MARÍA LUISA
MARTÍNEZ FRÍAS
Investigadora en el període 2008-2013
Publicacions (68) Publicacions de MARÍA LUISA MARTÍNEZ FRÍAS
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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Consideraciones generales de teratogenia: principales agentes teratogénicos
Tratado de ginecología y obstetricia (Madrid : Médica Panamericana), pp. 1719-1725
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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
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Talidomida: 50 años después
Medicina Clinica, Vol. 139, Núm. 1, pp. 25-32
2011
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A clinical and experimental overview of sirenomelia: Insight into the mechanisms of congenital limb malformations
DMM Disease Models and Mechanisms, Vol. 4, Núm. 3, pp. 289-299
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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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Pautas de prevención de defectos congénitos con especial referencia a los niveles primario y secundario. Guías de actuación preventiva desde la atención primaria
Semergen: revista española de medicina de familia, Núm. 8, pp. 412-417
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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