Publications (10) Publications in which a researcher has participated

filter_list Genetics, Medical

2018

  1. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

    Scientific Reports, Vol. 8, Núm. 1

2013

  1. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    European Journal of Human Genetics, Vol. 21, Núm. 2, pp. 162-172

2012

  1. The hMSH2(M688R) lynch syndrome mutation may function as a dominant negative

    Carcinogenesis, Vol. 33, Núm. 9, pp. 1647-1654

2009

  1. Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene

    Human Mutation, Vol. 30, Núm. 6, pp. 910-917

2002

  1. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

    Journal of Immunology, Vol. 168, Núm. 12, pp. 6323-6329

  2. A missense mutation in Tbce causes progressive motor neuronopathy in mice

    Nature Genetics, Vol. 32, Núm. 3, pp. 443-447

1999

  1. Mouse p73 gene maps to the distal part of chromosome 4 and might be involved in the progression of γ-radiation-induced T-cell lymphomas

    Cancer Research, Vol. 59, Núm. 9, pp. 2068-2071

1997

  1. The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions

    Mammalian Genome, Vol. 8, Núm. 10, pp. 756-759

1996

  1. Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments

    Human Genetics, Vol. 97, Núm. 5, pp. 604-610

  2. High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region

    Nature Genetics, Vol. 13, Núm. 1, pp. 78-82