Jocelyn LAPORTE

Publications

• 2000

  • Article in a journal

    MTM1 mutations in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Valérie Biancalana
    • Stephan Tanner
    • Wolfram Kress
    • Vreni Schneider
    • Carina Wallgren-Pettersson
    • Franziska Herger
    • Anna Buj-Bello
    • François Blondeau
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    Human Mutation ; Volume: 15 ; Page: 393-409

    HAL DOI

• 1999

  • Article in a journal

    Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

    • Anna Buj-Bello
    • Valérie Biancalana
    • Céline Moutou
    • Jocelyn Laporte
    • Jean-Louis Mandel

    Human Mutation ; Volume: 14 ; Page: 320-325

    HAL DOI

  • Article in a journal

    Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA

    • Xiuqing Zhang
    • Huanming Yang
    • Morten J. Corydon
    • Xiaoxiao Zhang
    • Soren Pedersen
    • Julie R. Korenberg
    • Xiao-Ning Chen
    • Jocelyn Laporte
    • Niels Gregersen
    • Erik Niebuhr
    • Guoyang Liu
    • Lars Bolund

    Genomics ; Volume: 57 ; Page: 144-151

    HAL DOI

• 1998

  • Article in a journal

    Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human

    • Jocelyn Laporte
    • François Blondeau
    • Anna Buj-Bello
    • Dmitry Tentler
    • Christine Kretz
    • Niklas Dahl
    • Jean-Louis Mandel

    Human Molecular Genetics ; Volume: 7 ; Page: 1703-1712

    HAL DOI

  • Article in a journal

    Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

    • M. C. Vincent
    • C. Guiraud-Chaumeil
    • Jocelyn Laporte
    • S. Manouvrier-Hanu
    • Jean-Louis Mandel

    Journal of Medical Genetics ; Volume: 35 ; Page: 241-243

    HAL DOI

  • Article in a journal

    Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

    • Stephan M. Tanner
    • Jocelyn Laporte
    • Chrsitophe Guiraud-Chaumeil
    • Sabina Liechti-Gallati

    Human Mutation ; Volume: 11 ; Page: 62-68

    HAL DOI

  • Article in a journal

    Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

    • Jocelyn Laporte
    • Christophe Guiraud-Chaumeil
    • Stephan M. Tanner
    • François Blondeau
    • Ling-Jia Hu
    • Sabrina Vicaire
    • Sabina Liechti-Gallati
    • Jean-Louis Mandel

    European Journal of Human Genetics ; Volume: 6 ; Page: 325-330

    HAL DOI

• 1997

  • Article in a journal

    Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy

    • Jocelyn Laporte
    • Petra Kioschis
    • Ling-Jia Hu
    • Christine Kretz
    • Birgit Carlsson
    • Annemarie Poustka
    • Jean-Louis Mandel
    • Niklas Dahl

    Genomics ; Volume: 41 ; Page: 458-462

    HAL DOI

  • Article in a journal

    Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

    • Beatrice de Gouyon
    • Wei Zhao
    • Jocelyn Laporte
    • Jean-Louis Mandel
    • Aida Metzenberg
    • Gail Herman

    Human Molecular Genetics ; Volume: 6 ; Page: 1499-1504

    HAL DOI

• 1996

  • Article in a journal

    Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region

    • Ling Hu
    • Jocelyn Laporte
    • Wolfram Kress
    • Petra Kioschis
    • Renate Siebenhaar
    • Annemarie Poustka
    • Michel Fardeau
    • Aida Metzenberg
    • Emiel Janssen
    • Nick Thomas
    • Jean-Louis Mandel
    • Niklas Dahl

    Human Molecular Genetics ; Volume: 5 ; Page: 139-143

    HAL DOI