MARÍA LUISA
MARTÍNEZ FRÍAS
Investigadora no período 2008-2013
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (32)
2014
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Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation
American Journal of Medical Genetics, Part A, Vol. 164, Núm. 3, pp. 639-647
2013
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A 2.84Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome
American Journal of Medical Genetics, Part A, Vol. 161, Núm. 9, pp. 2281-2290
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A highly specific coding system for structural chromosomal alterations
American Journal of Medical Genetics, Part A, Vol. 161, Núm. 4, pp. 732-736
2012
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Talidomida: 50 años después
Medicina Clinica, Vol. 139, Núm. 1, pp. 25-32
2011
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Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 262-273
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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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 288-304
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Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301
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Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 274-287
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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome
PLoS Genetics, Vol. 7, Núm. 7
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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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 305-320
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Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 157, Núm. 4, pp. 358-373
2010
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Actualización de conocimientos sobre formación de los gametos. Procesos de meiosis y fecundación
Semergen, Vol. 36, Núm. 4, pp. 216-220
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Can our understanding of epigenetics assist with primary prevention of congenital defects?
Journal of Medical Genetics, Vol. 47, Núm. 2, pp. 73-80
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Características generales de los defectos congénitos, terminología y causas
Semergen, Vol. 36, Núm. 3, pp. 135-139
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Estructura y funcion del ADN y de los genes. I Tipos de alteraciones de la funcion del gen por mutaciones
Semergen, Vol. 36, Núm. 5, pp. 273-277
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Prevention, diagnosis and services
Advances in Experimental Medicine and Biology, Vol. 686, pp. 55-75
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Review of the development of molecular cytogenetic and genetic techniques for identifying genetic anomalies in embryonic development
Semergen, Vol. 36, Núm. 9, pp. 520-525
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Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
American Journal of Medical Genetics, Part A, Vol. 152, Núm. 1, pp. 245-255
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Subtelomeric deletion of 12p: Description of a third case and review
American Journal of Medical Genetics, Part A, Vol. 152, Núm. 6, pp. 1561-1566
2009
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Conjoined twins presenting with different sex: Description of a second case that truly represents the earliest historical evidence in humans
American Journal of Medical Genetics, Part A