M L Martinez-Frias

Summary

Affiliation: Universidad Complutense
Country: Spain

Publications

  1. ncbi request reprint High maternal fever during gestation and severe congenital limb disruptions
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations ECEMC and Departmento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 98:201-3. 2001
  2. ncbi request reprint Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 99:261-9. 2001
  3. ncbi request reprint Heterotaxia as an outcome of maternal diabetes: an epidemiological study
    M L Martinez-Frias
    ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 99:142-6. 2001
  4. ncbi request reprint Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele
    Laura Rodriguez
    ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 110:73-7. 2002
  5. ncbi request reprint Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome
    M L Martinez-Frias
    ECEMC and Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 112:335-7. 2002
  6. ncbi request reprint Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 95:169-73. 2000
  7. ncbi request reprint Limb deficiencies in infants with trisomy 13
    M L Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 93:339-41. 2000
  8. ncbi request reprint Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study
    E Rodriguez-Pinilla
    Estudio Colaborativo Español de Malformaciones Congénitas, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 90:376-81. 2000
  9. ncbi request reprint Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects
    M L Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 90:246-9. 2000
  10. ncbi request reprint Analysis of deformations in 26,810 consecutive infants with congenital defects
    M L Martinez-Frias
    ECEMC and Department of Pharmacology, Universidad Complutense, Madrid, Spain
    Am J Med Genet 84:365-8. 1999

Collaborators

  • L Prieto
  • M J Garcia
  • A Garcia
  • A Villa
  • Laura Rodriguez
  • A H Macdonald
  • R P Cotarelo
  • L Rodríguez Martínez
  • E Rodriguez-Pinilla
  • E Zuazo
  • I Aceña
  • M L Martínez-Fernández
  • D Sanchez-Izquierdo
  • B Prados
  • M C Valero
  • J J Marco
  • J Cruces
  • O Fano
  • A Pena
  • C Nieto
  • M L Martínez Frías
  • A Martinez Carrascal
  • N Jiménez Muñoz-Delgado
  • F López Grondona
  • J Fondevilla
  • I Arroyo
  • S Martínez Santana
  • F Perez Alvarez
  • J L Frias

Detail Information

Publications27

  1. ncbi request reprint High maternal fever during gestation and severe congenital limb disruptions
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations ECEMC and Departmento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 98:201-3. 2001
    ..We conclude that, based on the degree of development of the humeri and the femora and the type of limb deficiencies, this case presents a disruption that most probably occurred in the fourth month of gestation...
  2. ncbi request reprint Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 99:261-9. 2001
    ....
  3. ncbi request reprint Heterotaxia as an outcome of maternal diabetes: an epidemiological study
    M L Martinez-Frias
    ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 99:142-6. 2001
    ..87; CI:7.36-519.82), and transposition of viscera (OR=24.82; CI;1.84-335.44)...
  4. ncbi request reprint Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele
    Laura Rodriguez
    ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 110:73-7. 2002
    ..We could not perform molecular studies in this patient to confirm the HLXB9 haploinsufficiency, but we postulate that he carried it...
  5. ncbi request reprint Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome
    M L Martinez-Frias
    ECEMC and Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 112:335-7. 2002
    ..18 (0.61-2.35); P > 0.70. Based on our results, we conclude that Down syndrome is related to maternal age, but does not seem to be related to any type of maternal diabetes...
  6. ncbi request reprint Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations
    M L Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 95:169-73. 2000
    ....
  7. ncbi request reprint Limb deficiencies in infants with trisomy 13
    M L Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 93:339-41. 2000
    ..51 per 10,000 births in our population. Consequently, we think that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13...
  8. ncbi request reprint Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study
    E Rodriguez-Pinilla
    Estudio Colaborativo Español de Malformaciones Congénitas, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 90:376-81. 2000
    ....
  9. ncbi request reprint Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects
    M L Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 90:246-9. 2000
    ....
  10. ncbi request reprint Analysis of deformations in 26,810 consecutive infants with congenital defects
    M L Martinez-Frias
    ECEMC and Department of Pharmacology, Universidad Complutense, Madrid, Spain
    Am J Med Genet 84:365-8. 1999
    ....
  11. ncbi request reprint VACTERL as primary, polytopic developmental field defects
    M L Martinez-Frias
    ECEMC and Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 83:13-6. 1999
    ..This causal heterogeneity, which is of crucial importance in defining developmental fields, gives additional credence to the hypothesis that VACTERL constitutes a primary polytopic DFD...
  12. ncbi request reprint [Inverted duplication of the short arm of chromosome 8]
    L Rodríguez Martínez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC, Facultad de Medicina, Universidad Complutense, Madrid
    An Esp Pediatr 55:458-62. 2001
    ..The definitive karyotype was 46, XY or XX inv dup del (8) (qter-p23.1::p23.1-p11.2).ish (WCP 8 ) (tel 8p-)...
  13. ncbi request reprint Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes
    M L Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain
    Diabet Med 22:775-81. 2005
    ..The aim of the present study was to identify characteristics in women diagnosed with gestational diabetes mellitus (GDM) that could be predictive of congenital malformations in their infants...
  14. ncbi request reprint Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology
    M L Martinez-Frias
    ECEMC and Departamento de Farmacología Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 92:13-8. 2000
    ..This may indicate that the former group is produced during the very early gestation...
  15. ncbi request reprint Periconceptional exposure to contraceptive pills and risk for Down syndrome
    M L Martinez-Frias
    ECEMC and Departmento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    J Perinatol 21:288-92. 2001
    ..We analyzed the risk for Down syndrome in infants of women who become pregnant while taking OC...
  16. ncbi request reprint Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity
    M L Martinez-Frias
    ECEMC and Dpto de Farmacología, Universidad Complutense, Madrid, Spain
    Teratology 63:38-41. 2001
    ..Because this drug is an over-the-counter drug, the suggestion of those authors has led to great controversy and public concern about the possible teratogenic effect of this drug on the human embryo...
  17. ncbi request reprint [Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects]
    M L Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense, Madrid, Espana
    An Pediatr (Barc) 65:541-50. 2006
    ..The objective of this study was to comparatively analyze SUA in two series of consecutive births, with and without congenital defects...
  18. ncbi request reprint The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
    L Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 143:995-8. 2007
    ..This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs...
  19. doi request reprint Subtelomeric deletion of 12p: Description of a third case and review
    A H Macdonald
    Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 152:1561-6. 2010
    ..In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature...
  20. ncbi request reprint Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review
    L Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 143:2727-32. 2007
    ..His healthy mother had the same sSMC in all analyzed cells. With the present case, we support the previous suggestion that this unusual chromosome trisomy 18p has little clinical repercussions...
  21. doi request reprint A small and active ring X chromosome in a female with features of Kabuki syndrome
    L Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 146:2816-21. 2008
    ..A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient...
  22. ncbi request reprint 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?
    M L Martinez-Frias
    ECEMC Coordinating Group, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    Am J Med Genet 47:782-7. 1993
    ..Molecular studies may answer this question in the near future...
  23. ncbi request reprint Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case
    S Martínez Santana
    Unidad Neonatal, Hospital de Girona Dr Trueta, Madrid, Spain
    Am J Med Genet 47:20-3. 1993
    ..To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991]...
  24. doi request reprint Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
    R P Cotarelo
    Departamento de Bioquimica, Instituto de Investigaciones Biomedicas Alberto Sols CSIC UAM, Facultad de Medicina, Universidad Autonoma de Madrid, Madrid, Spain
    Clin Genet 73:139-45. 2008
    ..This deletion would probably result in the complete loss of the fukutin transcripts from this allele. This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS...
  25. doi request reprint Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis
    M L Martinez-Frias
    ECEMC, Centro de Investigación de Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 155:197-202. 2011
    ..In addition, we evaluated recent observations that FGF ligands and receptors (including FGFR3) act in concert to organize the whole telencephalon activity, rather than independently patterning different areas...
  26. doi request reprint The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome
    M L Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III ISCIII, Centre for Biomedical Research on Rare Diseases, ISCIII, Madrid, Spain
    Am J Med Genet A 146:1477-82. 2008
    ..This may also influence the probability that some embryos survive to birth, but in different way for those with and without trisomy 21, as is discussed in this article...
  27. doi request reprint A highly specific coding system for structural chromosomal alterations
    M L Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain
    Am J Med Genet A 161:732-6. 2013
    ..Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program...