Valérie BIANCALANA

Publications

• 1999

  • 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

  • Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues

    • Cendra Agulhon
    • Patricia Blanchet
    • Alexandra Kobetz
    • Dominique Marchant
    • Nicole Faucon
    • Pierre Sarda
    • Claude Moraine
    • Annie Sittler
    • Valérie Biancalana
    • Alain Malafosse
    • Marc Abitbol

    Journal of Neuropathology and Experimental Neurology ; Volume: 58 ; Page: 867-880

    HAL DOI

• 1996

  • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

    • D Rubinsztein
    • J Leggo
    • R Coles
    • E Almqvist
    • V Biancalana
    • J Cassiman
    • K Chotai
    • M Connarty
    • D Crauford
    • A Curtis
    • D Curtis
    • M Davidson
    • A Differ
    • C Dode
    • A Dodge
    • M Frontali
    • N Ranen
    • O Stine
    • M Sherr
    • M Abbott
    • ...

    American Journal of Human Genetics ; Volume: 59 ; Page: 16-22

    HAL

  • Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males

    • Valérie Biancalana
    • L Taine
    • J Bouix
    • S Finck
    • A Chauvin
    • H de Verneuil
    • S Knight
    • C Stoll
    • D Lacombe
    • Jean-Louis Mandel

    American Journal of Human Genetics ; Volume: 59 ; Page: 847-854

    HAL

• 1995

  • Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26

    • N Dahl
    • J Laporte
    • L Hu
    • Valérie Biancalana
    • D Le Palier
    • D Cohen
    • C Piussan
    • Jean-Louis Mandel

    American Journal of Human Genetics ; Volume: 56 ; Page: 999-1002

    HAL

  • X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21

    • C Piussan
    • André Hanauer
    • N Dahl
    • M Mathieu
    • C Kolski
    • Valérie Biancalana
    • S Heyberger
    • V Strunski

    American Journal of Human Genetics ; Volume: 56 ; Page: 224-230

    HAL