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Genetics and Syndromes

Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H and EUROCAT Working Group (2008), "Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe", American Journal of Medical Genetics Part A, Vol 146A, pp 51-59.  [Full Text]

Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodríguez L, Neri G (2007), "Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16", Hum Genet, Vol 122, pp 423-430.  [Full Text]

Lisi A, Botto L, Rittler M, Castilla E, Bianchi F, Botting B, de Walle H, Erickson JD, Gatt M, de Vigan C, Irgens L, Johnson W, Lancaster P, Merlob P, Mutchinisk OM, Ritvanen A, Robert E, Scarano G, Stoll C, Mastroiacovo P (2005), "Sex and Congenital Malformations: An International Perspective", American Journal of Medical Genetics, Vol 134A, pp 49-57. 

Baena N, De Vigan C et al (2004), "Turner Syndrome: Evaluation of Prenatal Diagnosis in 19 European Registries", American Journal of Medical Genetics, Vol 129A, No 1, pp 16-20.

Calzolari E, Bianchi F, Rubini M, Ritvanen A, Neville A and a EUROCAT Working Group (2004), "Epidemiology of Cleft Palate in Europe: Implications for Genetic Research Strategy", The Cleft Palate-Craniofacial Journal, Vol 41, No 3, pp 244-249.

Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, de Vigan C, Martinez-Frias ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essan AJ, Cobben JM, Cornel MC (2004), "Renal Defects and Limb Deficiencies in 197 Infants: Is it Possible to Define the 'Acrorenal Syndrome'?", American Journal of Medical Genetics, Vol 129A, pp 149-155.

Källén K, Robert E, Castilla EE, Mastroiacovo P & Källén B (2003)  Relation between oculo-auriculo-vertebral (OAV) dysplasie and three other non-random associations of malformations (VATER, CHARGE and OEIS). Am J Med Genet Part A, 17 Dec, e-publication

Stoll C, Clementi C et al (2003), "Prenatal Diagnosis of Dysmorphic Syndromes by Routine Fetal Ultrasound Examination Across Europe", Ultrasound in Obstetrics and Gyncecology, Vol 21, pp 543-551.

Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Redlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle HEK, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M. J., Erickson D, Vollset SE, Mastroiacovo P, Andria G & Botto L (2003), "Geographical and Ethnic Variation of the 677C>T Allele of 5,10 Methylenetetrahydrofolate Reductase (MTHFR): Findings from over 7000 Newborns from 16 Areas Worldwide", Journal of Medical Genetics, Vol 40, pp 619-625.