All Stories

  1. Congenital Anomalies: Cluster Detection and Investigation

    Article • January 2017, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ, Manuel Posada

  2. Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns

    Article • Neuroepidemiology, January 2016, Karger Publishers

    EVA BERMEJO-SANCHEZ, Manuel Posada

  3. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

    Article • The American Journal of Human Genetics, July 2015, Elsevier

    EVA BERMEJO-SANCHEZ

  4. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    EVA BERMEJO-SANCHEZ

  5. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    EVA BERMEJO-SANCHEZ

  6. European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

    Article • Public Health Genomics, January 2014, Karger Publishers

    EVA BERMEJO-SANCHEZ

  7. Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

    Article • American Journal of Medical Genetics Part A, December 2013, Wiley

    EVA BERMEJO-SANCHEZ

  8. Haploinsufficiency ofBMP4gene may be the underlying cause of Frías syndrome

    Article • American Journal of Medical Genetics Part A, December 2013, Wiley

    EVA BERMEJO-SANCHEZ

  9. Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, December 2013, Wiley

    EVA BERMEJO-SANCHEZ

  10. Defectos congénitos en recién nacidos y fetos procedentes de interrupción del embarazo tras diagnóstico prenatal en el período 1982-2009

    Article • Medicina Clínica, August 2013, Elsevier

    EVA BERMEJO-SANCHEZ

  11. A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

    Article • American Journal of Medical Genetics Part A, July 2013, Wiley

    EVA BERMEJO-SANCHEZ

  12. Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, October 2011, Wiley

    EVA BERMEJO-SANCHEZ

  13. 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

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, October 2011, Wiley

    EVA BERMEJO-SANCHEZ

  14. Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, October 2011, Wiley

    EVA BERMEJO-SANCHEZ

  15. Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, October 2011, Wiley

    EVA BERMEJO-SANCHEZ

  16. 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

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, October 2011, Wiley

    EVA BERMEJO-SANCHEZ

  17. Pautas de prevención de defectos congénitos con especial referencia a los niveles primario y secundario. Guías de actuación preventiva desde la atención primaria

    Article • Medicina de Familia SEMERGEN, October 2011, Elsevier

    EVA BERMEJO-SANCHEZ

  18. Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

    Article • The American Journal of Human Genetics, August 2011, Elsevier

    EVA BERMEJO-SANCHEZ

  19. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

    Article • American Journal of Medical Genetics Part A, December 2010, Wiley

    EVA BERMEJO-SANCHEZ

  20. Ejemplos clínicos de alteraciones crípticas del ADN, y guías para sospechar que un niño pueda tener alguna alteración críptica o molecular

    Article • Medicina de Familia SEMERGEN, December 2010, Elsevier

    EVA BERMEJO-SANCHEZ

  21. Prevention, Diagnosis and Services

    Article • January 2010, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  22. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

    Article • American Journal of Medical Genetics Part A, December 2009, Wiley

    EVA BERMEJO-SANCHEZ

  23. Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain

    Article • Journal of Pediatric Surgery, April 2009, Elsevier

    EVA BERMEJO-SANCHEZ

  24. Epidemiology of acephalus/acardius monozygotic twins: New insights into an epigenetic causal hypothesis

    Article • American Journal of Medical Genetics Part A, March 2009, Wiley

    EVA BERMEJO-SANCHEZ

  25. Preferential Associations Between Oral Clefts and Other Major Congenital Anomalies

    Article • The Cleft Palate-Craniofacial Journal, September 2008, American Cleft Palate Association

    EVA BERMEJO-SANCHEZ

  26. Pilot Study of Socioeconomic Class, Nutrition and Birth Defects in Spain

    Article • Maternal and Child Health Journal, February 2007, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  27. Evolución secular y por comunidades autónomas de la frecuencia de síndrome de Down al nacimiento en hijos de madres jóvenes

    Article • Progresos de Obstetricia y Ginecología, February 2007, Sociedad Espanola de Nutricion Parenteral y Enteral (SENPE)

    EVA BERMEJO-SANCHEZ, Manuel Posada

  28. Gastroschisis and associated defects: An international study

    Article • American Journal of Medical Genetics Part A, January 2007, Wiley

    EVA BERMEJO-SANCHEZ

  29. Does single umbilical artery (SUA) predict any type of congenital defect? Clinical–epidemiological analysis of a large consecutive series of malformed infants

    Article • American Journal of Medical Genetics Part A, January 2007, Wiley

    EVA BERMEJO-SANCHEZ

  30. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: a descriptive study

    Article • Pharmacoepidemiology and Drug Safety, June 2006, Wiley

    EVA BERMEJO-SANCHEZ

  31. The incidence of gastroschisis: Is also increasing in Spain, particularly among babies of young mothers

    Article • BMJ, February 2006, BMJ

    EVA BERMEJO-SANCHEZ

  32. Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G 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?

    Article • American Journal of Medical Genetics Part A, January 2006, Wiley

    EVA BERMEJO-SANCHEZ

  33. Respuesta de los autores

    Article • Medicina Clínica, October 2005, Elsevier

    EVA BERMEJO-SANCHEZ

  34. Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes

    Article • Diabetic Medicine, June 2005, Wiley

    EVA BERMEJO-SANCHEZ

  35. New findings in craniofacial dyssynostosis

    Article • American Journal of Medical Genetics Part A, February 2005, Wiley

    EVA BERMEJO-SANCHEZ

  36. Evolución secular y por autonomías de la frecuencia de tratamientos de fertilidad, partos múltiples y cesáreas en España

    Article • Medicina Clínica, February 2005, Elsevier

    EVA BERMEJO-SANCHEZ

  37. Consumo de tabaco durante el embarazo en España: análisis por años, comunidades autónomas y características maternas

    Article • Medicina Clínica, January 2005, Elsevier

    EVA BERMEJO-SANCHEZ

  38. Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    EVA BERMEJO-SANCHEZ

  39. Craniofacial dyssynostosis: Description of the first four Spanish cases and review

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    EVA BERMEJO-SANCHEZ

  40. Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion ofHOXD13

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    EVA BERMEJO-SANCHEZ

  41. MTHFR677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women

    Article • American Journal of Medical Genetics Part A, December 2004, Wiley

    EVA BERMEJO-SANCHEZ

  42. Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: A case-control study

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, April 2004, Wiley

    EVA BERMEJO-SANCHEZ

  43. Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, February 2004, Wiley

    EVA BERMEJO-SANCHEZ

  44. Frequency of neural tube defects and down syndrome in the same sibship: Analysis of the Spanish ongoing case-control study

    Article • American Journal of Medical Genetics Part A, November 2003, Wiley

    EVA BERMEJO-SANCHEZ

  45. Evolución temporal y por comunidades autónomas del consumo de diferentes cantidades de alcohol durante el embarazo

    Article • Medicina Clínica, April 2003, Elsevier

    EVA BERMEJO-SANCHEZ

  46. Análisis de la situación en España sobre el consumo de ácido fólico/folinato cálcico para la prevención de defectos congénitos

    Article • Medicina Clínica, January 2003, Elsevier

    EVA BERMEJO-SANCHEZ

  47. Evolución temporal y por comunidades autónomas del consumo de diferentes cantidades de alcohol durante el embarazo

    Article • Medicina Clínica, January 2003, Elsevier

    EVA BERMEJO-SANCHEZ

  48. Diagnóstico prenatal temprano del síndrome de regresión caudal asociado con la diabetes mellitus

    Article • Progresos de Obstetricia y Ginecología, January 2003, Sociedad Espanola de Nutricion Parenteral y Enteral (SENPE)

    EVA BERMEJO-SANCHEZ

  49. ‘The VACTERL association: lessons from the Sonic hedgehog pathway’

    Article • Clinical Genetics, January 2002, Wiley

    EVA BERMEJO-SANCHEZ

  50. Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome

    Article • American Journal of Medical Genetics, January 2002, Wiley

    EVA BERMEJO-SANCHEZ

  51. Reply to the research letter by Bohring-“OEIS complex, VATER, and the ongoing difficulties in terminology and delineation”

    Article • American Journal of Medical Genetics, December 2001, Wiley

    EVA BERMEJO-SANCHEZ

  52. Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

    Article • Journal of Perinatology, August 2001, Nature

    EVA BERMEJO-SANCHEZ

  53. Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect

    Article • American Journal of Medical Genetics, January 2001, Wiley

    EVA BERMEJO-SANCHEZ

  54. High maternal fever during gestation and severe congenital limb disruptions

    Article • American Journal of Medical Genetics, January 2001, Wiley

    EVA BERMEJO-SANCHEZ

  55. It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor

    Article • American Journal of Medical Genetics, January 2001, Wiley

    EVA BERMEJO-SANCHEZ

  56. Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: Comparative epidemiology

    Article • American Journal of Medical Genetics, May 2000, Wiley

    EVA BERMEJO-SANCHEZ

  57. Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects

    Article • American Journal of Medical Genetics, January 2000, Wiley

    EVA BERMEJO-SANCHEZ

  58. Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects

    Article • American Journal of Medical Genetics, January 2000, Wiley

    EVA BERMEJO-SANCHEZ

  59. Isolated small intestinal atresias in Latin America and Spain: Epidemiological analysis

    Article • American Journal of Medical Genetics, January 2000, Wiley

    EVA BERMEJO-SANCHEZ

  60. Limb deficiencies in infants with trisomy 13

    Article • American Journal of Medical Genetics, January 2000, Wiley

    EVA BERMEJO-SANCHEZ

  61. Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations

    Article • American Journal of Medical Genetics, January 2000, Wiley

    EVA BERMEJO-SANCHEZ

  62. Maternal and Fetal Factors Related to Abnormal Amniotic Fluid

    Article • Journal of Perinatology, October 1999, Nature

    EVA BERMEJO-SANCHEZ

  63. Analysis of deformations in 26,810 consecutive infants with congenital defects

    Article • American Journal of Medical Genetics, June 1999, Wiley

    EVA BERMEJO-SANCHEZ

  64. Smoking during pregnancy and Poland sequence: Results of a population-based registry and a case-control registry

    Article • Teratology, January 1999, Wiley

    EVA BERMEJO-SANCHEZ

  65. Smoking during pregnancy and Poland sequence: Results of a population‐based registry and a case‐control registry

    Article • Teratology, January 1999, Wiley

    EVA BERMEJO-SANCHEZ

  66. To the editor:

    Article • Teratology, July 1998, Wiley

    EVA BERMEJO-SANCHEZ

  67. To the Editor:

    Article • Teratology, July 1998, Wiley

    EVA BERMEJO-SANCHEZ

  68. Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers

    Article • American Journal of Medical Genetics, June 1998, Wiley

    EVA BERMEJO-SANCHEZ

  69. Congenital Anomalies in the Offspring of Mothers With a Bicornuate Uterus

    Article • PEDIATRICS, April 1998, American Academy of Pediatrics (AAP)

    EVA BERMEJO-SANCHEZ

  70. Prenatal exposure to penicillamine and oral clefts: Case report

    Article • American Journal of Medical Genetics, March 1998, Wiley

    EVA BERMEJO-SANCHEZ

  71. Cyclopia and sirenomelia in a liveborn infant.

    Article • Journal of Medical Genetics, March 1998, BMJ

    EVA BERMEJO-SANCHEZ

  72. Congenital eye malformations: Clinical‐epidemiological analysis of 1,124,654 consecutive births in Spain

    Article • American Journal of Medical Genetics, February 1998, Wiley

    EVA BERMEJO-SANCHEZ

  73. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

    Article • American Journal of Medical Genetics, February 1998, Wiley

    EVA BERMEJO-SANCHEZ

  74. Prenatal exposure to sex hormones: A case‐control study

    Article • Teratology, January 1998, Wiley

    EVA BERMEJO-SANCHEZ

  75. Amelia: Analysis of its epidemiological and clinical characteristics

    Article • American Journal of Medical Genetics, December 1997, Wiley

    EVA BERMEJO-SANCHEZ

  76. Amelia: Analysis of its epidemiological and clinical characteristics

    Article • American Journal of Medical Genetics, December 1997, Wiley

    EVA BERMEJO-SANCHEZ

  77. Major congenital malformations in Down syndrome

    Article • American Journal of Medical Genetics, November 1997, Wiley

    EVA BERMEJO-SANCHEZ

  78. Correlation between drug exposure and major malformations

    Article • American Journal of Medical Genetics, May 1997, Wiley

    EVA BERMEJO-SANCHEZ

  79. Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations

    Article • American Journal of Medical Genetics, May 1997, Wiley

    EVA BERMEJO-SANCHEZ

  80. Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations

    Article • American Journal of Medical Genetics, May 1997, Wiley

    EVA BERMEJO-SANCHEZ

  81. Correlation between drug exposure and major malformations

    Article • American Journal of Medical Genetics, May 1997, Wiley

    EVA BERMEJO-SANCHEZ

  82. Epidemiological analysis of multi‐site closure failure of neural tube in humans

    Article • American Journal of Medical Genetics, December 1996, Wiley

    EVA BERMEJO-SANCHEZ

  83. Epidemiological analysis of multi-site closure failure of neural tube in humans

    Article • American Journal of Medical Genetics, December 1996, Wiley

    EVA BERMEJO-SANCHEZ

  84. Epidemiological analysis of rare polydactylies

    Article • American Journal of Medical Genetics, November 1996, Wiley

    EVA BERMEJO-SANCHEZ

  85. Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

    Article • American Journal of Medical Genetics, March 1996, Wiley

    EVA BERMEJO-SANCHEZ

  86. Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

    Article • American Journal of Medical Genetics, March 1996, Wiley

    EVA BERMEJO-SANCHEZ

  87. Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry)

    Article • American Journal of Medical Genetics, May 1995, Wiley

    EVA BERMEJO-SANCHEZ

  88. Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis

    Article • American Journal of Medical Genetics, October 1994, Wiley

    EVA BERMEJO-SANCHEZ

  89. Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry

    Article • American Journal of Medical Genetics, July 1994, Wiley

    EVA BERMEJO-SANCHEZ

  90. Chromosome 4p16 and osteochondroplasias

    Article • Nature Genetics, April 1994, Nature

    EVA BERMEJO-SANCHEZ

  91. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia

    Article • American Journal of Medical Genetics, January 1994, Wiley

    EVA BERMEJO-SANCHEZ

  92. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

    Article • American Journal of Medical Genetics, January 1994, Wiley

    EVA BERMEJO-SANCHEZ

  93. Short rib-polydactyly 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?

    Article • American Journal of Medical Genetics, October 1993, Wiley

    EVA BERMEJO-SANCHEZ

  94. Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: A new entity?

    Article • American Journal of Medical Genetics, July 1992, Wiley

    EVA BERMEJO-SANCHEZ

  95. Preaxial polydactyly of feet in infants of diabetic mothers: Epidemiological test of a clinical hypothesis

    Article • American Journal of Medical Genetics, March 1992, Wiley

    EVA BERMEJO-SANCHEZ

  96. Value of clinical analysis in epidemiological research: The Spanish registry experience

    Article • American Journal of Medical Genetics, November 1991, Wiley

    EVA BERMEJO-SANCHEZ

  97. Epidemiological aspects of Mendelian syndromes in a spanish population sample: I. Autosomal dominant malformation syndromes

    Article • American Journal of Medical Genetics, March 1991, Wiley

    EVA BERMEJO-SANCHEZ

  98. Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes

    Article • American Journal of Medical Genetics, March 1991, Wiley

    EVA BERMEJO-SANCHEZ