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Short ribpolydactyly 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?
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Martínez-Frías ML, Bermejo E, Urioste M, Egüés J, López Soler JA (1993) Short ribpolydactyly 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 47:782-787
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Am J Med Genet
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López Soler, J.A.5
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43
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0027422076
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Lethal short rib-polydactyly syndromes: Further evidence for their overlapping in a continuous spectrum
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Martínez-Frías ML, Bermejo E, Urioste M, Huertas H, Arroyo I (1993) Lethal short ribpolydactyly syndromes: Further evidence for their overlapping in a continuous spectrum. J Med Genet 30:937-941 (Pubitemid 23330043)
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Journal of Medical Genetics
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44
-
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0028284729
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Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): Description of a new case
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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 31:410-412 (Pubitemid 24157258)
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(1994)
Journal of Medical Genetics
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Gonzalez Moro, L.6
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45
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0028013551
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New syndrome Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia
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Martínez-Frías ML, Bermejo E, Sánchez Otero T, Urioste M, Morena V, Cruz E (1994) New syndrome. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am JMed Genet 49:195-197
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Am JMed Genet
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46
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0028909440
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Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: A new autosomal dominant disorder
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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 55:213-216
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Am J Med Genet
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Frías, J.L.5
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47
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0030187758
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Síndrome de Adams-Oliver en nuestro medio: Aspectos epidemiológicos
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Martínez-Frías ML, Arroyo Carrera I, Jiménez Muñoz-Delgado N, Nieto Conde C, Rodríguez-Pinilla E, Urioste Azcorra M, Omeñaca Teres F, García Alix A (1996) Síndrome de Adams-Oliver en nuestro medio: Aspectos epidemiológicos. An Esp Pediatr 45:57-61
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An Esp Pediatr
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Martínez-Frías, M.L.1
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Rodríguez-Pinilla, E.5
Urioste Azcorra, M.6
Omeñaca Teres, F.7
García Alix, A.8
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48
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0029872294
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A new case of fibrochondrogenesis from Spain
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Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M (1996) A new case of fibrochondrogenesis from Spain. J Med Genet 33:429-431 (Pubitemid 26147880)
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(1996)
Journal of Medical Genetics
, vol.33
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Urioste, M.5
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49
-
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0030187871
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Sindrome de Hay-Wells, frecuencia en Espana y revision de la literatura
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Martínez-Frías ML, Martín Bermejo M, Ayala Garcés A, Pardo Romero M, Bermejo Sánchez E, Urioste Azcorra M (1996) Síndrome de Hay-Wells: Frecuencia en España y revisión de la literatura. An Esp Pediatr 45:101-104 (Pubitemid 26279942)
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(1996)
Anales Espanoles de Pediatria
, vol.45
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Martinez-Frias, M.L.1
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Ayala Garces, A.3
Pardo Romero, M.4
Bermejo Sanchez, E.5
Urioste Azcorra, M.6
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50
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0031445211
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Servicio de información telefónica sobre teratógenos español (sitte): resultados de los seis primeros años de funcionamiento
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Martínez-FríasML, Rodríguez-Pinilla E, Pavón MT,Mejías C (1997) Servicio de Información Telefónica sobre Teratógenos Español (SITTE): Resultados de los seis primeros años de funcionamiento. Prog Obst Gin 40:603-610
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Prog Obst Gin
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51
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2642697832
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Prenatal exposure to salicylates and gastroschisis: A case-control study
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DOI 10.1002/(SICI)1096-9926(199710)56:4<241::AID-TERA2>3.0.CO;2-1
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Martínez-Frías ML, Rodríguez-Pinilla E, Prieto L (1997) Prenatal exposure to salicylates and gastroschisis: A case-control study. Teratology 56:241-243 (Pubitemid 28017634)
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(1997)
Teratology
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52
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0031880399
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Displacia metatropica: Presentacion de un caso, consideraciones etiologicas y prevalencia en nuestro medio
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Martínez-Frías ML, Bermejo E, Blanco M, Antelo Cortizas J, Gorlin RJ (1998) Displasia metatrópica: Presentación de un caso, consideraciones etiológicas y prevalencia en nuestro medio. An Esp Pediatr 49:174-176 (Pubitemid 28385098)
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(1998)
Anales Espanoles de Pediatria
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Martinez-Frias, M.L.1
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Gorlin, R.J.5
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53
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0032089129
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Sindrome de Fraser: Frecuencia en nuestro medio y aspectos clinico- epidemiologicos de una serie consecutiva de casos
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Martínez-Frías ML, Bermejo Sánchez E, Félix V, Calvo Celada R, Ayala Garcés A, Hernández Ramón F (1998) Síndrome de Fraser: Frecuencia en nuestro medio y aspectos clínico-epidemiológicos de una serie consecutiva de casos. An Esp Pediatr 48:634-638 (Pubitemid 28307262)
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(1998)
Anales Espanoles de Pediatria
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Martinez-Frias, M.L.1
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Hernandez Ramon, F.6
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54
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7144259090
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Sindrome de Brachmann de Lange en nuestro medio: Caracteristicas clinicas y epidemiologicas
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Martínez-Frías ML, Bermejo E, Félix V, Jiménez N, Gómez-Ullate J, López JA, Aparicio P, Ayala A, Gairi JM, Galán E, Suárez ME, Peñas A, de Tapia JM, Nieto C, de la Serna E (1998) Síndrome de Brachmann de Lange en nuestro medio: Características clínicas y epidemiológicas. An Esp Pediatr 48:293-298 (Pubitemid 28236967)
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(1998)
Anales Espanoles de Pediatria
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Martinez-Frias, M.L.1
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Aparicio, P.7
Ayala, A.8
Gairi, J.M.9
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Suarez, M.E.11
Penas, A.12
De Tapia, J.M.13
Nieto, C.14
De La Serna, E.15
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55
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0032240771
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Estudio epidemiologico del sindrome de trombocitopenia con aplasia de radio (TAR) en Espana
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Martínez-Frías ML, Bermejo Sánchez E, García García A, Pérez Fernández JL, Cucalón Manzanos F, Calvo Aguilar MJ, Ripalda Crespo MJ (1998) Estudio epidemiológico del síndrome de trombocitopenia con aplasia de radio (TAR) en España. An Esp Pediatr 49:619-623 (Pubitemid 29074939)
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Anales Espanoles de Pediatria
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56
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0032061390
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Sindromes de Jarcho-Levin y Casamassima: Diagnostico diferencial y frecuencia en Espana
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Martínez-Frías ML, Bermejo Sánchez E, Martínez Santana S, Nieto Conde C, Egüés Jimeno J, Pérez Fernández JL, Foguet Vidal A (1998) Síndromes de Jarcho-Levin y Casamassima: Diagnóstico diferencial y frecuencias en España. An Esp Pediatr 48:510-514 (Pubitemid 28308756)
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(1998)
Anales Espanoles de Pediatria
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Martinez-Frias, M.L.1
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Egues Jimeno, J.5
Perez Fernandez, J.L.6
Foguel Vidal, A.7
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58
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0032452273
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Case-control study on occupational exposure to anesthetic gases during pregnancy
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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 11:225-231 (Pubitemid 29244619)
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(1998)
International Journal of Risk and Safety in Medicine
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59
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0032581208
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Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers
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DOI 10.1002/(SICI)1096-8628(19980630)78:2<140::AID-AJMG8>3.0.CO;2-S
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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 78:140-145 (Pubitemid 28298471)
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(1998)
American Journal of Medical Genetics
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60
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Prenatal exposure to penicillamine and oral clefts: Case report
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DOI 10.1002/(SICI)1096-8628(19980319)76:3<274::AID-AJMG13>3.0.CO;2- E
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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 76:274-275 (Pubitemid 28108816)
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American Journal of Medical Genetics
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61
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Prenatal exposure to sex hormones: A case-control study
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DOI 10.1002/(SICI)1096-9926(199801)57:1<8::AID-TERA2>3.0.CO;2-#
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Martínez-FríasML, Rodríguez-Pinilla E, Bermejo E, Prieto L (1998) Prenatal exposure to sex hormones: A case-control study. Teratology 57:8-12 (Pubitemid 28121901)
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Teratology
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62
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Sindrome de Townes-Brocks en Espana: Aspectos epidemiologicos en una serie consecutiva de casos
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Martínez-Frías ML, Bermejo Sánchez E, Arroyo Carrera I, Pérez Fernández JL, Pardo Romero M, Burón Martínez E, Hernández Ramón F (1999) Síndrome de Townes-Brocks en España: Aspectos epidemiológicos en una serie consecutiva de casos. An Esp Pediatr 50:57-60 (Pubitemid 29146472)
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63
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Maternal and fetal factors related to abnormal amniotic fluid
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Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL (1999) Maternal and fetal factors related to abnormal amniotic fluid. J Perinatol 19(7):514-520
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J Perinatol
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64
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Exploratory case-control study on maternal occupation as cook during pregnancy and congenital defects
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Martínez-FríasML, 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 1:148-152 (Pubitemid 30123449)
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Environmental Epidemiology and Toxicology
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65
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Smoking during pregnancy and Poland sequence: Results of a population-based registry and a case-control registry
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DOI 10.1002/(SICI)1096-9926(199901)59:1<35::AID-TERA8>3.0.CO;2-E
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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 59:35-38 (Pubitemid 29078096)
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Teratology
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66
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Case-control study of maternal occupation as hairdresser during pregnancy and congenital defects
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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 2:20-23 (Pubitemid 30321412)
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Environmental Epidemiology and Toxicology
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67
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Periconceptional exposure to contraceptive pills and risk for down syndrome
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DOI 10.1038/sj.jp.7210538
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Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L (2001) Periconcepcional exposure to contraceptive pills and risk for Down syndrome. J Perinatol 21:288-292 (Pubitemid 32798901)
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Journal of Perinatology
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Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome
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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 112:335-337
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Am J Med Genet
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Risk for Congenital Anomalies Associated with Different Sporadic and Daily Doses of Alcohol Consumption during Pregnancy: A Case-Control Study
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Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Frías JL (2004) Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: A case-control study. Birth Defects Res A Clin Mol Teratol 70:194-200 (Pubitemid 38581385)
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Birth Defects Research Part A - Clinical and Molecular Teratology
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American Journal of Medical Genetics
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Martínez-Frías ML, Frías JP, Bermejo E, Rodríguez-Pinilla E, Prieto L, Frías JL (2005) Pregestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes. Diabet Med 22:775-781 (Pubitemid 40805901)
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ECEMC Working Group
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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 66AG 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 A 140A:987-997
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Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E (2007) Síndrome de Dyggve-Melchior-Clausen: Presentación de un caso con una mutación de posible origen español. Med Clin (Barc) 128(4):137-140 (Pubitemid 46382338)
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Medicina Clinica
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Martínez-Frías ML, Bermejo E, Mendioroz J, Cuevas L (2008): Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos. Bol ECEMC Rev Dismor Epidemiol V,7:28-47. http://bvs.isciii.es/mono/pdf/CIAC-07.pdf. Cited 21 Sept 2009
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Does single umbilical artery (SUA) predict any type of congenital defect? Clinicalepidemiological analysis of a large consecutive series of malformed infants
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Martínez-FríasML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Grupo de Trabajo del ECEMC (2008) Does single umbilical artery (SUA) predict any type of congenital defect? Clinicalepidemiological analysis of a large consecutive series of malformed infants. Am J Med Genet A 146(1):15-25
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