Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (47)

2021

  1. Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

    Frontiers in Genetics, Vol. 12

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

  2. 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

  3. 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

  4. Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 3, pp. 639-647

2013

  1. 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

  2. A highly specific coding system for structural chromosomal alterations

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 4, pp. 732-736

  3. 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

  1. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome

    PLoS Genetics, Vol. 7, Núm. 7

  6. Paper 6: EUROCAT member registries: Organization and activities

    Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 91, Núm. SUPPL. 1

  7. 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

  8. 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

  9. Síndrome lumbocostovertebral

    Acta Pediatrica Espanola

  10. 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

  1. Actualización de conocimientos sobre formación de los gametos. Procesos de meiosis y fecundación

    Semergen, Vol. 36, Núm. 4, pp. 216-220