 6, pp 6-7. [http://www.medreports.de/medpdf07/medreview06_07.pdf]
Pötzsch S, Hoyer-Schuschke J, Köhn A, Vogt C, Götz D, Haase M, Großberndt S (2007), "Jahresbericht des Bundeslandes Sachsen-Anhalt zur Häufigkeit von congenitalen Fehlbildungen und Anomalien sowie genetisch bedingten Erkrankungen 2006", Fehlbildungsmonitoring Sachsen-Anhalt an der Medizinischen Fakultät der Otto-von-Guericke-Universität Magdeburg. Ministerium für Gesundheit und Soziales des Landes Sachsen-Anhalt. Magdeburg. [http://www.angeborene-fehlbildungen.com]
Rasinski C, Vorwerk W, Pötzsch S, Bartel-Friedrich S, Neumann K (2007), "Newborn hearing screening in Saxony-Anhalt - current state", Archives of Perinatal Medicine, Vol 13, No 2, pp 48-49. [http://www.ptmp.pl/archives/apm/13-2/APM_132-10.pdf]
Rodríguez L, Zollino M, Mansilla E, Martínez-Fernández ML, Pérez P, Murdolo M, Martínez-Frías ML (2007), "Clinical Report: The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history", Am J Med Genet Part A, Vol 143A, pp 995-998.
Rodríguez L, Liehr T, Mrasek K, Mansilla E, Martínez-Fernández ML, García A, Martínez-Frías ML (2007), "Clinical Report: Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review", Am J Med Genet Part A, Vol 143A, pp 2727-2732.
Rohden L von, Wien F, Pötzsch S (2007), "Myosonographie neuromuskulärer Erkrankungen unter besonderer Berücksichtigung des Kindes- und Jugendalters", Klinische Neurophysiologie: Zeitschrift für Funktionsdiagnostik des Nervensystems; Organ der Deutschen Gesellschaft für Klinische Neurophysiologie, Vol 38, No 2, pp 141-150.
[http://www.thieme-connect.de/ejournals/pdf/klinneuro/doi/10.1055/s-2007-970904.pdf]
Rouhani P, Fleming LE, Frías J, Martínez-Frías ML, Bermejo E, Mendioroz J (2007), "Pilot study of socio-economic class, nutrition and birth defect in Spain", Matern Child Health J, Vol 11, No 4, ppp 403-405.
Seliger G, Kantelhardt E, Keller U, Eder K, Pötzsch S, Röpke F, Scheler C (2007), "L-carnitine level in neonates - a large, retrospective analysis", Archives of Perinatal Medicine, Vol 13, No 2, pp 17-20. [http://www.ptmp.pl/archives/apm/13-2/APM_132-2.pdf]
Tönnies H, Pietrzak J, Bocian E, Macdermont K, Kuechler A, Belitz B, Trautmann U, Schmidt A, Schulze B, Rodríguez L, Binkert F, Yardin C, Kosyakova N, Volleth M, Mkrtchyan H, Schreyer I, von Eggeling F, Weise A, Mrasek K, Liehr T (2007), "New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome (sSMC): Towards the Establishment of a Cell Bank", J Histochem Cytochem, Vol 55, No 6, pp 651-660.
2006
Artama M, Ritvanen A, Gissler M, Isojarvi J and Auvinen A (2006), "Congenital Structural Anomalies in Offspring of Women with Epilepsy - A Population-Based Cohort Study in Finland", International Journal of Epidemiology, Vol 35, pp 280-287.
Bakker MK, Jentink J, Vroom F, Van Den Berg PB, De Walle HEK, De Jong-van Den Berg LTW (2006), "Drug Prescription Patterns Before, Druing and After Pregnancy for Chronic, Occasional and Pregnancy-Related Drugs in the Netherlands", International Journal of Obstetrics and Gynaecology, Vol 113, pp 559-568.
Bermejo E, Mendioroz J, Cuevas L, Martínez-Frías ML (2006), "The incidence of gastroschisis: Is also increasing in Spain particularly among babies of young mothers. (Letter to the Editor)", BMJ, Vol 332, No 7538, pp 424.
Bianca S, Bartoloni G, et al. (2006) "Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis." Cardiology, Vol 105, No 1: pp 37-40.
Bianchi F, Binaca S, Dardanoni G, Linzalone N, Pierini A (2006), "Congenital Malformations in Newborns Residing in the Municipality of Gela (Sicily, Italy)", EP Anno, Vol 30, No 1, pp 19-26. [Article]
Bianchi F (2006), "Syndial Offers Reimbursement to Women of Augusta-Priolo (Sicily) Who Had Abortions or Malformed Babies", Epidemiol Prev, Vol 30, No 2, pp 76-7.
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Curtis Rogers R, Sanchis A, Stephenson JBP, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Geoffrey Woods C, Lebon P, Bonthron DT, Ponting CP, Jackson AP (2006), "Mutations in genes enconding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection", Nature Genetics, Vol 38, pp 910-916.
de Vigan C, Khoshnood B, Vodovar V, Chausson M, Mahamadaly S, Cadio E, Goffinet F (2006), "Epidémiologie des Malformations Cardiaques Congénitales. Pourrquoi Réaliser une Etude Prospective en Population (EPICARD)?" Médecine Foetale et Echographie en Gynécologie, Vol 68, pp 20-25.
Garne E (2006), "Atrial and Ventricular Septal Defects - Epidemiology and Spontaneous Closure", Journal of Maternal-Fetal and Neonatal Medicine, Vol, 19, No 5, pp 271-276.
Khoshnood B, de Vigan C, Blondel B et al (2006), "Women's Interpretation of an Abnormal Result on Measurement of Fetal Nuchal Translucency and Maternal Serum Screening for Prenatal Testing of Down Syndrome", Ultrasound Obstet Gynecol, Vol 28, pp 242-248.
Khoshnood B, de Vigan C, Vodovar V, Breart G, Goffinet F, Blondel B (2006), "Advances in Medical Technology and Creation of Disparities: The Case of Down Syndrome. Am J Public Health, Vol 96, pp 2139-2144.
Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, Von Eggeling F, Starke H (2006), "Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation", Cytogenet Genome Res, Vol 112, pp 23-34.
Martínez-Frías ML (2006), "Folic acid: A Public Health challenge (letter to the Editor)", Lancet, Vol 367, No 9528, pp 2057.
Martínez-Frías ML, Bermejo E (2006), "Do we have enough evidences to consider that infertility treatments may not be causally related with congenital anomalies in newborn infants? (Letter to the Editor)", BMJ, (17 Noviembre).[http://www.bmj.com/cgi/eletters/333/7570/665]
Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M and ECEMC Working Group (2006), "Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?", Am J Med Genet Part A, Vol 140A, pp 987-997.
Meijer WM, de Jong-van den Berg L, van den Berg MD, Verheij JBGM, de Walle, HEK (2006), "Clomiphene and Hypospadias on a detailed Level: Signal or Change?", Birth Defects Research (Part A): Clinical and Molecular Teratology, Vol 76, pp 249-252.
Morris JK, Alberman E, Mutton D (2006), "The Proportions of Down's Syndrome Pregnancies Detected Prenatally in England and Wales from 1989 to 2004", Journal of Medical Screening, Vol 13, No 4, pp 163-165.
Morris JK, Mutton D, Alberman E (2006), "Rates of Down Syndrome at the Upper Extreme of Maternal Age: Considerations and Recommendations in Analysis [comment]", Prenatal Diagnosis, Vol 16, No 11, pp 1091.
Niessen RC, Berends MJW, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJL, de Walle HEK, de Vries EGE, Karrenbeld A, Buys CHCM, van der Zee AGJ, Hofstra RMW, Kleibeuker JH (2006), "Identification of Mismistch Repair Gene Mutations in Young Patients with Colorectal Cancer and in Patients with Multiple Tumours Associated with Hereditary Non-Polyposis Colorectal Cancer", British Medical Journal, Vol 55, pp 1781-1788.
Pakkasjarvi N, Ritvanen A, Herva R, Peltonen L, Kestila M and Ignatius J (2006), "Lethal Congenital Contracture Syndrome (LCCS) and Other Lethal Arthrogryposes in Finland - An Epidemiological Study", American Journal of Medical Genetics (Part A), Vol 140A, pp 1834-1839.
Pierini A, Bianchi F, Salerno P e Taruscio D (2006), "National Registrer of Rare Diseases: Congenital Malformations and Folic Acid", Rapporti ISTISAN 06/34:1-114.
Savva G, Morris JK, Mutton DE, Alberman E (2006), "Maternal Age-Specific Fetal Loss Rates in Down Syndrome Pregnancies", Prenatal Diagnosis, Vol 26, pp 499-504.
Vroom F, de Walle HEK, van de Laar MAJF, Brouwers JRGJ and de Jong-van den Berg LTW (2006), "Disease-Modifying Antirheumatic Drugs in Pregnancy: Current Status and Implications of the Future", Drug Safety, Vol 29, No 10, pp 845-863.
2005
Addor MC (2005), "Prevalence des Cardiopathies Congenitales dans le Canton de Vaud et dans le Reseau Europeen Durant la Periode 1989-2003", Paediatrica, Vol 16, No 5, pp 19.
Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, von Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ (2005), "A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21", J Med Genet. Published online 20 May: doi:10.1136/mg.2005.031880.
Anumba D, Scott J, Plant N, Robson SC (2005), "Diagnosis and Outcome of Fetal Lower Urinary Tract Obstruction in the Northern Region of England", Prenatal Diagnosis, Vol 25, No 1, pp 7-13.
Artama M, Ritvanen A, Gissler M, Isojarvi J, Auvinen A (2005) "congenital Structural Anomalies in Offspring of Women with Epilepsy: A Population-Based Cohort Study in Finland", International Journal of Epidemiology, Vol 35, No 2, pp 280-287.
Bermejo E, Felix V et al (2005) "Craniofacial dyssynostosis: description of the first four Spanish cases and review." American Journal of Medical Genetics, Vol 132, No 1, pp 41-48.
Bermejo E, Lapunzina P, Galán E, Félix V, Soler V, Martínez-Frías ML (2005), "Correspondence: New findings in craniofacial dyssynostosis", Am J Med Genet, Vol 134A, pp 344-345.
Bianca S, Ingegnosi C et al (2005) "Prenatal and postnatal findings of acrania" Arch Gynecol Obstet, Vol 271, No 3, pp 256-258.
Bosshardt D, Ajdacic-Gross V et al (2005) "Season of birth in vavular heart disease." Paediatric and Perinatal Epidemiology, Vol 19, No 3, pp 246-252.
Calvert JK, Boyd PA et al (2005) "Outcome of antenatally suspected congenital cystic adenomatoid malformation of the lung: 10 years' experience 1991-2001." Archives of Diseases in Childhood Fetal Neonatal Ed, Vol 91, No 1, pp F26-F28.
Calzolari E and Baroncini A (2005) "International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna region, Italy." Community Genetics, Vol 8, No 2, pp 122-129.
Cecconi M, Forzano F et al (2005) "Mutation analysis of the NSD1 gene in a group fo 59 patients with congenital overgrowth." American Journal of Medical Genetics, Vol 134, No 3, pp 247-253.
Centini G, Rosignoli L, Scarinci R, Pierini A, Faldini E, Bianchi F, Centini GA and Scientific Secretariat of Tuscany Registry of Congenital Defects (2005), "Effect of Prenatal Diagnosis on Prevalence of Live Births with Down Syndrome in Tuscany (1992-2002), Italian Journal of Gynaecology and Obstetrics, Vol 17, No 1, pp 40-43.
Chevrier C, Perret C et al (2005) "Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: an evaluation of the contribution of child and maternal genotypes." Birth Defects Research A Clin Mol Teratol, Vol 73, No 2, pp 114-122.
Christiansen M and Garne E (2005) "Prevention of neural tube defects with periconceptional folic acid supplementation in Europe." Ugeskr Laeger, Vol 167, No 32, pp 2875-2876.
Ciccone R, Giorda R et al (2005) "Reciprocal translocations: a trap for cytogenetists?" Human Genetics, Vol 117, No 6, pp 571-582.
de Vigan C, Knoshnood B et al (2005) "Prevalence and Prenatal Diagnosis of Congenital Malformations in the Parisian Population: Twenty Years of Surveillance by the Paris Registry of Congenital Malformations." J Gynecol Obstet Biol Reprod (Paris), Vol 34, No 1, pp 8-16.
Della Monica M, Nazzaro A et al (2005) "Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature." Prenatal Diagnosis, Vol 25, No 5, pp 394-397.
Destree A, Fourneau C et al (2005) "Prenatal diagnosis of trisomy 6 mosaicism." Prenatal Diagnosis, Vol 25, No 5, pp 354-357.
Gallot D, Coste K et al (2005) "Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne (France)." European Journal of Obstetrics & Gynecology and Reproductive Biology. [e-pub ahead of print].
Gallot D, Marceau G et al (2005) "Congenital diaphragmatic hernia: a retinoid-signaling pathway disruption during lung development?" Birth Defects Research A Clin Mol Teratol, Vol 73, No 8, pp 523-531.
Garbis H, Elefant E et al (2005) "Pregnancy outcome after exposure to ranitidine and other H2-blockers. A collaborative study of the European Network of Teratology Information Services." Reproductive Toxicology, Vol 19, No 4, pp 453-458.
Ghassibe M, Bayet B et al (2005) "Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population." European Journal of Human Genetics, Vol 13, No 11, pp 1239-1242.
Goumy C, Beaufrere AM et al (2005) "Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype." Prenatal Diagnosis, Vol 25, No 8, pp 653-655.
Grati FR, Lalatta F et al (2005) "Three cases with de novo 6q imbalance and variable prenatal phenotype." American Journal of Medical Genetics, Vol 136, No 3, pp 254-258.
Haga HJ, Gjesdal CG et al (2005) "Pregnancy outcome in patients with primary Sjogren's syndrome. A case-control study." J Rheumatol, Vol 32, No 9, pp 1734-1736.
Howarth ES, Draper ES et al (2005) "Population-based study of the outcome following the prenatal diagnosis of cystic hygroma." Prenatal Diagnosis, Vol 25, No 4, pp 286-291.
Jaillet J, Robert-Gnansia E et al (2005) "Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency." Birth Defects Research A Clin Mol Teratol, Vol 73, No 3, pp 188-193.
Johansen MN and Garne E (2005) "Maternal diabetes and congenital malformations." Ugeskr Laeger, Vol 167, No 32, pp 2877-2879.
Kallen B and Robert-Gnansia E (2005) "Maternal drug use, fertility problems, and infant craniostenosis." Cleft Palate Craniofac J, Vol 42, No 6, pp 589-593.
Klemetti R, Gissler M, Sevon T, Koivurova S, Ritvanen A, Hemminki E (2005) "Children Born After Assisted Fertilization have an Increased Rate of Major Congenital Anomalies." Fertil Steril, Vol 84, No 5, pp 1300-1307.
Knoshnood B, De Vigan C et al (2005) "Trends in Prenatal Diagnosis, Pregnancy Termination, and Perinatal Mortality of Newborns with Congenital Heart Disease in France, 1983-2000: A Population-Based Evaluation." Pediatrics, Vol 115, No 1, pp 95-101.
Latos-Bielenska A, Materna-Kiryluk A and the PRCM Working Group (2005), "Polish Registry of Congenital Malformations - Aims and Organization of the Registry Monitoring 300,000 Births a Year", Journal of Applied Genetics, Vol 46, No 4, pp 341-348.
Linzalone N, Bianchi F (2005), "Studying Risks of Waste Landfill Sites on Human Health: Updates and Perspectives", Epidemiol Prev, Vol 29, No 1, pp 51-3.
Martinez-Frias ML, Frias JP et al (2005) "Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes." Diabet Med, Vol 22, No 6, pp 775-781.
Martinez-Frias ML, Rodriguez-Pinilla E et al (2005) "Tobacco smoking during pregnancy in Spain: an analysis according to years, autonomous communities and maternal characteristics." Med Clin (Barc), Vol 124, No 3, pp 86-92.
Martinez-Frias ML, Toral JF et al (2005) "Clinical Report: Growth deficiency, facial anomalies, and brachydactyly (Frias syndrome): a second family." American Journal of Medical Genetics, Vol 137, No 3, pp 288-291.
Martínez-Frías ML (2005), "Correspondence: The real earliest historical evidence of Down syndrome", Am J Med Genet, Vol 132A, pp 231.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Prieto L (2005), "Correspondence: MTHFR 677C-T Polymorphism is not excluded as maternal risk for Down syndrome among Turkish women", Am J Med Genet, Vol 134A, pp 461.
Meijer WM, de Walle HEK et al (2005) "Folic acid sensitive birth defects in association with intrauterine exposure to folic acid antagonists." Reproductive Toxicology, Vol 20, No 2, pp 203-207.
Meijer WM and de Walle HEK (2005), "Verschillen in Foliumzuurbeleid en Prevalentie van Neuralebuisdefecten in Europa: Aanbevelingen voor Voedselverrijking in een EUROCAT-Rapport", Ned Tijdschr Geneeskd, Vol 149, No 46, pp 2561-2564.
Mendioroz J, Fernandez-Toral J, et al (2005) "Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13." American Journal of Medical Genetics, Vol 135, No 2, pp 211-213.
Morris JK, De Vigan C et al (2005) "Risk of a Down syndrome live birth in women 45 years of age and older." Prenatal Diagnosis, Vol 25,No 4, pp 275-278.
Nordby KC, Andersen A et al (2005) "Indicators of mancozeb exposure in relation to thyroid cancer and neural tube defects in farmers' families." Scand J Work Environ Health, Vol 31, No 2, pp 89-96.
Pakkasjarvi N, Ritvanen A, Herva R, Peltonen L, Kestila M, Ignatius J (2005) "Lethal Congenital Contracture Syndrome (LCCS) and Other Lethal Arthrogryposes i Finland: An Epidemiological Study", American Journal of Medical Genetics, Vol 140, No 17, pp 1834-1839.
Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, Bazán de Casella C, Pintos de Pons S, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH (2005), "Research letter: Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina and Spain", Am J Med Genet, Vol 138A, pp 75-78.
Richmond S, Atkins J (2005), "A Population-Based Study of Prenatal Diagnosis of Congenital Malformations over 16 Years", BJOG: An International Journal of Obstetrics & Gynaecology, Vol 112, pp 1-9.
Rimessi P, Gualandi F, et al (2005) "Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation." American Journal of Medical Genetics, Vol 132, No 4, pp 391-394.
Rodriguez L, Starke H, et al (2005) "Three new cases with supernumerary ring chromosome 1." Clin Dysmorphol, Vol 14, No 4, pp 169-175.
Rodriguez L, Zollino M, et al (2005) "The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case." American Journal of Medical Genetics, Vol 136, No 2, pp 175-178.
Rouget F, Monfort C et al (2005) "Periconceptional folates and the prevention of orofacial clefts: role of dietary intakes in France." Rev Epidemiol Sante Publique, Vol 53, No 4, pp 351-360.
Rubini M, Brusati R et al (2005) "Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate." American Journal of Medical Genetics, Vol 136, No 4, pp 368-372.
Salvador J, Borrell A et al (2005) "Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona." Prenatal Diagnosis, Vol 25, No 11, pp 991-996.
Sanchis A, Cervero L et al (2005) "Genetic syndromes mimic congenital infections." Journal of Pediatrics, Vol 146, No 5, pp 701-705.
Satge D, Schorderet DF, Balmer A, Beck-Popovic, Addor MC, Beckmann JS, Munier FL (2005), "Association Down Syndrome-Retinoblastoma: A New Observation", Ophthalmic Genetics, Vol 26, pp 151.152.
Stoll, C and Martel-Petit, V (2005) "Chromosomal region 13q21q31 and heterochrony of development." Genet Couns, Vol 16, No 4, pp 371-376.
Sulko J, Czarny-Ratajczak M et al (2005) "Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita." American Journal of Medical Genetics, Vol 137, No 3, pp 292-297.
Tanner K, Sabrine N, Wren C (2005), "Cardiovascular Malformations in Preterm Infants", Paediatrics, Vol 116, pp 833-838.
Vollset SE, Gjessing H et al (2005) "Folate supplementation and twin pregnancies." Epidemiology, Vol 16, No 2, pp 201-205.
2004
Bermejo E, Cuevas L, Medioroz J, Martinez-Frias ML (2004), "Vigilancia Epidemiologica de las Anomalias Congenitas en Espana, en low Ultimos 24 Anos", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 58-81.
Bermejo E, medioroz J, Cuevas L, Lopez F, Rodriguez-Pinilla E, Martinez-Frias ML (2004), "Aspectos clinicos-Epidemiologicos de los Recien Nacidos con Anomalias congenitas Registrados en el ECEMC", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 25-43.
Bianchi F, Bianca S, Linzalone N, Madeddu A (2004), "Surveillance of Congenital Malformations in Italy: An Investigation in the Province of Siracusa", EP Anno, Vol 28, No 2, pp 87. [Article]
Boyd PA, Tondi F, Hicks NR, Chamberlain PF (2004), "Autopsy After Termination of Pregnancy for Fetal Anomaly: Retrospective Cohort Study", British Medical Journal, Vol 328, pp 137-140.
Canduela Martinez V, Mongil Ruiz I, de Diego Garcia EM, Fernandez Jimenez I (2004), "Cual as su Diagnostico: Recien Nacida con Masa Quistica Interlabial", An Pediatr, Vol 61, No 3, pp 273-274.
Carbonell Perez JM, Galan Gomez E, Saez Hurtado J, Rodriguez Martinez L, Cardesa Garcia JJ, Martinez-Frias ML (2004), "Duplicacion Parcial de Novo del Segmento Distal del Brazo Largo del Cromosoma 5 (q31-qter)", An Pediatr, Vol 60, No 1, pp 80-84.
Cordier S, Chevrier C, Robert-Gnansia E, Lorente C, Brula P & Hours M (2004) Risk of congenital anomalies in the vicinity of solid waste incinerators. Occup Environ Med, 61: 8-15
Dequino GV, Rodriguez-Pinilla E, Rato Barrio B, Mejias Pavon C, Fernandez Martin P, Martinez-Frias ML (2004), "Servico de Informacion Telefonica sobre Teratogenos Espanol (SITTE) y por el Servicio de Informacion Telefonica para la Embarazada (SITE): Resultado de ano 2003", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 84-90.
Fernandez P, Rodriguez-Pinilla E, Rato Barrio B, Dequino GV, Mejias Pavon C, Martinez-Frias ML (2004), "Intoxicacion Cronica por Monoxido de Carbono Durante el Embarazo: Presentacion de un Caso", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 54-46.
Frieling S (2004), "Schisis Preventie, Diagnostiek & Behandeling: EUROCAT Lezing", Tijdschrift voor Verloskundigen, Maart, pp 113-117.
Gajdos V, Bahuau M, Robert-Gnansia E, Francannet C, Cordier S and Bonaiti-Pellie C (2004), "Genetics of Nonsyndromic Cleft Lip With or Without Cleft Palate: Is there a Mendelian Sub-Entity?", Annales de Genetique, e-publication.
Galan-Gomez E, Carbonell-Perez JM, Cardesa-Garcia JJ, Val-Sanchez de Leon JM, Campo-Sampedro FM, Martinez-Frias ML, Frias JL (2004), "A diagnositoric conundrum: Two Siblings with features Overlapping the Kabuki and Malpuech Syndromes: A New MCA Syndrome?", American Journal of Medical Genetics, Vol 125A, pp 306-309.
Garne E (2004), "Congenital Heart Defects - Occurrence, Surgery and Prognosis in a Danish Country", Scand Cardiovasc J, Vol 38, pp 357-362.
Garne E, Andersen H-J (2004), "The Impact of Multiple Pregnancies and Malfromatios on Perinatal Mortality", Journal of Perinatal Medicine, Vol 32, No 3, pp 215-219.
Heuterman J, de Walle, H, Poortvliet M, Bouman K, Cornel M (2004), "Age at Postnatal Diagnosis of Down Syndrome in the Northern Netherlands for the Period 1981-2000", Community Genetics, Vol 7, pp 55-59.
Katalinic A, Roesch C, Ludwig M (2004), "Pregnancy Course and outcome After Intracytoplasmatic Sperm Injection: A Controlled Prospective Cohort Study", Fertility and Sterility, Vol 81, No 6, pp 1604-1616.
Khoshnood B, De Vigan C, Vodovar V, Goujard J, Goffinet F (2004), "Population-Based Evaluation of the Impact of Antenatal Screening for Down's Syndrome in France, 1981-2000", BJOG, Vol 111, No 5, pp 485-490.
Khoshnood B, Blondel B, De Vigan C, Breart G (2004), "Socioeconomic Barriers to Informed Decision-making Regarding Maternal Serum Screening for Down Syndrome: Results of the French National Perinatal Survey of 1998", Am J Public Health, Vol 94, No 3, pp 484-491.
Lopez-Grondone F, Rodriguez L, Mansilla E, Martinez-Fernandez ML, Martinez-Frias ML (2004), "Delecion 14q Proximal: Presentacion de dos Casos y Revision de la Literatura", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 18-24.
Martinez-Frias ML (2004), "Editorial: Biologia del Desarrollo y Genetica Molecular de los Syndromes Malformativos: Luces y Sombras de un Sistema Altamente Complejo, Bol ECEMC: Rev Dismor Epidemiol, V 3, pp V-VIII.
Martinez-Frias ML (2004), "Editorial Comment: Segmentation Anomalies of the Vertebras and Ribs: One Expression of the Primary Developmental Field", American Journal of Medical Genetics, Vol 128A, pp 127-131.
Martinez-Frias ML, Mermejo E, Lopez-Grondona F et al (2004), "Aspectos Diagnosticos, Etiologicos y Geneticos de las Ictiosis Congenitas al Nacimiento: Carachteristicas de los Casos Registrado en el ECEMC", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 2-13
Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla, Frias JL (2004), "Risk for Congenital Anomalies Associated with Different Sporadic and Daily Doses of Alcohol Consumption during Pregnancy: A Case-Control Study", Birth Defects Research (Part A), Vol 70, pp 194-200.
Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Scala I, Andria G, Botto L y el Grupo de Trabajo del ECEMC (2004), "Frecuencia de la Mutacion 677C-T del Gen de la Metilentetrahidrofolato Reductasa en Una Muestra de 652 Recien Nacidos de Toda Espana", Med Clin, Vol 122, No 10, pp 361-364.
Martinez-Frias ML, Prieto D, Prieto L, Mermejo E, Rodriguez-Pinilla E, Cuevas L (2004), "Secular Decreasing Trend of the Frequency of Hypospadias Among Newborn Male Infants in Spain", Birth Defects Res Part A Clin Mol Teratol, Vol 70, No 2, pp 75-81.
Martinez-Frias ML, Rodriguez-Pinilla E, Bermejo E y Grupo Periferico del ECEMC (2004), "Problemtica del Diagnostico de los Ninos Malformados Cuyas Madres son Diabeticas", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 46-53.
Martinez-Frias ML, Rodriguez L, Lopez-Frondona F, Bermejo E, Rodriguez-Pinilla E, Frias JL (2004), "Frequency of Neural Tube Defects and Down Syndrome in teh Same Sibship: Analysis of the Spanish Ongoing Case-Control Study" (Letter to the Editor), American Journal of Medical Genetics, Vol 126A, pp 430-431.
Mendioroz J, Bermejo E, Lopez-Frondona F et al (2004), "Sindromes Muy Poco Frecuentes", Bol ECEMC: Rev Dismor Epidemiol, Vol 3, pp 14-17.
Patel Y, Boyd PA, Chamberlain P, Lakhoo K (2004), "Follow up of Children with Isolated Fetal Echogenic Bowel with Particular Reference to Lowel-Related Symptons", Prenatal Diagnosis, Vol 24, pp 35-37.
Perez B, Ochoa SC, Marugan IV et al (2004), "Secuencia de Poland y Dextrocardia" (Carta al Director), An Pediatri, Vol 61, No 4, pp 350-351.
Roesch C (2004), "Jedes 4. ICSI-Kind Zwilling", AP Gynakologie 1, January - February.
Siero F, van Diem M, Voorrips R, Willemsen M (2004), "Periconceptional Smoking: An Exploratory Study of Determinants of Change in Smoking Behaviour Among Women in the Fertile Age Range", Health Education Research, Vol 19, No 4, pp 418-429.
Vanhecke S, Penders E, Sarre S, de Walle H, Meijer W & de Jong-van den Berg L (2004) Foliumzuur Rond de Conceptie: de Situatie in Belgie. Farmaceutisch Tidjschrift voor Belgie, 1, 3-7.
2003
Addor MC, Feldmeyer L & Hohlfeld J (2003) Epidémiologie des fentes labio-maxillo-palatines dans le canton de Vaud. Revue médicale de la Suisse romande, 123,501-505
Arroyo Carrera I, Pitarch V, García MJ, Barrio AR, Martínez-Frías ML (2003), "Unusual congenital abdominal wall defect and review", Am J Med Genet, Vol 119A, pp 211-213.
Bonnot O, Vollset SE, Godet PF, d'Amato T, Dalery J & Robert E (2003) Exposition in utero au lorazepam et atrésie anale: signal épidémiologique. L'Encéphale, XXIX: 553-559
Bosi G, Garani G, Scorrano M, Calzolari E and the IMER Working Party (2003) Temporal variability in birth prevalence of congenital heart defects as recorded by a general birth defects registry. J Pediatrics June, 142(6): 690-698 Erratum in: J Pediatr, Oct; 143(4): 531
Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G and the IMER Working Group (2003) Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). Eur J Epidemiol, 18(8), 773-780
Christensen JH, Hansen LK, Garne E (2003), "Congenital Hydrocephalus - Prevalence and Prognosis", Ugeskr Laeger, Vol 165, No 5, pp 466-469.
Cordier S, Lorente C, Robert-Gnansia E, Chevrier C, Brula P & Hours M (2003), "Risk of congenital anomalies in the vicinity of municipal solid waste incinerators", Birth Defects Research A, 67, 319 (Abstract)
Dastgiri S, Gilmour W, Stone D (2003), "Survival of Children Born with Congenital Anomalies", Arch Dis Child, Vol 88, pp 391-394.
Frías JP, Martínez-Frías ML, Frías PA, Frías JL (2003), "Obesity increases the risk of congenital heart defects in women with gestational diabetes mellitus", Diabetologia, Vol 46, pp A 66 (184).
Guillem P, Fabre B, Cans C, Robert-Gnansia E & Jouk PS (2003) Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère). Prenat Diagn,23, 877-883
Kock K, Vestergaard V, Hardt-Madsen M, Garne E (2003), "Declining Autopsy Rates in Stillbirths and Infant Deaths: Results from Funen County, Denmark 1986-96", J Matern Fetal Neonatal Med, Vol 13, No 6, pp 403-407.
Mammi I, Basile RT, Bellato S, Belli S, Benedicenti F, Boni S, Castellan C, Clementi M, Di Gianantonio E, Petrella M, Turolla L & Tenconi R (2003) Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North East Italy. American Journal of Medical Genetics Vol. 121A, 214-218
Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias, JL (2003), "Risk of Congenital Anomalies Associated with Different Sporadic and Daily Coses of Alcohol Consumption during Pregnancy: A Case Control Study", Clinical and Molecular Teratology, Birth Defects Research (Part A), Vol 70, pp 192-22.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E (2003), "Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (Letter to the Editor)", Am J Med Genet, Vol 116A, pp 101.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E, Prieto L (2003), "Response to Dr. Narchi’s comments on “Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome”. (Letter to the Editor)", Am J Med Genet, Vol 121A, pp 191-192.
Pramparo T, Gregato G, De Gregori M, Friso A, Clementi M, Ardenghi P, Rocchi M, Zuffardi O & Tenconi R (2003) Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. American Journal of Medical Genetics, Vol 123A, pp 79-83.
Rodríguez L, Martínez Guardia N, Herens C, Jamar M, Verloes A, López F, Santos Muñoz J, Martínez-Frías ML (2003), "Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review", Am J Med Genet, Vol 122A, pp 119-124.
2002
Bache A, Garne E (2002), "Congenital Heart Diseases in Funen County", Ugeskr Laeger, Vol 164, No 4, pp 69-72.
Centre de Estudos E Registo de Anomalias Congenitas (CERAC) (2002), "Relatorio de 1997 a 1999", Instituto Nacional de Saude Dr Ricardo Jorge Observatorio Nacional de Saude, ISBN 972-8643-12-8.
de Walle H, Cornel M & de Jong-van den Berg L (2002) Three years after the Dutch folic acid campaign: growing socio-economic differences. Preventative Medicine, 35, 65-69.
Garne E (2002), "Antiepileptic Drugs and Maflroamtions - Induced Abortions Must be Included", Ugeskr Laeger, Vol 164, pp 918.
Garne E, Rasmussen L, Husby S (2002), "Gastrointestinal Malformations in Funen County, Denmark - Epidemiology, Association Malformations, Surgery and Mortality", European Journal of Pediatric Surgeons, Vol 12, pp 101-106.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL (2002), "Reply to the research letter by Bohring-"OEIS Complex, VATER, and the ongoing difficulties in terminology and delineation". (Letter to the Editor)", Am J Med Genet, Vol 107, pp 77.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E, Prieto L (2002), "Epidemiological evidence that Maternal Diabetes does not appear to increase the risk for Down Syndrome", Am J Med Genet, Vol 112, pp 335-337.
Martínez-Frías ML, Rodríguez L, López F, Bermejo E, Rodríguez-Pinilla E (2002), "Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary. (Letter to the Editor)", Am J Med Genet, Vol 108, pp 254.
Postma M, Londeman J, Veenstra M, de Walle H & de Jong-van den Berg (2002) Cost-effectiveness of periconceptional supplementation of folic acid. Pharm World Sci, 24(1), 8-11
Rodríguez L, Cuadrado Pérez I, Herrera Montes J, Lorente Jarreño ML, López Grondona F, Martínez-Frías ML (2002), "Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele", Am J Med Genet, Vol 110, pp 73-77.
Rodríguez L, López F, Paisán L, Portugués De La Red M del M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML (2002), "Pure partial trisomy 7q: Two new patients and review", Am J Med Genet, Vol 113, pp 218-224.
Wang R, Martínez-Frías ML, Graham JM (2002), "Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach", J Pediatrics, Vol 141, pp 611-617.
2001
Boyd PA, Chamberlain PF (2001), "Risk of Adverse Birth Outcomes Near Landfill Sites: Local registers Provide More Accurate Information", British Medical Journal, Vol 323, pp 1366.
Martínez-Frías ML (2001), "Heterotaxia as an outcome of maternal diabetes: An epidemiological study", Am J Med Genet, Vol 99, pp 142-146.
Martínez-Frías ML (2001), "Editorial Comment: Approaches to the analysis of infants with multiple congenital anomalies", Am J Med Genet, Vol 101, pp 33-35.
Martínez-Frías ML, Bermejo E, Frías JL (2001), "The VACTERL association: Lessons from the Sonic hedgehog pathway. (Letter to the Editor)", Clin Genet, Vol 60, pp 397-398.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL (2001), "Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect", Am J Med Genet, Vol 99, pp 261-269.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L (2001), "Periconcepcional exposure to contraceptive pills and risk for Down syndrome", Journal of Perinatology, Vol 21, pp 288-292.
Martínez-Frías ML, García Mazario MJ, Feito Caldas C, Conejero Gallego MP, Bermejo E, Rodríguez-Pinilla E (2001), "High maternal fever during gestation and severe congenital limb disruptions", Am J Med Genet, Vol 98, pp 201-203.
Martínez-Frías ML, Rodríguez-Pinilla E (2001), "Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: No evidence of human teratogenicity", Teratology, Vol 63, pp 38-41.
Martínez-Frías ML, Rodríguez L, Bermejo E, López F, Rodríguez-Pinilla E (2001), "It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor. (Letter to the Editor)", Am J Med Genet, Vol 101, pp 80.
2000
Boyd PA, Crocker AJM, Jefferies M, Chamberlain PF (2000), "Screening for Down's Syndrome", British Medical Journal, Vol 321, pp 762.
Dastgiri S, Stone D, Le-Ha C, Gilmour W (2000), "Prevalence and Secular Trend of Congenital Anomalies in Glasgow, UK", Arch Dis Child, Vol 86, pp 257-263.
Dimitrov B, Simeonov E et al (2000), "Prevalence and Diagnostic Evaluation of Skeletal Dysplasias in Infancy", Current Epidemiological Evidence Versus Experimental Data on Reproductive and Developmental Toxicity of Pesticides, EUROWORKSHOP, Sofia, Bulgaria, pp 155-161.
Hazebroek-Kampschreur AAJM (2000), "World Alliance of Organizations for the Prevention of Birth Defects Conference Report", Amsterdam, The Netherlands, May 2000.
Irgens A, Kruger K, Skorve AH, Irgens, L (2000), "Birth defects and Paternal Occupational Exposure. Hypotheses Tested in a Record Linkage Based Dataset", Acta Obstetricia et Gynecologica, Vol 79, pp465-470.
Irgens L (2000), "The Medical Birth Registry of Norway. Epidemiological research and Surveillance Throughout 30 Years", Acta Obstetricia et Gynecologica, Vol 79, pp 435-439.
Martínez-Frías ML (2000): Response to ´what kind of controls to use in case control studies of malformed infants: Recall bias versus "teratogen nonspecificity" bias`. (Letter to the Editor). Teratology 62:372.
Martínez-Frías ML, Bermejo E, Frías JL (2000), "Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects", Am J Med Genet, Vol 90, pp 246-249.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L (2000), "Case-control study of maternal occupation as hairdresser during pregnancy and congenital defects", Environ Epidemiol Toxicol, Vol 2, pp 20-23.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E (2000), "Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: Comparative epidemiology", Am J Med Genet, Vol 92, pp 13-18.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E (2000), "Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations", Am J Med Genet, Vol 95, pp 169-173.
Martínez-Frías ML, Castilla EE, Bermejo E, Prieto L, Orioli IM (2000), "Isolated small intestinal atresias in Latin America and Spain: Epidemiological analysis", Am J Med Genet, Vol 93, pp 355-359.
Martínez-Frías ML, Villa A, Acero de Pablo R, Ayala A, Calvo MJ, Bermejo E, Rodríguez L (2000), "Limb deficiencies in infants with trisomy 13", Am J Med Genet, Vol 93, pp 339-341.
Prieto L, Martínez-Frías ML (2000), "Case-control studies using only malformed infants who were prenatally exposed to drugs. What do the results mean? (Letter to the Editor)", Teratology, Vol 62, pp 5-7.
Prieto L, Martínez-Frías ML (2000), "Response to “What kind of controls to use in case control studies of malformed infants: recall bias versus ‘teratogen nonspecificity’ bias”. (Letter to the Editor)", Teratology, Vol 62, pp 372.
Reefhuis J (2000), "The Use of Birth Defect registries for Etiological Research", Thesis, Rijksuniversiteit Groningen, ISBN 90-367-1241-6.
Reefhuis J, de Walle HEK, de Jong-van den Berg LTW, Cornel MC and the EuroMAP-Group (2000), "Additional Information from Parental Questionnaires and Pharmacy Records for registration of Birth Defects" European Journal of Epidemiology, Vol 16, pp 329-336.
Rijnders L, Boonstra A, Groothoff J, Cornel M, Eisma W (2000), "Lower Limb Deficient Children in the Netherlands: Epidemiological Aspects", Prosthetics and Orthotics International, Vol 24, pp 13-18.
Rodríguez-Pinilla E, Arroyo I, Fondevilla J, García MJ, Martínez-Frías ML (2000), "Prenatal exposure to Valproic Acid during pregnancy and limb deficiencies: A case-control study", Am J Med Genet, Vol 90, pp 376-381.
Rodríguez L, Sanchis A, Villa A, Cánovas A, Peris S, Estívalis M, Pons S, Martínez-Frías ML (2000), "Ring chromosome 7 and sacral agenesis", Am J Med Genet, Vol 94, pp 52-58.
Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, Goujard J, Stoll C, Cocchi G, Merlob P, Mutchinick O, Cornel MC, Castilla EE, Martínez-Frías ML, Zampino G, Erickson JD, Mastroiacovo P (2000), "Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems", Am J Med Genet, Vol 93, pp 110-116.
Sijmons R, Boonstra A, Reefhuis J, Hordijk-Hos J, de Walle H, Oosterwijk J, Cornel M (2000), "Accuracy of Family History of Cancer: Clinical genetic Implications", European Journal of Human Genetics, Vol 8, pp 181-186.
Simeonov E and Dimitrov B (2000), "Registration of Congenital Anomalies/CA/In Genetic/Environmental Interactions Studies", Current Epidemiological Evidence Versus Experimental Data on Reproductive and Developmental Toxicity of Presticides, EUROWORKSHOP, Sofia, Bulgaria, pp 125-131.
van der Pal-de Bruin KM, de Walle HEK, Jeeninga W, de Rover C, Cornel MC, de Jong-van den Berg LTW, Schouten J, Brad R, Buitendijk SE (2000), "The Dutch 'Folic Acid Campaign' - Have the Goals Been Achieved?", Paediatric and Perinatal Epidemiology, Vol 14, pp 111-117.
Villa A, Galán Gómez E, Rodríguez L, Hernández Rastrollo R, Martínez Tallo ME, Martínez-Frías ML (2000), "Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)", Am J Med Genet, Vol 90, pp 369-375.
Vollset SE, Land B (2000), "Knowledge and Attitudes of Folate, and Use of Dietary Supplements Among Women of Reproductive Age in Norway 1998", Acta Obstetricia et Gynecologica, Vol 79, pp 513-519.
White SM, Chamberlain PF, Hitchcock R, Sullivan PB, Boyd PB (2000), "Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome; The Difficulties with Antenatal Diagnosis: Case Reports and review of the Literature", Prenatal Diagnosis, Vol 20, pp 697-700.
1999
Garne E, Nielsen G, Hansen OK, Emmertsen K (1999), "Tetrology of Fallot: A Population Based Study of Epidemiology, Association Malformations and Survival in Western Denmark 1984-92", Scand Cardiovasc, Vol J33, pp 45-48.
Huddy CLJ, Boyd PA, Wilkinson AR, Chamberlain PF (1999), "Congenital Diaphragmatic Hernia: Prenatal Diagnosis, Outcome and Continuing Morbidity in Survivors", British Journal of Obstetrics & Gynecology, Vol 106, pp 1192-1196.
Martínez-Frías ML, Bermejo E, Frías JL (1999), "Analysis of deformations in 26,810 consecutive infants with congenital defect", Am J Med Genet, Vol 84, pp 365-368.
Martínez-Frías Ml, Bermejo E, Rodríguez-Pinilla E, Frías JL (1999), "Maternal and Fetal Factors related to abnormal amniotic fluid", Journal Perinatology, Vol 19, No 7, pp 514-520.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L (1999), "Exploratory case-control study on maternal occupation as cook during pregnancy and congenital defects", Environ Epidemiol Toxicol, Vol 1, pp 148-152.
Martínez-Frías ML, Czeizel AE, Rodríguez-Pinilla E, Bermejo E (1999), "Smoking during pregnancy and Poland Sequence: Results of a population-based registry and a case-control registry", Teratology, Vol 59, pp 35-38.
Martínez-Frías ML, Frías JL (1999), "VACTERL as primary, polytopic developmental field defects", Am J Med Genet, Vol 83, pp 13-16.
Martínez-Frías ML, Rodríguez-Pinilla E (1999), "First-trimester exposure to topical Tretinoin: Its safety is not warranted (Letter to the Editor)", Teratology, Vol 60, pp 5.
Martínez-Frías ML, Rodríguez-Pinilla E (1999), "Problems of using data from Teratology Information Services (TIS) to identify putative teratogens (Letter to the Editor)", Teratology, Vol 60, pp 54-55.
Prieto L, Martínez-Frías ML (1999), "Case-control studies using only malformed infants: Are we interpreting the results correctly? (Letter to the Editor)", Teratology, Vol 60, pp 1-2.
Reefhuis J, Zandwijken G, de Walle H, Cornel M (1999), "Birth defect and Risk Factor Surveillance in the Northern and Southwestern Netherlands", Community Genetics, Vol 2, pp 97-108.
1998
Bermejo E, Martínez-Frías ML (1998), "Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain", Am J Med Genet, Vol 75, pp 497-504.
Bermejo E, Martínez-Frías ML (1998), "Clinical-epidemiological aspects of Down syndrome in Spain", Ital J Intellect Impair / Riv Ital Disturbo Intellet, Vol 11, pp 23-30.
Boyd PA, Batthacharya A, Gould S, Manning N, Chamberlain P (1998), "Outcome of Prenatally Diagnosed Anterior Abdominal Wall Defects" Archives of Disease in Childhood Fetal and Neonatal, Vol 78, pp F209-F213 .
Boyd PA, Chamberlain P, Hicks N (1998), "6-year Experience of Prenatal Diagnosis in an Unselected Population in Oxford,UK" Lancet, Vol 352, pp 1577-1581.
Gaffney G, Manning N, Gould S, Boyd PA, Chamberlain P (1998), "An Ultrasonographic Assessment of Skeletal Dysplasia - A Report of the Diagnostic and Prognostic Accuracy in 35 Cases", Prenatal Diagnosis, Vol 18, pp 357-362.
Lorda-Sánchez I, Prieto L, Rodríguez-Pinilla E, Martínez-Frías ML (1998), "Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome", Ann Hum Genet, Vol 62, pp 235-239.
Martínez-Frías ML, Bermejo E, Prieto L (1998), "Maternal occupation in agriculture during pregnancy and congenital anomalies: A case-control study", Int J Risk Saf Med, Vol 11, pp 217-224.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL (1998), "Congenital anomalies in the offspring of mothers with a bicornuate uterus", Pediatrics (Electronic), Vol 101, (Pt1), pp E10(1998).URL:http://www.pediatrics.org/cgi/content/full/101/4/e10.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L (1998), "Case-control study on occupational exposure to anesthetic gases during pregnancy", Int J Risk Saf Med, Vol 11, pp 225-231.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L, Frías JL (1998), "Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers", Am J Med Genet, Vol 78, pp 140-145.
Martínez-Frías ML, Frías JL, Opitz JM (1998), "Errors of morphogenesis and developmental field theory", Am J Med Genet, Vol 76, pp 291-296.
Martínez-Frías ML, García A, Bermejo E (1998), "Cyclopia and sirenomelia in a liveborn infant", J of Med Genet, Vol 35, pp 263-264.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E, Blanco M (1998), "Prenatal exposure to Penicillamine and oral clefts (Letter to the Editor)", Am J Med Genet, Vol 76, pp 274-275.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E, Prieto L (1998), "Prenatal exposure to sex hormones: A case-control study", Teratology, Vol 57, pp 8-12.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E, Prieto L (1998), "Reply to Dr. Li: "Prenatal Exposure to Sex Hormones: A Case-Control Study" (Letter to the Editor)", Teratology, Vol 58, pp 29.
Martínez-Frías ML, Sanchis A, Aparicio P, Blanco M, García MJ, Gómez-Ullate J, Félix V, Huertas H, Jiménez N, López JA, Marco JJ, Martín M, Palacios G, Romero D, Vázquez MS (1998), "Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births", Teratology, Vol 57, pp 13-16.
Michie C, Chambers J et al (1998), "Folate Deficiences, Neural Tube Defects and Cardiac Disease in UK Indians and Pakistanis", The Lancet, Vol 351, pp 1105.
Rodríguez-Pinilla E, Martínez-Frías ML (1998), "Corticosteroids during pregnancy and oral clefts: A case-control study", Teratology, Vol 58, pp 2-5.
Urioste M, Rosa A (1998), "Anencephaly and faciocranioschisis: Evidence of complete failure of closure 3 of the neural tube in humans", Am J Med Genet, Vol 75, pp 4-6.
1997
Baric I, Barisic I, Begovic D (1997), "Genetic Services in Croatia", European Journal of Human Genetics, Vol 5, Suppl 2, pp 46-50.
Berghold A (1997), "Evaluation von Registerdaten unter besonderer Berücksichtigung von Capture-Recapture Methoden (dargestellt am Steirischen Fehlbildungsregister)", Unpublished PhD thesis, Technical University Graz.
Berghold A, Wernecke K-D (1997), "Capture-Recapture Methods in the Registration of Congenital Anomalies", In: C.E. Minder and H. Friedl, Hrsg. Good Statistical Practice. Schriftenreihe der Österreichischen Statistischen Gesellschaft, Band 5, pp 100-105. ISBN3-7007-0046-6.
Caro-Patón T, Carvajal A, Martín de Diego I, Martín-Arias LH, Alvarez Requejo A, Rodríguez-Pinilla E (1997), "Is metronidazole teratogenic? A meta-analysis", Br J Clin Pharmacol, Vol 44, pp 179-182.
Cornel M, Erickson D (1997), "Comparison of National Policies on Periconceptional Use of Folic Acid to Prevent Spina Bifida and Anencephaly (SBA)", Teratology, Vol 55, pp 134-137.
de Vigan C, Goujard J, Vodovar V, Uzan S (1997), "Management of the Fetus with a Correctable Malformation in Paris Maternity Units: Evolution 1985-1994", Fetal Diagnosis and Therapy, Vol 12, pp 216-220.
Feingold M, Hall BD, Lacassie Y, Martínez-Frías ML (1997), "Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay", Am J Med Genet, Vol 69, pp 245-249.
Häusler M, Fasching G, Zotter H, Fechter M, Mayr J, Berghold A (1997), "The influence of the mode of delivery on neonates with gastroschisis: with data of the Styrian Malformation Register", Gyn Geb Rundschau, Vol 37, pp 25-29.
Ligutic I, Barisic I, Kapitanovic H, Beer Z, Modrusan-Mozetic Z, Capar M, Zuzek A, Stanojevic M, Svel I, Hirsl-Hecej (1997) "Eleven Year EUROCAT Registration of Congenital Anomalies in Croatia", Lijec Vjesn, Vol 119, pp 47-53.
Lorda-Sánchez I, Urioste M, Villa A, Carrascosa MC, Vázquez MS, Martínez A, Martínez-Frías ML (1997), "Proximal partial 5p trisomy resulting from a maternal (19;5) insertion", Am J Med Genet, Vol 68, pp 476-480.
Lorda-Sánchez I, Villa A, Urioste M, Bernal E, Jaso E, García A, Martínez-Frías ML (1997), "Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl", Am J Med Genet, Vol 68, pp 481-484.
Martínez-Frías ML (1997), "Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency", Am J Med Genet, Vol 73, pp 170-175.
Martínez-Frías ML (1997), "Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): Are they two different entities?", Am J Med Genet, Vol 73, pp 176-179.
Martínez-Frías ML, Arroyo I, Bermejo E, Espinosa J, García MJ (1997), "Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: Two additional cases that expand the phenotype to a more generalized effect on blastogenesis", Am J Med Genet, Vol 73, pp 205-209.
Martínez-Frías ML, Bermejo E (1997), "Major congenital malformations in Down Syndrome (Letter to the Editor)", Am J Med Genet, Vol 73, pp 91.
Martínez-Frías ML, Bermejo E, Aparicio P, Blanco M, Burón E, Cuevas L, Espinosa MJ, Fondevilla J, Gallo M, Hernández F, Marco JJ, Martínez S, Morales MC, Mújica I, Paisán L, Valdivia L (1997), "Amelia: Analysis of its epidemiological and clinical characteristics", Am J Med Genet, Vol 73, pp 189-193.
Martínez-Frías ML, Frías JL (1997), "Are blastogenetic anomalies sporadic?", Am J Med Genet, Vol 68, pp 381-385.
Martínez-Frías ML, Frías JL (1997), "Primary developmental field III: Clinical and epidemiological study of blastogenetic anomalies and their relationship to different MCA patterns", Am J Med Genet, Vol 70, pp 11-15.
Martínez-Frías ML, Frías JL, Bermejo E, Rodríguez-Pinilla E, Urioste M (1997), "Epidemiological analysis of the Schisis association in the Spanish Registry of Congenital Malformations", Am J Med Genet, Vol 70, pp 16-23.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E (1997), "Correlation between drug exposure and major malformations (Letter to the Editor)", Am J Med Genet, Vol 70, pp 99.
Martínez-Frías ML, Rodríguez-Pinilla E, Prieto L (1997), "Prenatal exposure to salicylates and gastroschisis: A case-control study", Teratology, Vol 56, pp 241-243.
Modrusan-Mozetic Z, Ligutic I, Barisic I, Cekadal S, Mahulja-Stamenkovic V, Samardzija R, Girotto V, Tomasic-Martinis E (1997), "Possible Influence of the Environment on the Congenital Anomalies", Medicin, Vol 33, pp 51-54.
Urioste M, Rodríguez JI, Bofarull JM, Torán N, Ferrer C, Villa A (1997), "Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia", Am J Med Genet, Vol 68, pp 342-346.
1996
Castilla EE, Lugarinho da Fonseca R, Da Graça Dutra M, Bermejo E, Cuevas L, Martínez-Frías ML (1996), "Epidemiological analysis of rare polydactylies", Am J Med Genet, Vol 65, pp 295-303.
Cornel M, Erickson D et al (1996), "Population-Based Birth-Defect and Risk-Factor Surveillance: Data from the Northern Netherlands", International Journal of Risk & Safety in Medicine, Vol 8, pp 197-209.
EUROCAT Northern Netherlands(1996), "Nieuwsbrief", EUROCAT Northern Netherlands, Vol 33, September.
Häusler M, Berghold A, Zierler H, Kainer F (1996), "Schwangerschaftsabbruch nach pränataler Diagnostik - Daten des Steirischen Fehlbildungsregisters (1985 - 1992)", Wiener Klinische Wochenschrift, Vol 108, pp 169-174.
Häusler M, Berghold A, Zierler H, Behmel A, Pertl B (1996), "Triple-Test-Scenario for Styria - with data of the Styrian Malformation Register", Gynäkol Geburtsh Rundsch, Vol 36, pp 169-177.
Kallen B, Mastroiacovo P, Robert E (1996), "Major Congenital Malformations in Down Syndrome", American Journal of Medical Genetics, Vol 65, pp 160-166.
Martínez-Frías ML (1996), "Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: A primary polytopic developmental field defect", Am J Med Genet, Vol 62, pp 68-70.
Martínez-Frías ML (1996), "Multiple vertebral segmentation defects and rib anomalies (Letter to the Editor)", Am J Med Genet, Vol 66, pp 91.
Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M (1996), "A new case of fibrochondrogenesis from Spain", J Med Genet, Vol 33, pp 429-431.
Martínez-Frías ML, Prieto L, Urioste M, Bermejo E (1996), "Clinical/Epidemiological analysis of congenital anomalies associated with diaphragmatic hernia", Am J Med Genet, Vol 62, pp 71-76.
Martínez-Frías ML, Urioste M, Bermejo E, Sanchis A, Rodríguez-Pinilla E (1996), "Epidemiological analysis of multi-site closure failure of neural tube in humans", Am J Med Genet, Vol 66, pp 64-68.
Prieto L, Martínez-Frías ML (1996), "Epidemiological analysis of the association between two congenital anomalies in the same child: A method for adjusting nonspecific clustering", Am J Med Genet, Vol 62, pp 61-67.
Schaefer C, Amoura-Elefant E, Vial T, Ornoy A, Garbis H, Robert E, Rodríguez-Pinilla E, Pexieder T, Prapas N, Merlob P (1996), "Pregnancy outcome after prenatal quinolone exposure. Evaluation of a case registry of the European Network of Teratology Information Services (ENTIS)", Europ J Obstet Gynecol and Reprod Biol, Vol 69, pp 83-89.
Urioste M, Lorda-Sánchez I, Blanco M, Burón E, Aparicio P, Martínez-Frías ML (1996), "Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene?", Hum Genet, Vol 97, pp 214-217.
1995
Castilla EE, Martínez-Frías ML (1995), "Congenital Healed Cleft Lip", Am J Med Genet, Vol 58, pp 106-112.
Firth H, Boyd PA, Chamberlain PF, MacKenzie IZ, Morriss-Kay G (1995), "Analysis of Limb Reduction Defects in Babies Exposed to Chorionic Villus Sampling", Lancet, Vol 343, pp 1069-71.
Fletcher J, Hicks NR, Kay JDS, Boyd PA (1995), "The Use of Decision Analysis to Compare Policies for Antenatal Screening for Down's Syndrome", British Medical Journal, Vol 311, pp 351-356.
Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL (1995), "Kabuki Make-up (Niikawa-Kuroki) Syndrome in Five Spanish Children", Am J Med Genet, Vol 59, pp 276-282.
Martínez-Frías ML (1995), "Primary midline developmental field. I. Clinical and epidemiological characteristics", Am J Med Genet, Vol 56, pp 374-381.
Martínez-Frías ML, Martín M, Pardo M, Fernández de las Heras F, Frías JL (1995), "Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly and borderline intelligence: A New Autosomal Dominant Disorder", Am J Med Genet, Vol 55, pp 213-216.
Martínez-Frías ML, Urioste M, Bermejo E, Rodríguez-Pinilla E, Félix V, Paisán L, Martínez S, Egüés J, Gómez F, Aparicio P, Cucalón F, Arroyo A, Meipp C, Vázquez S, Rodríguez JI, Rosa A, García J, Jiménez N, Moro C (1995), "Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)", Am J Med Genet, Vol 56, pp 382-388.
Rodríguez-Pinilla E, Martínez-Frías ML (1995), "Video display terminals: Risk of trisomy 18? (Letter to the Editor)", Clin Genet, Vol 47, pp 335-336.
Siles P, Boyd PA, Manning N, Tsang T, Chamberlain P (1995), "Omphalocoele and Pericardial Effusion - Possible Sonographic Markers for the Pentalogy of Cantrell or its Variants", Obstetrics and Gynecology, Vol 87, pp 840-842.
Urioste M, Arroyo I, Villa A, Lorda-Sánchez I, Barrio R, López-Cuesta MJ, Rueda J (1995), "Distal deletion of chromosome 13 in a child with the "Opitz" GBBB syndrome", Am J Med Genet, Vol 59, pp 114-121.
Villa A, Urioste M, Bofarull JM, Martínez-Frías ML (1995), "De novo interstitial deletion q16.2q21 on chromosome 6", Am J Med Genet, Vol 55, pp 379-383.
Villa A, Urioste M, Carrascosa MC, Vázquez S, Martínez A, Martínez-Frías ML (1995), "Pericentric inversions of chromosome 4: Report of a new family and review of the literature", Clin Genet, Vol 48, pp 255-260.
1994
Martínez-Frías ML (1994), "Developmental field defects and associations: Epidemiological evidence of their relationship", Am J Med Genet, Vol 49, pp 45-51.
Martínez-Frías ML (1994), "Gastroschisis: Is the prevalence increasing? (Letter to the Editor)", Am J Med Genet, Vol 49, pp 128.
Martínez-Frías ML (1994), "Another way to interpret the description of the Monster of Ravenna of the sixteenth century (Letter to the Editor)", Am J Med Genet, Vol 49, pp 362.
Martínez-Frías ML (1994), "Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies", Am J Med Genet, Vol 51, pp 108-113.
Martínez-Frías ML (1994), "Spina bifida and hypospadias: A non random association or an X-linked recessive condition?", Am J Med Genet, Vol 52, pp 5-8.
Martínez-Frías ML, Alcaraz M, Espejo P, Gómez MA, García de León R, González Moro L (1994), "Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): Description of a new case", J Med Genet, Vol 31, pp 410-412.
Martínez-Frías ML, Bermejo E, García A, Galán E, Prieto L (1994), "Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis", Am J Med Genet, Vol 53, pp 46-51.
Martínez-Frías ML, Bermejo E, Paisán L, Martín M, Egüés J, López JA, Martínez S, Orbea C, Cucalón F, Gairi JM, Urioste M, De La Cruz MA (1994), "Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish Registry", Am J Med Genet, Vol 51, pp 203-212.
Martínez-Frías ML, Bermejo E, Sánchez Otero T, Urioste M, Morena V, Cruz E (1994), "New Syndrome: Sclerocornea, Hypertelorism, Syndactyly, and Ambiguous Genitalia", Am J Med Genet, Vol 49, pp 195-197.
Martínez-Frías ML, Gomar JL (1994), "New case of axial mesodermal dysplasia sequence: Epidemiologic evidence of a single entity", Am J Med Genet, Vol 49, pp 74-76.
Martínez-Frías ML, Martín M, Pardo M, Torres M, Cohen MM Jr (1994), "Holoprosencephaly and hypognathia with two proboscides: Report of a case and review of unusual proboscides", J Craniofac Genet Dev Biol, Vol 14, pp 231-234.
Martínez-Frías ML, Urioste M (1994), "Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence", Am J Med Genet, Vol 49, pp 36-44.
Urioste M, Martínez-Frías ML, Aparicio P (1994), "Ectrodactyly in Trisomy 13 syndrome (Letter to the Editor)", Am J Med Genet, Vol 53, pp 390-392.
Urioste M, Martínez-Frías ML, Bermejo E, Jiménez N, Romero D, Nieto C, Villa A (1994), "Short rib-polydactyly syndrome and pericentric inversion of chromosome 4", Am J Med Genet, Vol 49, pp 94-97.
Urioste M, Martínez-Frías ML, Bermejo E, Villa A, Jiménez N, Romero D, Nieto C (1994), "Chromosome 4p16 and osteochondrodysplasias", Nature Genetics, Vol 6, pp 334.
Urioste M, Paisán L, Martínez-Frías ML (1994), "DK-Phocomelia syndrome in a child with a long follow-up", Am J Med Genet, Vol 52, pp 269-271.
Urioste M, Visedo G, Sanchis A, Sentís C, Villa A, Ludeña P, Hortigüela JL, Martínez-Frías ML, Fernández-Piqueras J (1994), "Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in Cat Eye Syndrome", Am J Med Genet, Vol 49, pp 77-82.
1993
Cereijo AI, Martínez-Frías ML (1993), "Consanguineous marriages among parents of patients with Down syndrome (Letter to the Editor)", Clin Genet, Vol 44, pp 221-222.
Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martínez-Frías ML (1993), "Reply to Drs. Czeizel et al. (Letter to the Editor)", Am J Med Genet, Vol 45, pp 393.
EUROCAT Northern Netherlands (1993), "Tables 1981-1991: Time Trends and Regional Distribution", EUROCAT Northern Netherlands.
EUROCAT Northern Netherlands (1993), "Nieuwsbrief" EUROCAT Northern Netherlands, August.
Martínez-Frías ML (1993), "Interviewer bias and maternal bias (Letter to the Editor)", Teratology, Vol 47, pp 531-532.
Martínez-Frías ML como coautora (1993), "Recomendations and protocols for prenatal diagnosis", European Study Group on Prenatal Diagnosis. JM Carrera y GC di Renzo eds. Barcelona. Publicado también en Prog Diagn Pren, Vol 5, pp 3-66.
Martínez-Frías ML, Bermejo E, Urioste M, Egüés J, López Soler JA (1993), "Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: A new type of SRPS or a more severe expression of a known SRPS entity?", Am J Med Genet, Vol 47, pp 782-787.
Martínez-Frías ML, Bermejo E, Urioste M, Huertas H, Arroyo I (1993), "Lethal short rib-polydactyly syndromes: Further evidence for their overlapping in a continuous spectrum", J Med Genet, Vol 30, pp 937-941.
Martínez-Frías ML, Cereijo A, Rodríguez-Pinilla E (1993), "Smoking in pregnancy (Letter to the Editor)", The Lancet, Vol 341, pp 1350-1351.
Martínez Santana S, Pérez Alvarez F, Frías JL, Martínez-Frías ML (1993), "Hypertrichosis, atrophic skin, ectropion and macrostomia (Barber-Say Syndrome): Report of a new case", Am J Med Genet, Vol 47, pp 20-23.
Shackley P, McGuire A, Boyd PA, Dennie J, Flitchett M, Kay J, Roche M, Wood P (1993), "Economic Appraisal of Alternative Prenatal Screening Programmes for Down's Syndrome", Journal of Public Health Medicine, Vol 15, No 2, pp 175-184.
Urioste M (1993), "Chromosome cultures from human cartilage", Am J Med Genet, Vol 46, pp 123-125.
Urioste M, Rodríguez JI, Barcia JM, Martín M, Escribá R, Pardo M, Camino J, Martínez-Frías ML (1993), "New syndrome: Persistence of Müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies", Am J Med Genet, Vol 47, pp 494-503.
1992
Arroyo I, García MJ, Cimadevilla CE, Carretero V, Bermejo E, Martínez-Frías ML (1992), "Bilateral anophthalmia, esophageal atresia and right cryptorchidism: A new entity?", Am J Med Genet, Vol 43, pp 686-687.
Cereijo AI, Martínez-Frías ML (1992), "Prevalence of other birth defects among relatives of oral cleft probands (Letter to the Editor)", J Med Genet, Vol 29, pp 516-520.
Cohen Jr MM, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martínez-Frías ML (1992), "Birth prevalence study of the Apert Syndrome", Am J Med Genet, Vol 42, pp 655-659.
Cornel M, Spreen J et al (1992), "Some Epidemiological Data on Oral Clefts in the Northern Netherlands, 1981-1988", Journal of Cranio-Maxillo Facial Surgery, Vol 20, pp 147-152.
Cornel M, Van Essen A et al (1992), "Comparison of Couples Referred and not Referred for Genetic Counselling in a Genetic Clinic After the Birth of a Child with a Congenital Anomaly: A Study in a Population in the Northeastern Netherlands", American Journal of Medical Genetics, Vol 42, pp 387-392.
Häusler M, Berghold A, Schöll W, Hofer P, Schaffer M (1992), "The influence of the post-Chernobyl fallout on birth defects and abortion rates in Austria", Am J Obstet Gynecol, Vol 167, pp 1025-1031.
Häusler M, Berghold A., Schaffer M., Schoell W (1992), "Assessment of the influence of Chernobyl on birth defects and abortion rates in Austria", Am J Obstet Gynecol, Vol 166, pp 349 (abstract).
Institute for Mother and Child Health, Zagreb (1992), "Archives for Mother and Child Health" Journal of Institute for Mother and Child Health - Zagreb, Vol 36, pp 79-196.
Martínez-Frías ML, Bermejo E (1992), "Prevalence of congenital anomaly syndromes in a Spanish gypsy population", J Med Genet, Vol 29, pp 483-486.
Martínez-Frías ML, Bermejo E, Cereijo A (1992), "Preaxial polydactyly of feet in infants of diabetic mothers: Epidemiological test of a clinical hypothesis", Am J Med Genet, Vol 42, pp 643-646.
Martínez-Frías ML, Cereijo A, Rodríguez-Pinilla E, Urioste M (1992), "Methimazole in animal feed and congenital aplasia cutis (Letter to the Editor)", The Lancet, Vol 339, pp 742-743.
Martínez-Frías ML, Cucalón F, Urioste M (1992), "New case of limb body-wall complex associated with sirenomelia sequence", Am J Med Genet, Vol 44, pp 583-585.
Martínez-Frías ML, Frías JL, Galán E, Domingo R, Paisán L, Blanco M (1992), "New Syndrome?: Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency", Am J Med Genet, Vol 44, pp 352-355.
Martínez-Frías ML, Rodríguez-Pinilla E (1992), "Reply to Drs. Karasik and Marion (Letter to the Editor)", Am J Med Genet, Vol 42, pp 854.
Martínez-Frías ML, Rodríguez-Pinilla E (1992), "Folic acid supplementation and neural tube defects (Letter to the Editor)", Lancet, Vol 340, pp 620.
Martínez-Frías ML, Urioste M, Cereijo A, Rodríguez Pinilla E (1992), "Anorectal and esophageal anomalies in Down Syndrome (Letter to the Editor)", Am J Med Genet, Vol 44, pp 848-849.
Martínez-Frías ML, Urioste M, Martín M, Frías JL (1992), "Pseudotrisomy 13 Syndrome (Letter to the Editor)", Am J Med Genet, Vol 43, pp 633-635.
Ramos Arroyo MA, Rodríguez Pinilla E, Cordero JF (1992), "Maternal diabetes: The risk for specific birth defects", Eur J Epidemiol, Vol 8, pp 503-508.
Rodríguez JI, Palacios J, Urioste M (1992), "Response to Dr. Hecht (Letter to the Editor)", Am J Med Genet, Vol 42, pp 401.
Rodríguez JI, Palacios J, Urioste M (1992), "Acrofacial dysostosis syndromes (Letter to the Editor)", Am J Med Genet, Vol 42, pp 851.
Rodríguez JI, Palacios J, Urioste M, Rodríguez-Peralto JL (1992), "Tetra-phocomelia with multiple malformations: X-linked Amelia, or Roberts syndrome, or DK-phocomelia syndrome? (Letter to the Editor)", Am J Med Genet, Vol 42, pp 630-631.
Rodríguez JI, Rodríguez-Peralto JL, Muro M, Urioste M, Palacios J (1992), "Anencephaly and limb deficiencies", Am J Med Genet, Vol 44, pp 66-71.
Stoll C, Alembik Y et al (1992), "Evaluation of Prenatal Diagnosis by a Registry of Congenital Anomalies", Prenatal Diagnosis, Vol 12, pp 263-270.
1991
Firth HV, Boyd PA, Chamberlain P, MacKenzie IZ, Lindenbaum RH, Huson SM (1991), "Severe Limb Abnormalities After Chorion Villus Sampling at 56-66 days", The Lancet, Vol 337, pp 762-763.
Ipsiroglu OS, Häusler M, Hofmann HMH, Haberlik A, Stöckler S (1991), "Perinatological management of malformations requiring emergency surgery - Evaluation study No. II/C of the Styrian malformation data - bank", Arch Gynecol Obstet, Vol 250, pp 589-91.
Martínez-Frías ML como coautora (1991), "Congenital malformations worldwide", A Report from the International Clearinghouse for Birth Defects Monitoring Systems. Ed. Elsevier Science Publishers BV. Amsterdam.
Martínez-Frías ML (1991), "Valproic acid and spina bifida (Letter to the Editor)", The Lancet, Vol 338, pp 196-197.
Martínez-Frías ML, Bermejo E, Cereijo A, Sánchez M, López M, Gonzalo C (1991), "Epidemiological aspects of mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes", Am J Med Genet, Vol 38, pp 626-629.
Martínez-Frías ML, Cereijo A, Bermejo E, López M, Sánchez M, Gonzalo C (1991), "Epidemiological aspects of mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes", Am J Med Genet, Vol 38, pp 622-625.
Martínez-Frías ML, Frías JL, Rodríguez-Pinilla E, Urioste M, Bermejo E, Cereijo A, Gayá F (1991), "Value of clinical analysis in epidemiological research: The Spanish Registry experience", Am J Med Genet, Vol 41, pp 192-195.
Martínez-Frías ML, Frías JL, Vázquez I, Fernández J (1991), "Bartsocas-Papas syndrome: Three familial cases from Spain", Am J Med Genet, Vol 39, pp 34-37.
Martínez-Frías ML, Rodríguez-Pinilla E (1991), "Tracheoesophageal and anal atresia in prenatal children exposed to a high dose of alcohol (Letter to the Editor)", Am J Med Genet, Vol 40, pp 128.
Urioste M, Arroyo A, Martínez-Frías ML (1991), "Campomelia, polycystic dysplasia, and lymphocele in two sibs", Am J Med Genet, Vol 41, pp 475-477.
Urioste M, Martínez-Frías ML (1991), "Anorectal anomalies and Down Syndrome (Letter to the Editor)", Am J Med Genet, Vol 39, pp 493.
1990
Bortolussi A, De Jong-van Den Berg L et al (1990), "Drug Utilization Data of Ovulation Stimulating Drugs in the Netherlands", Pharmaceutisch Weekblad, Vol 12, pp F4.
Cornel M, De Jong-van Den Berg L et al (1990), "Further Evidence of an Association Between ovulation Induction and Neural Tube Defects", Pharmaceutisch Weekblad, Vol 12, pp A7.
Dolk H and Nevin N (1990), "Down's Syndrome and fertility in Older Women", The Lancet, Vol 336, pp 511.
Häusler M, Hofmann HMH, Hofer P, Schaffer M, Ipsiroglu OS (1990), "Registrierung angeborener Fehlbildungen in Oesterreich" In: Dudenhausen JW, Saling E, Hrsg. 14. Deutscher Kongreb für Perinatale Medizin. G. Thieme Verlag Stuttgart, New York 1990, Band 13, pp 215-217. ISBN 3-13-746701-2.
López Pajares I, Delicado A, Díaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martín M (1990), "Tetraploidy in a liveborn infant", J Med Genet, Vol 27, pp 782-783.
Martínez-Frías ML (1990), "Clinical Manifestation of Prenatal Exposure to Valproic Acid Using Case Reports and Epidemiologic Information", Am J Med Genet, Vol 37, pp 277-282.
Martínez-Frías ML, Frías JL, Salvador J (1990), "Clinical/Epidemiological Analisis of Malformations", Am J Med Genet, Vol 35, pp 121-125.
Martínez-Frías ML, Salvador J (1990), "Epidemiological aspects of prenatal exposure to high doses of vitamin A in Spain", Eur J Epidemiol, Vol 6, pp 118-123.
Pinel I, Urioste M, Martínez-Frías ML, Gomar JL (1990), "Endoreduplications in a family with a reciprocal translocation (9q;16p) (Letter to the Editor)", Clin Genet, Vol 38, pp 399-400.
Rodríguez JI, Palacios J, Urioste M (1990), "New acrofacial dysostosis syndrome in 3 sibs", Am J Med Genet, Vol 35, pp 484-489.
Urioste M, Pinel I, Gomar JL, Skinner C, Martínez-Frías ML (1990), "Diploid/Tetraploid mosaicism in a stillborn infant with Prune Belly Anomaly", Ann Génét, Vol 33, pp 49-51.
1989
Cornel M, De Jong-van Den Berg L et al (1989), "Further Evidence of an Association between Ovulation Induction and Neural Tube Defects", Teratology, Vol 40, pp 278.
Häusler M, Ring E, Ipsiroglu O, Hofmann HMH, Schaffer M, Hofer P Der Wert (1989), "Des pränatalen Ultraschall-Screenings am Beispiel von Fehlbildungen des Urogenitalsystems. Daten aus dem Steirischen Fehlbildungsregister 1985 bis 1987", Wiener Klinische Wochenschrift, Vol 10, pp 346-350.
Häusler M, Ipsiroglu OS, Rolett H, Schaffer M, Hofer P, Hofmann HM, Zierler H, Oberbauer R, Schimpl G, Drobnitsch W, Wirnsberger G, Stöckler S (1989), "Malformations and abortions of a three-year period (1985-87) and a proposal of a new register model", Eur J Epidemiol, Vol 5, pp 261.
Martínez-Frías ML (1989), "Association of Holoprosencephaly and Down Syndrome (Letter to the Editor)", Am J Med Genet, Vol 32, pp 435.
Martínez-Frías ML, Prieto L, Herranz I, Rodríguez-Pinilla E, Salvador J (1989), "Prenatal exposure to valproic acid and spina bifida. Some methodological aspects in case-control studies", Eur J Epidemiol, Vol 5, pp 252.
Martínez-Frías ML, Rodríguez-Pinilla E, Salvador J (1989), "Valproate and spina bifida", The Lancet, Vol 1, pp 611-612.
Martínez-Frías ML, Salvador J, Rodríguez-Pinilla E (1989), "Reply to Dr. Rybicki (Letter to the Editor)", Am J Med Genet, Vol 34, pp 299.
1988
Martínez-Frías ML, Herranz I, Salvador J, Prieto L, Ramos MA, Rodríguez-Pinilla E, Cordero JF (1988), "Prevalence of dominant mutations in Spain: Effect of changes in maternal age distribution", Am J Med Genet, Vol 31, pp 845-852.
Martínez-Frías ML, Ramos MA, Salvador J (1988), "Thanatophoric dysplasia: An autosomal dominant condition?", Am J Med Genet, Vol 31, pp 815-820.
Martínez-Frías ML, Salvador J (1988), "Megadose vitamin A and teratogenicity", The Lancet, Vol 1, pp 236.
Mori MA, Gómez-Sabrido F, Díaz de Bustamante A, Pinel I, Martínez-Frías ML (1988), "De novo 10q23 interstitial deletion", Am J Med Genet, Vol 25, pp 209-210.
Pinel I, Díaz de Bustamante A, Urioste M, Félix V, Martínez-Frías ML (1988), "An unusual variant of chromosome 16. Two new cases", Hum Genet, Vol 80, pp 194.
Urioste M, Valcárcel E, Gómez MA, Pinel I, García de León R, Díaz de Bustamante A, Tebar R, Martínez-Frías ML (1988), "Holoprosencephaly and Trisomy 21 in a child born to a nondiabetic mother", Am J Med Genet, Vol 30, pp 925-928.
1987
Mori MA, Gomar JL, Díaz de Bustamante A, Ananías A, Pinel I, Martínez-Frías ML (1987), "Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation", Am J Med Genet, Vol 26, pp 203-206.
Mori MA, Rodríguez L, Pinel I, Casas JM, Díaz de Bustamante A, Martínez-Frías ML (1987), "Partial monosomy 15q due to de novo t(15;22)(q15;p11)", Ann Genet, Vol 30, pp 246-248.
1986
Bosi G, Scorrano M et al (1986), "Progetto EUROCAT Per la Patologia Cardiovascolare Malformativa", Acta Paediatrica Latina, Vol 39, No 4, pp 317-328.
Fullana A, García-Frías E, Martínez-Frías ML, Razquin S, Quero J (1986), "Caudal deficiency and asplenia anomalies in sibs", Am J Med Genet Suppl, Vol 2, pp 23-29. En Developmental field concept (pp. 233-239).
Källén B, Bertollini E, Castilla E, Czeizel A, Knudsen LB, Martínez-Frías ML, Mastroiacovo P, Mutchinick O (1986), "A joint international study on the epidemiology of hypospadias", Act Pediatr Scand, Suppl 324, pp 1-52.
Martínez-Frías ML, Parralo JA, Salvador J, Frías J (1986), "Sex ratios in neural tube defects", The Lancet, Vol 2, pp 871.
1985
Hamilton F, Richardson P et al (1985), "Evaluation of the Use of Multiple Sources of Information for Registration of Congenital Anomalies in Glasgow", Registration of Congenital Anomalies in EUROCAT Centres, 1979-1983, Louvain-la-Neuve, Cabay.
Mori MA, Huertas H, Pinel I, Giralt P, Martínez-Frías ML (1985), "Trisomy 13 in the child of two carriers of a 13/15 translocation", Am J Med Genet, Vol 20, pp 17-20.
Pexieder T, Baumann H et al (1985), "Prospective Recording of Events During Pregnancy and Early Childhood Using a Pregnancy Pass", Results of a Pilot Study in Zurich. Registration of Congenital Anomalies in EUROCAT Centres, 1979-1983. Louvain-la-Neuve, Cabay.
1984
Martínez-Frías ML, Salvador J, Prieto L, Zaplana J (1984), "Epidemiological study of gastroschisis and omphalocele in Spain", Teratology, Vol 29, pp 377-382.
1983
1982
Martínez-Frías ML, Salvador J, Prieto L (1982), "Spanish toxic oil and congenital malformations", The Lancet, Vol 2, pp 1349.
1981
Lortie-Monette F, Kucera J, Weatherall JAC, Knudsen LN, Guibaud P, Czeizel A, Klingberg MA, Mastroiacovo P, Ashizawa M, Mutchinick O, Foster F, Nevin NC, Bjerkedal T, Castilla E, Martínez-Frías ML, Kallen B, Oakley GP, Stickle G, Hay S (1981), "A communication from the International Clearinghouse for Birth Defects Monitoring Systems", Internat J Epidemiol, Vol 10, No 3, pp 245-246.
1980
1979