MARÍA LUISA
MARTÍNEZ FRÍAS
Forscherin in der Zeit 2008-2013
Instituto de Salud Carlos III
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Instituto de Salud Carlos III (47)
2021
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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
Frontiers in Genetics, Vol. 12
2014
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A new overgrowth syndrome is due to mutations in RNF125
Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441
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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
Public Health Genomics, Vol. 17, Núm. 2, pp. 115-123
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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome
American Journal of Medical Genetics, Part A, Vol. 164, Núm. 2, pp. 338-345
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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
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Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes
Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 97, Núm. 12, pp. 781-785
2012
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Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures
American Journal of Medical Genetics, Part A, Vol. 158 A, Núm. 10, pp. 2526-2533
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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Paper 6: EUROCAT member registries: Organization and activities
Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 91, Núm. SUPPL. 1
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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
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Síndrome lumbocostovertebral
Acta Pediatrica Espanola
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Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis
American Journal of Medical Genetics, Part A, Vol. 155, Núm. 1, pp. 197-202
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