Jocelyn LAPORTE

Publications

• 1998

  • 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

  • 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

  • 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

• 1997

  • 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

  • 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

  • A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1)

    • Petra Kioschis
    • Ute Rogner
    • Elke Pick
    • Sabine Klauck
    • Nina Heiss
    • Renate Siebenhaar
    • Bernhard Korn
    • Johannes Coy
    • Jocelyn Laporte
    • Sabina Liechti-Gallati
    • Annemarie Poustka

    Genomics ; Volume: 33 ; Page: 365-373

    HAL DOI

  • Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

    • Yvette de Kok
    • Erik Vossenaar
    • Cor Cremers
    • Niklas Dahl
    • Jocelyn Laporte
    • Ling Hu
    • Didier Lacombe
    • Nathan Fischel-Ghodsian
    • Rick Friedman
    • Lorne Parnes
    • Peter Thorpe
    • Maria Bitner-Glindzicz
    • Hans-Jürgen Pander
    • Helmut Heilbronner
    • Johanna Graveline
    • Johan den Dunnen
    • Han Brunner
    • Hans-Hilger Ropers
    • Frans Cremers

    Human Molecular Genetics ; Volume: 5 ; Page: 1229-1235

    HAL DOI

  • 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