Publications scientifiques

Publications

• 2006

  • Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

    • Virginie Laurier
    • Corinne Stoetzel
    • Jean Muller
    • Christelle Thibault
    • Sandra Corbani
    • Nadine Jalkh
    • Nabiha Salem
    • Eliane Chouery
    • Olivier Poch
    • Serge Licaire
    • Jean-Marc Danse
    • Patricia Amati-Bonneau
    • Dominique Bonneau
    • André Mégarbané
    • Jean-Louis Mandel
    • Hélène Dollfus

    European Journal of Human Genetics ; Volume: 14 ; Page: 1195-203

    HAL DOI

  • Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

    • Hélène Dollfus
    • Jean Muller
    • Corinne Stoetzel
    • Virginie Laurier
    • Dominique Bonneau
    • André Mégarbané
    • Olivier Poch
    • Jean-Louis Mandel

    Médecine/Sciences ; Volume: 22 ; Page: 901-4

    HAL

  • Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.

    • Céline Moutou
    • Nadejda Machev
    • Nathalie Gardes
    • Stéphane Viville

    Prenatal Diagnosis ; Volume: 26 ; Page: 1037-41

    HAL DOI

  • Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur ( BBS10 )

    • Hélène Dollfus
    • Jean Muller
    • Corinne Stoetzel
    • Virginie Laurier
    • Dominique Bonneau
    • André Mégarbané
    • Olivier Poch
    • Jean-Louis Mandel

    Médecine/Sciences ; Volume: 22 ; Page: 901-904

    HAL DOI

  • Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.

    • Paul Laissue
    • Silvia Copelli
    • Ignacio Bergada
    • Cesar Bergada
    • Gabriel Barrio
    • Sinan Karaboga
    • Jean Marie Wurtz
    • Marc Fellous
    • Enzo Lalli
    • Reiner A Veitia

    Clinical Endocrinology ; Volume: 65 ; Page: 681-6

    HAL DOI

  • Capturing protein–protein complexes at equilibrium: The holdup comparative chromatographic retention assay

    • Sebastian Charbonnier
    • Katia Zanier
    • Murielle Masson
    • Gilles Travé

    Protein Expression and Purification ; Volume: 50 ; Page: 89-101

    HAL DOI

  • Noggin1 and Follistatin-like2 function redundantly to Chordin to antagonize BMP activity.

    • Sophie Dal-Pra
    • Maximilian Fürthauer
    • Jeanne Van-Celst
    • Bernard Thisse
    • Christine Thisse

    Developmental Biology ; Volume: 298 ; Page: 514-26

    HAL DOI

  • Mu opioid receptor-effector coupling and trafficking in dorsal root ganglia neurons.

    • W. M. Walwyn
    • W. Wei
    • C.-W. Xie
    • K. Chiu
    • B. L. Kieffer
    • C. J. Evans
    • N. T. Maidment

    Neuroscience ; Volume: 142 ; Page: 493-503

    HAL DOI

  • Poly(ADP-ribose) polymerase-2 contributes to the fidelity of male meiosis I and spermiogenesis.

    • Françoise Dantzer
    • Manuel Mark
    • Delphine Quenet
    • Harry Scherthan
    • Aline Huber
    • Bodo Liebe
    • Lucia Monaco
    • Alexandra Chicheportiche
    • Paolo Sassone-Corsi
    • Gilbert de Murcia
    • Josiane Ménissier-de Murcia

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 103 ; Page: 14854-9

    HAL DOI

  • A novel endothelial-specific heat shock protein HspA12B is required in both zebrafish development and endothelial functions in vitro.

    • Guang Hu
    • Jian Tang
    • Bo Zhang
    • Yanfeng Lin
    • Jun-Ichi Hanai
    • Jenna Galloway
    • Victoria Bedell
    • Nathan Bahary
    • Zhihua Han
    • Ramani Ramchandran
    • Bernard Thisse
    • Christine Thisse
    • Leonard I Zon
    • Vikas P Sukhatme

    Journal of Cell Science ; Volume: 119 ; Page: 4117-26

    HAL DOI