Publications en collaboration avec des chercheurs de Hospital Universitario de Basurto (11)

2023

  1. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2013

  1. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 9, pp. 2363-2368

2009

  1. Risk of cognitive impairment in female Premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 2, pp. 262-270

2001

  1. Diagnóstico molecular por reacción en cadena de la polimerasa del síndrome X frágil: Aplicación de un protocolo diagnóstico en 50 familias del norte de España

    Anales Espanoles de Pediatria, Vol. 54, Núm. 4, pp. 331-339

  2. La prevención del síndrome X frágil mediante el diagnóstico prenatal genético: Ventajas y aspectos controvertidos

    Revista de Neurologia, Vol. 33, Núm. SUPPL. 1

1999

  1. Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country [2]

    Clinical Genetics

  2. Screening for female fragile X premutation and full mutation carriers: A commentary on the work of Wildhagen et al. [1] [2]

    Community Genetics

1998

  1. Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country

    Journal of Medical Genetics, Vol. 35, Núm. 5, pp. 387-390

1994

  1. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome

    Journal of Medical Genetics, Vol. 31, Núm. 1, pp. 76-78

1992

  1. A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister‐Killian syndrome)

    Prenatal Diagnosis, Vol. 12, Núm. 6, pp. 529-534

1991

  1. Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs

    Fertility and Sterility, Vol. 56, Núm. 5, pp. 874-880