All Stories

  1. Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    Article • Journal of Clinical Investigation, November 2025, American Society for Clinical Investigation

    EVA BERMEJO-SANCHEZ

  2. De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity

    Article • September 2025, Cold Spring Harbor Laboratory Press

    EVA BERMEJO-SANCHEZ

  3. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    Article • Journal of Clinical Investigation, May 2023, American Society for Clinical Investigation

    EVA BERMEJO-SANCHEZ

  4. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

    Article • International Journal of Molecular Sciences, August 2022, MDPI AG

    EVA BERMEJO-SANCHEZ

  5. A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy

    Article • American Journal of Perinatology, May 2022, Thieme Publishing Group

    EVA BERMEJO-SANCHEZ

  6. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Article • European Journal of Human Genetics, August 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  7. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Article • European Journal of Human Genetics, August 2021, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  8. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Article • European Journal of Human Genetics, August 2021, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  9. Prevention of Neural Tube Defects in Europe: A Public Health Failure

    Article • Frontiers in Pediatrics, June 2021, Frontiers

    EVA BERMEJO-SANCHEZ

  10. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Article • European Journal of Human Genetics, June 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  11. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Article • European Journal of Human Genetics, June 2021, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  12. Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Article • European Journal of Human Genetics, May 2021, Springer Science + Business Media

    Mr Lennart Johansson, EVA BERMEJO-SANCHEZ

  13. Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study

    Article • Annals of Epidemiology, April 2021, Elsevier

    EVA BERMEJO-SANCHEZ

  14. Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

    Article • Birth Defects Research, March 2021, Wiley

    EVA BERMEJO-SANCHEZ

  15. Smoking during pregnancy: changes and associated risk factors in Spain, 1980-2016

    Article • Journal of Public Health, February 2021, Oxford University Press (OUP)

    EVA BERMEJO-SANCHEZ

  16. Neonatal myocardial ischemia and calcifications. Report of a case of generalized arterial calcification of infancy

    Article • Revista Española de Cardiología (English Edition), February 2021, Elsevier

    EVA BERMEJO-SANCHEZ

  17. Isquemia miocárdica neonatal y calcificaciones, presentación de un caso de calcificación arterial generalizada de la infancia

    Article • Revista Española de Cardiología, February 2021, Elsevier

    EVA BERMEJO-SANCHEZ

  18. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

    Article • American Journal of Medical Genetics Part A, December 2020, Wiley

    EVA BERMEJO-SANCHEZ

  19. A multi‐country study of prevalence and early childhood mortality among children with omphalocele

    Article • Birth Defects Research, October 2020, Wiley

    Maria Politis, EVA BERMEJO-SANCHEZ

  20. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

    Article • Human Mutation, July 2020, Wiley

    EVA BERMEJO-SANCHEZ

  21. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    Article • Orphanet Journal of Rare Diseases, February 2020, Springer Science + Business Media

    Daniel Grinberg, EVA BERMEJO-SANCHEZ

  22. Heterozygous pathogenic variants inGLI1are a common finding in isolated postaxial polydactyly A/B

    Article • Human Mutation, November 2019, Wiley

    EVA BERMEJO-SANCHEZ

  23. Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012

    Article • Paediatric and Perinatal Epidemiology, October 2019, Wiley

    EVA BERMEJO-SANCHEZ

  24. Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014

    Article • Alcoholism Clinical and Experimental Research, October 2019, Wiley

    EVA BERMEJO-SANCHEZ

  25. Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

    Article • European Urology, October 2019, Elsevier

    EVA BERMEJO-SANCHEZ

  26. Join World Birth Defects Day

    Article • Pediatric Research, April 2019, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  27. Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

    Article • Orphanet Journal of Rare Diseases, April 2019, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  28. Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective

    Article • Journal of Community Genetics, September 2018, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  29. SpainUDP: The Spanish Undiagnosed Rare Diseases Program

    Article • International Journal of Environmental Research and Public Health, August 2018, MDPI AG

    Manuel Posada, EVA BERMEJO-SANCHEZ

  30. A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

    Article • International Journal of Environmental Research and Public Health, August 2018, MDPI AG

    Manuel Posada, EVA BERMEJO-SANCHEZ

  31. SpainUDP: The Spanish Undiagnosed Rare Diseases Program

    Article • June 2018, MDPI AG

    Manuel Posada, EVA BERMEJO-SANCHEZ

  32. Congenital Anomalies: Cluster Detection and Investigation

    Article • January 2017, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ, Manuel Posada

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

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

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

  51. 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

  52. Frecuencias de defectos congénitos al nacimiento en España y su comportamiento temporal y por comunidades autónomas. Causas de las variaciones de las frecuencias

    Article • Medicina de Familia SEMERGEN, October 2010, Elsevier

    EVA BERMEJO-SANCHEZ

  53. Prevention, Diagnosis and Services

    Article • January 2010, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  54. 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

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

    Article • Journal of Pediatric Surgery, April 2009, Elsevier

    EVA BERMEJO-SANCHEZ

  56. 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

  57. Presentación de un caso con síndrome de Alström: aspectos clínicos, moleculares y guías diagnósticas y anticipatorias

    Article • Medicina Clínica, November 2008, Elsevier

    EVA BERMEJO-SANCHEZ

  58. 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

  59. Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española

    Article • Medicina Clínica, June 2008, Elsevier

    EVA BERMEJO-SANCHEZ

  60. Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

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

    EVA BERMEJO-SANCHEZ

  61. Adecuación de las dosis de ácido fólico en la prevención de defectos congénitos

    Article • Medicina Clínica, April 2007, Elsevier

    EVA BERMEJO-SANCHEZ

  62. 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

  63. 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

  64. Síndrome de Dyggve-Melchior-Clausen: presentación de un caso con una mutación de posible origen español

    Article • Medicina Clínica, February 2007, Elsevier

    EVA BERMEJO-SANCHEZ

  65. Gastroschisis and associated defects: An international study

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

    EVA BERMEJO-SANCHEZ

  66. 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

  67. Características de los neonatos con y sin arteria umbilical única. Análisis de dos series consecutivas de recién nacidos con y sin defectos congénitos

    Article • Anales de Pediatría, December 2006, Elsevier

    EVA BERMEJO-SANCHEZ

  68. 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

  69. Análisis comparativo de las frecuencias de ciertos defectos congénitos y su evolución secular en 11 comunidades autónomas

    Article • Progresos de Obstetricia y Ginecología, May 2006, Sociedad Espanola de Nutricion Parenteral y Enteral (SENPE)

    EVA BERMEJO-SANCHEZ

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

    Article • BMJ, February 2006, BMJ

    EVA BERMEJO-SANCHEZ

  71. 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

  72. Respuesta de los autores

    Article • Medicina Clínica, October 2005, Elsevier

    EVA BERMEJO-SANCHEZ

  73. Posibles sesgos metodológicos en estudios de prevalencia del hábito de fumar durante el embarazo en España

    Article • Medicina Clínica, October 2005, Elsevier

    EVA BERMEJO-SANCHEZ

  74. 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

  75. New findings in craniofacial dyssynostosis

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

    EVA BERMEJO-SANCHEZ

  76. 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

  77. 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

  78. 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

  79. 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

  80. 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

  81. 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

  82. 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

  83. Frecuencia de la mutación 677C-T del gen de la metilentetrahidrofolato reductasa en una muestra de 652 recién nacidos de toda España

    Article • Medicina Clínica, March 2004, Elsevier

    EVA BERMEJO-SANCHEZ

  84. 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

  85. Frecuencia de la mutación 677C-T del gen de la metilentetrahidrofolato reductasa en una muestra de 652 recién nacidos de toda España

    Article • Medicina Clínica, January 2004, Elsevier

    EVA BERMEJO-SANCHEZ

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

    Article • Medicina Clínica, December 2003, Elsevier

    EVA BERMEJO-SANCHEZ

  87. 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

  88. 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

    Article • Journal of Medical Genetics, August 2003, BMJ

    EVA BERMEJO-SANCHEZ

  89. 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

  90. 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

  91. 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

  92. 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

  93. Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada

    Article • American Journal of Medical Genetics Part A, September 2002, Wiley

    EVA BERMEJO-SANCHEZ

  94. Nowadays it is preceptive to perform chromosomal studies with high resolution G‐bands and FISH techniques when necessary

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

    EVA BERMEJO-SANCHEZ

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

    Article • Clinical Genetics, January 2002, Wiley

    EVA BERMEJO-SANCHEZ

  96. 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

  97. 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

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

    Article • Perinatal Journal, August 2001, Nature

    EVA BERMEJO-SANCHEZ

  99. 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

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

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

    EVA BERMEJO-SANCHEZ

  101. 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

  102. On the symmetry of limb deficiencies among childrenwith multiple congenital anomalies

    Article • Annales de Génétique, January 2001, Elsevier

    EVA BERMEJO-SANCHEZ

  103. 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

  104. Spina bifida and parental occupation: Results from three malformation monitoring programs in Europe

    Article • European Journal of Epidemiology, April 2000, Springer Science + Business Media

    EVA BERMEJO-SANCHEZ

  105. 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

  106. 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

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

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

    EVA BERMEJO-SANCHEZ

  108. Limb deficiencies in infants with trisomy 13

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

    EVA BERMEJO-SANCHEZ

  109. 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

  110. Maternal and Fetal Factors Related to Abnormal Amniotic Fluid

    Article • Perinatal Journal, October 1999, Nature

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  112. 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

  113. 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

  114. To the editor:

    Article • Teratology, July 1998, Wiley

    EVA BERMEJO-SANCHEZ

  115. To the Editor:

    Article • Teratology, July 1998, Wiley

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  119. Cyclopia and sirenomelia in a liveborn infant.

    Article • Journal of Medical Genetics, March 1998, BMJ

    EVA BERMEJO-SANCHEZ

  120. 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

  121. 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

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

    Article • Teratology, January 1998, Wiley

    EVA BERMEJO-SANCHEZ

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

    Article • Teratology, January 1998, Wiley

    EVA BERMEJO-SANCHEZ

  124. Amelia: Analysis of its epidemiological and clinical characteristics

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

    EVA BERMEJO-SANCHEZ

  125. Amelia: Analysis of its epidemiological and clinical characteristics

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

    EVA BERMEJO-SANCHEZ

  126. Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: Two additional cases that expand the phenotype to a more generalized effect on blastogenesis

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

    EVA BERMEJO-SANCHEZ

  127. Major congenital malformations in Down syndrome

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

    EVA BERMEJO-SANCHEZ

  128. Correlation between drug exposure and major malformations

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

    EVA BERMEJO-SANCHEZ

  129. 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

  130. 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

  131. Correlation between drug exposure and major malformations

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  134. Epidemiological analysis of rare polydactylies

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

    EVA BERMEJO-SANCHEZ

  135. Erratum

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  138. 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

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

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

    EVA BERMEJO-SANCHEZ

  140. 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

  141. Chromosome 4p16 and osteochondroplasias

    Article • Nature Genetics, April 1994, Nature

    EVA BERMEJO-SANCHEZ

  142. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia

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

    EVA BERMEJO-SANCHEZ

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

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

    EVA BERMEJO-SANCHEZ

  144. Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

    Article • Journal of Medical Genetics, November 1993, BMJ

    EVA BERMEJO-SANCHEZ

  145. 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

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

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

    EVA BERMEJO-SANCHEZ

  147. 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

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

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

    EVA BERMEJO-SANCHEZ

  149. 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

  150. 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