Scientific publications

Publications

• 2006

  • Article in a journal

    Retinoic acid signalling is required for specification of pronephric cell fate.

    • Jérôme Cartry
    • Massimo Nichane
    • Vanessa Ribes
    • Alexandre Colas
    • Jean-Francois Riou
    • Tomas Pieler
    • Pascal Dollé
    • Eric J Bellefroid
    • Muriel Umbhauer

    Developmental Biology ; Volume: 299 ; Page: 35-51

    HAL DOI

  • Article in a journal

    A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

    • Valérie Tosch
    • Holger M Rohde
    • Hélène Tronchère
    • Edmar Zanoteli
    • Nancy Monroy
    • Christine Kretz
    • Nicolas Dondaine
    • Bernard Payrastre
    • Jean-Louis Mandel
    • Jocelyn Laporte

    Human Molecular Genetics ; Volume: 15 ; Page: 3098-106

    HAL DOI

  • Article in a journal

    The columnar gene vnd is required for tritocerebral neuromere formation during embryonic brain development of Drosophila.

    • Simon G Sprecher
    • Rolf Urbach
    • Gerhard M Technau
    • Filippo M Rijli
    • Heinrich Reichert
    • Frank Hirth

    Development (Cambridge, England) ; Volume: 133 ; Page: 4331-9

    HAL DOI

  • Article in a journal

    PGC1alpha expression is controlled in skeletal muscles by PPARbeta, whose ablation results in fiber-type switching, obesity, and type 2 diabetes.

    • Michael Schuler
    • Faisal Ali
    • Céline Chambon
    • Delphine Duteil
    • Jean-Marc Bornert
    • Aubry Tardivel
    • Béatrice Desvergne
    • Walter Wahli
    • Pierre Chambon
    • Daniel Metzger

    Cell Metabolism ; Volume: 4 ; Page: 407-14

    HAL DOI

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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

  • Article in a journal

    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