Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (8)

2020

  1. Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Frontiers in Molecular Biosciences, Vol. 7

  2. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

2014

  1. Guía clínica de las enfermedades asociadas al gen FMR1: síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia

    Medicina Clinica, Vol. 142, Núm. 5, pp. 219-225

  2. Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

    BioMed Research International, Vol. 2014

2011

  1. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    European Journal of Human Genetics, Vol. 19, Núm. 8, pp. 921-923

2007

  1. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    BMC Genomics, Vol. 8

2006

  1. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation

    Clinical Genetics, Vol. 70, Núm. 2, pp. 140-144