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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. 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.
Major congenital malformations in Down syndrome.
Martínez-Frías ML, Bermejo E. Martínez-Frías ML, et al. Am J Med Genet. 1997 Nov 28;73(1):91-2. doi: 10.1002/(sici)1096-8628(19971128)73:1<91::aid-ajmg18>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9375930 No abstract available.
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.
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. Rosano A, et al. Am J Med Genet. 2000 Jul 17;93(2):110-6. doi: 10.1002/1096-8628(20000717)93:2<110::aid-ajmg6>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10869112
Cyclopia and sirenomelia in a liveborn infant.
Martínez-Frías ML, García A, Bermejo E. Martínez-Frías ML, et al. J Med Genet. 1998 Mar;35(3):263-4. doi: 10.1136/jmg.35.3.263-a. J Med Genet. 1998. PMID: 9541120 Free PMC article. No abstract available.
Birth prevalence study of the Apert syndrome.
Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martínez-Frías ML. Cohen MM Jr, et al. Am J Med Genet. 1992 Mar 1;42(5):655-9. doi: 10.1002/ajmg.1320420505. Am J Med Genet. 1992. PMID: 1303629
Correlation between drug exposure and major malformations.
Martínez-Frías ML, Rodríguez-Pinilla E, Bermejo E. Martínez-Frías ML, et al. Am J Med Genet. 1997 May 2;70(1):99-101. doi: 10.1002/(sici)1096-8628(19970502)70:1<99::aid-ajmg18>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9129749 No abstract available.
285 results