Maria Luisa Martinez-Frias

Summary

Affiliation: Instituto de Salud Carlos III
Country: Spain

Publications

  1. 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
  2. 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
  3. doi request reprint Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures
    Maria Luisa Martinez-Frias
    Facultad de Medicine, Departmento de Farmacologia, Universidad Complutense de Madrid, Spain
    Am J Med Genet A 158:2526-33. 2012
  4. doi request reprint [The thalidomide experience: review of its effects 50 years later]
    Maria Luisa Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense de Madrid Madrid, Espana
    Med Clin (Barc) 139:25-32. 2012
  5. pmc Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report
    Joaquín Fernández-Toral
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    J Med Case Reports 4:239. 2010
  6. ncbi request reprint Postmarketing analysis of medicines: methodology and value of the spanish case-control study and surveillance system in preventing birth defects
    Maria Luisa Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations and the Research Center of Congenital Anomalies, Instituto de Salud Carlos III, Facultad de Medicina de la Universidad Complutense de Madrid, Madrid, Spain
    Drug Saf 30:307-16. 2007
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications62

  1. 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...
  2. 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...
  3. doi request reprint Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures
    Maria Luisa Martinez-Frias
    Facultad de Medicine, Departmento de Farmacologia, Universidad Complutense de Madrid, Spain
    Am J Med Genet A 158:2526-33. 2012
    ....
  4. doi request reprint [The thalidomide experience: review of its effects 50 years later]
    Maria Luisa Martinez-Frias
    Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense de Madrid Madrid, Espana
    Med Clin (Barc) 139:25-32. 2012
    ....
  5. pmc Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report
    Joaquín Fernández-Toral
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    J Med Case Reports 4:239. 2010
    ..Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs...
  6. ncbi request reprint Postmarketing analysis of medicines: methodology and value of the spanish case-control study and surveillance system in preventing birth defects
    Maria Luisa Martinez-Frias
    Spanish Collaborative Study of Congenital Malformations and the Research Center of Congenital Anomalies, Instituto de Salud Carlos III, Facultad de Medicina de la Universidad Complutense de Madrid, Madrid, Spain
    Drug Saf 30:307-16. 2007
    ..The description of the ECEMC's approach to surveillance of the effects of drug use during pregnancy may help researches in this area, particularly those using data from birth defects registries...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. ncbi request reprint [Folic acid dose in the prevention of congenital defects]
    Maria Luisa Martinez-Frias
    Facultad de Medicina, Universidad Complutense de Madrid, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 128:609-16. 2007
    ..The objective of this study is to analyze the doses of synthetic FA that are being currently used in Spain, as well as its secular and geographic distribution...
  13. ncbi request reprint Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 146:26-34. 2008
    ..Although this observation requires confirmation, we do suggest close attention to newborns with these three signs...
  14. 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...
  15. doi request reprint Genetic drift. The balance of nature: reflections on the physics and mathematics structure of the living world and the human genome
    Maria Luisa Martinez-Frias
    Research Centre on Congenital Anomalies CIAC, Institute of Health Carlos III ISCIII, Madrid, Spain
    Am J Med Genet A 146:1781-7. 2008
  16. 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...
  17. 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...
  18. doi request reprint Can our understanding of epigenetics assist with primary prevention of congenital defects?
    Maria Luisa Martinez-Frias
    1The Congenital Anomalies Research Centre CIAC, Institute of Health Carlos III ISCIII, Madrid 28029, Spain
    J Med Genet 47:73-80. 2010
    ..The experimental and epidemiological evidence of environmental agents that cause epigenetic alterations is evaluated, as well as their effects in males and females. As a result, new avenues for primary prevention are proposed...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. doi request reprint Epidemiology of acephalus/acardius monozygotic twins: new insights into an epigenetic causal hypothesis
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet A 149:640-9. 2009
    ....
  26. 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...
  27. ncbi request reprint The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 136:175-8. 2005
    ..This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98-D4S16, and it is called "WHSCR-2" [Zollino et al., 2003]...
  28. ncbi request reprint Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects
    Laura Rodriguez
    Spanish Collaborative Study of Congenital Malformations ECEMC, Research Center of Congenital Anomalies CIAC, Carlos III Health Institute, Ministry of Health and Consumer Affairs, Madrid, Spain
    Clin Dysmorphol 17:5-12. 2008
    ....
  29. ncbi request reprint Pure partial trisomy 7q: two new patients and review
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC, Centro de Investigación sobre Anomalías Congéticas CIAC, Instituto de Salud Carlos III, Madrid, Spain
    Am J Med Genet 113:218-24. 2002
    ..Of the patients presented here, patient 1 had trisomy of those three regions, and patient 2 had trisomy of two of those regions...
  30. 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...
  31. ncbi request reprint Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Am J Med Genet A 122:119-24. 2003
    ..A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;22)(q24.3;q13.3) in both cases...
  32. 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)...
  33. ncbi request reprint Three new cases with a supernumerary ring chromosome 1
    Laura Rodriguez
    Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain
    Clin Dysmorphol 14:169-75. 2005
    ..e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature...
  34. ncbi request reprint [Antenatal exposure to corticosteroids for fetal lung maturation and its repercussion on weight, length and head circumference in the newborn infant]
    Elvira Rodriguez-Pinilla
    Centro de Investigación sobre Anomalías Congénitas CIAC, Sección de Teratología Clínica y Servicio de Información sobre Teratógenos SITTE, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 127:361-7. 2006
    ..To study the effects of antenatal corticosteroids treatment to promote fetal lung maturation, on fetal growth, depending on the number of the courses administered...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. pmc A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
    Laura Rodriguez
    Estudio Colaborativo Español de Malformaciones Congénitas ECEMC del Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
    Mol Cytogenet 1:4. 2008
    ..In fact, the presence of euchromatin material from the long arm (16q) in the sSMC was demonstrated, and the karyotype can be written as mos 47, XY,+min(16)(:p11.1->q12.1:)[20]/46, XY [10]...
  45. 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
    ....
  46. 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...
  47. 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...
  48. ncbi request reprint [Adverse effects of selective serotonin reuptake inhibitors use during the third trimester of pregnancy and prevention guidelines]
    Consuelo Mejías
    Sección de Teratología Clínica y Servicios de Información Telefónica sobre Teratógenos SITTE y SITE, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 128:584-9. 2007
    ..Moreover, some guidelines for the rational use of these drugs during the last trimester of pregnancy and for the management of prenatally exposed newborns are provided...
  49. doi request reprint [Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?]
    F J Climent Alcalá
    Hospital Universitario La Paz, Madrid, Espana
    An Pediatr (Barc) 72:210-4. 2010
    ..Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype...
  50. 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
    ....
  51. 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...
  52. 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...
  53. 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...
  54. 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]...
  55. 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...
  56. 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
    ....
  57. 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...
  58. 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
    ....
  59. 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)...
  60. 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-)...
  61. 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...
  62. 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
    ....