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Gastroschisis and associated defects: an international study.
Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, Kucik J, Siffel C, Halliday J, Gatt M, Annerèn G, Bianchi F, Canessa MA, Danderfer R, de Walle H, Harris J, Li Z, Lowry RB, McDonell R, Merlob P, Metneki J, Mutchinick O, Robert-Gnansia E, Scarano G, Sipek A, Pötzsch S, Szabova E, Yevtushok L. Mastroiacovo P, et al. Am J Med Genet A. 2007 Apr 1;143A(7):660-71. doi: 10.1002/ajmg.a.31607. Am J Med Genet A. 2007. PMID: 17357116
Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?
Martínez-Frías ML; Grupo de trabajo del ECEMC. Martínez-Frías ML, et al. Am J Med Genet A. 2008 Jan 1;146A(1):26-34. doi: 10.1002/ajmg.a.32050. Am J Med Genet A. 2008. PMID: 17994564
Prevention, diagnosis and services.
Bermejo E, Martínez-Frías ML. Bermejo E, et al. Adv Exp Med Biol. 2010;686:55-75. doi: 10.1007/978-90-481-9485-8_4. Adv Exp Med Biol. 2010. PMID: 20824439 Review.
Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants.
Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto D; ECEMC Working Group. Martínez-Frías ML, et al. Am J Med Genet A. 2008 Jan 1;146A(1):15-25. doi: 10.1002/ajmg.a.31911. Am J Med Genet A. 2008. PMID: 17999408
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
Mendioroz J, Fernández-Toral J, Suárez E, López-Grondona F, Kjaer KW, Bermejo E, Martínez-Frías ML. Mendioroz J, et al. Am J Med Genet A. 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728. Am J Med Genet A. 2005. PMID: 15887301
Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes.
Martínez-Frías ML, Frías JP, Bermejo E, Rodríguez-Pinilla E, Prieto L, Frías JL. Martínez-Frías ML, et al. Diabet Med. 2005 Jun;22(6):775-81. doi: 10.1111/j.1464-5491.2005.01492.x. Diabet Med. 2005. PMID: 15910631
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>;2-9. Am J Med Genet. 2000. PMID: 10869112 Clinical Trial.
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