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149 results

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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.
Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund 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 H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Wilcken B, et al. Among authors: bianca s. J Med Genet. 2003 Aug;40(8):619-25. doi: 10.1136/jmg.40.8.619. J Med Genet. 2003. PMID: 12920077 Free PMC article. No abstract available.
Sex and congenital malformations: an international perspective.
Lisi A, Botto LD, Rittler M, Castilla E, Bianca S, Bianchi F, Botting B, De Walle H, Erickson JD, Gatt M, De Vigan C, Irgens L, Johnson W, Lancaster P, Merlob P, Mutchinick OM, Ritvanen A, Robert E, Scarano G, Stoll C, Mastroiacovo P. Lisi A, et al. Among authors: bianca s. Am J Med Genet A. 2005 Apr 1;134A(1):49-57. doi: 10.1002/ajmg.a.30514. Am J Med Genet A. 2005. PMID: 15704121
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. Bermejo-Sánchez E, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002800 Free PMC article. Review.
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research.
Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, Csáky-Szunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P. Leoncini E, et al. Among authors: bianca s. Am J Med Genet A. 2010 Jul;152A(7):1670-80. doi: 10.1002/ajmg.a.33493. Am J Med Genet A. 2010. PMID: 20578135 Free article.
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. Bermejo-Sánchez E, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002956 Free PMC article. Review.
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.
Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, López-Camelo JS, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Orioli IM, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):358-73. doi: 10.1002/ajmg.c.30324. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002878 Free PMC article. Review.
Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. Feldkamp ML, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43. doi: 10.1002/ajmg.c.30317. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002951 Review.
Anorectal malformations and Down's syndrome.
Bianca S, Ettore G. Bianca S, et al. Paediatr Perinat Epidemiol. 2000 Oct;14(4):372. doi: 10.1046/j.1365-3016.2000.00282.x. Paediatr Perinat Epidemiol. 2000. PMID: 11101025 No abstract available.
149 results