Eva Bermejo

Summary

Affiliation: Instituto de Salud Carlos III
Country: Spain

Publications

  1. doi request reprint 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
    Eva Bermejo-Sánchez
    Instituto de Investigacion de Enfermedades Raras, Madrid, Spain
    Am J Med Genet C Semin Med Genet 157:288-304. 2011
  2. doi request reprint Prevention, diagnosis and services
    Eva Bermejo
    Rare Diseases Research Institute IIER, Instituto de Salud Carlos III, Madrid, Spain
    Adv Exp Med Biol 686:55-75. 2010
  3. ncbi request reprint Craniofacial dyssynostosis: description of the first four Spanish cases and review
    Eva Bermejo
    ECEMC, CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 132:41-8. 2005
  4. doi request reprint 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
    Eva Bermejo-Sánchez
    Instituto de Investigacion de Enfermedades Raras, Madrid, Spain
    Am J Med Genet C Semin Med Genet 157:305-20. 2011
  5. ncbi request reprint [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 128:137-40. 2007
  6. doi request reprint Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, del Instituto de Salud Carlos III, Madrid, Spain
    J Pediatr Surg 44:811-20. 2009
  7. ncbi request reprint Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, del Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 146:15-25. 2008
  8. ncbi request reprint Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family
    Maria Luisa Martinez-Frias
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 137:288-91. 2005
  9. ncbi request reprint 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?
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 140:987-97. 2006
  10. ncbi request reprint [Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications]
    Jacobo Mendioroz
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Med Clin (Barc) 131:741-6. 2008

Collaborators

Detail Information

Publications27

  1. doi request reprint 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
    Eva Bermejo-Sánchez
    Instituto de Investigacion de Enfermedades Raras, Madrid, Spain
    Am J Med Genet C Semin Med Genet 157:288-304. 2011
    ..The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly...
  2. doi request reprint Prevention, diagnosis and services
    Eva Bermejo
    Rare Diseases Research Institute IIER, Instituto de Salud Carlos III, Madrid, Spain
    Adv Exp Med Biol 686:55-75. 2010
    ..It is finally emphasized how the epidemiological data can contribute to the prevention of that group of rare diseases...
  3. ncbi request reprint Craniofacial dyssynostosis: description of the first four Spanish cases and review
    Eva Bermejo
    ECEMC, CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 132:41-8. 2005
    ..It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered...
  4. doi request reprint 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
    Eva Bermejo-Sánchez
    Instituto de Investigacion de Enfermedades Raras, Madrid, Spain
    Am J Med Genet C Semin Med Genet 157:305-20. 2011
    ..8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes...
  5. ncbi request reprint [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 128:137-40. 2007
    ..It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported...
  6. doi request reprint Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, del Instituto de Salud Carlos III, Madrid, Spain
    J Pediatr Surg 44:811-20. 2009
    ..The aim of the study was to analyze the frequency and certain epidemiological characteristics of a consecutive series of conjoined twins born in Spain...
  7. ncbi request reprint Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, del Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 146:15-25. 2008
    ..The results, together with the embryonic development of the umbilical cord, strongly suggest that not all cases of SUA have the same cause, and that all previously suggested mechanisms may be possible but with different frequencies...
  8. ncbi request reprint Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family
    Maria Luisa Martinez-Frias
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 137:288-91. 2005
    ..This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30-33), although with variable expressivity...
  9. ncbi request reprint 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?
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 140:987-97. 2006
    ..Three possible mechanisms are considered by evaluating the results in the light of the present knowledge on cytology and molecular biology...
  10. ncbi request reprint [Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications]
    Jacobo Mendioroz
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Med Clin (Barc) 131:741-6. 2008
    ..Alström syndrome is caused by specific mutations in the ALMS1 gene, located at chromosome 2p13...
  11. ncbi request reprint [Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population]
    Maria Luisa Martinez-Frias
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III ISCIII, Ministerio de Sanidad y Consumo, Madrid, Espana
    Med Clin (Barc) 131:81-8. 2008
    ..The study included a meta-analysis of the published data...
  12. ncbi request reprint [Analysis of the Spanish situation regarding folic acid/calcic folinate consumption for birth defects prevention]
    M Luisa Martínez-Frías
    Departamento de Farmacología Facultad de Medicina Universidad Complutense Madrid España
    Med Clin (Barc) 121:772-5. 2003
    ..Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects has become general in developed countries. In this paper, we analyze such a situation in Spain in most recent years...
  13. ncbi request reprint [Secular evolution and evolution according to autonomous communities of the frequency of fertility treatments, multiple deliveries and cesarean sections in Spain]
    Maria Luisa Martinez-Frias
    Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Med Clin (Barc) 124:132-9. 2005
    ..Because maternal age has increased in Spain, it can also be expected an increase in these variables. We analyzed their evolution over the time and by maternal age, either globally and by Spanish Autonomous Communities...
  14. ncbi request reprint [Tobacco smoking during pregnancy in Spain: an analysis according to years, autonomous communities and maternal characteristics]
    Maria Luisa Martinez-Frias
    ECEMC y Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Med Clin (Barc) 124:86-92. 2005
    ..The information about the convenience of non-smoking during pregnancy has increased in recent years. For this reason, we studied weather there has been any variation in smoking habits by pregnant women in Spain...
  15. ncbi request reprint Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: a case-control study
    Maria Luisa Martinez-Frias
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Birth Defects Res A Clin Mol Teratol 70:194-200. 2004
    ..We report an epidemiological study of the potential risk of congenital defects in the offspring of mothers who ingested different sporadic and daily amounts of alcohol during pregnancy...
  16. ncbi request reprint [Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants]
    Maria Luisa Martinez-Frias
    ECEMC, CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Espana
    Med Clin (Barc) 122:361-4. 2004
    ..In that study Spain participated through the ECEMC group. Here we present the distribution of the frequency of the T-allele by Spanish Regions (Autonomic Comunities)...
  17. pmc Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
    María Palomares
    Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular INGEMM, Instituto de Investigación Sanitaria IdIPAZ, Hospital Universitario La Paz, Madrid, Spain
    Am J Hum Genet 89:295-301. 2011
    ..Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome...
  18. ncbi request reprint Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13
    Jacobo Mendioroz
    Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 135:211-3. 2005
    ..We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome...
  19. ncbi request reprint Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain
    Maria Luisa Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Birth Defects Res A Clin Mol Teratol 70:75-81. 2004
    ..We studied the secular trend of hypospadias in Spain over the past 22 years, separating the minor and major forms...
  20. doi request reprint Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III ISCIII, Sinesio Delgado 6, 28029 Madrid, Spain
    Am J Med Genet A 152:245-55. 2010
    ..This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target...
  21. ncbi request reprint [Analysis of temporal evolution in alcohol consumption during pregnancy in the Spanish autonomic communities]
    Maria Luisa Martinez-Frias
    ECEMC Centro de Investigación sobre Anomalías Congénitas CIAC Instituto de Salud Carlos III Departamento de Farmacología Facultad de Medicina Universidad Complutense Madrid Spain
    Med Clin (Barc) 120:535-41. 2003
    ..The fetal alcohol syndrome (FAS) is considered as the main preventable cause of congenital defects and mental deficiency. We analyzed whether the consumption of alcohol during gestation has changed in Spain...
  22. ncbi request reprint New findings in craniofacial dyssynostosis
    Eva Bermejo
    Am J Med Genet A 134:344-5. 2005
  23. ncbi request reprint Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study
    Maria Luisa Martinez-Frias
    Am J Med Genet A 126:430-1. 2004
  24. ncbi request reprint Gastroschisis and associated defects: an international study
    Pierpaolo Mastroiacovo
    Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
    Am J Med Genet A 143:660-71. 2007
    ..An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review...
  25. ncbi request reprint Pilot study of socioeconomic class, nutrition and birth defects in Spain
    Panta Rouhani
    Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Suite 200, Miami, FL 33136, USA
    Matern Child Health J 11:403-5. 2007
    ..Our analysis showed that the risk of NTDs did not vary by SES. This finding suggests that increased access to folate and nutrition education might benefit women of lower SES in the US...
  26. ncbi request reprint MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women
    Maria Luisa Martinez-Frias
    Am J Med Genet A 134:461; author reply 462. 2005
  27. pmc The incidence of gastroschisis: is also increasing in Spain, particularly among babies of young mothers
    Eva Bermejo
    BMJ 332:424. 2006