Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (32)

2014

  1. 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

2012

  1. Talidomida: 50 años después

    Medicina Clinica, Vol. 139, Núm. 1, pp. 25-32

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. 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

  7. 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

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

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

  2. Can our understanding of epigenetics assist with primary prevention of congenital defects?

    Journal of Medical Genetics, Vol. 47, Núm. 2, pp. 73-80

  3. Características generales de los defectos congénitos, terminología y causas

    Semergen, Vol. 36, Núm. 3, pp. 135-139

  4. 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

  5. Prevention, diagnosis and services

    Advances in Experimental Medicine and Biology, Vol. 686, pp. 55-75

  6. 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

  7. 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

  8. 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

  1. 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