Scientific publications

Publications

• 2003

  • Structure of human aldose reductase holoenzyme in complex with statil: an approach to structure-based inhibitor design of the enzyme

    • Ossama El-Kabbani
    • Paul Ramsland
    • Connie Darmanin
    • Roland P.-T. Chung
    • Alberto Podjarny

    Proteins ; Volume: 50 ; Page: 230-238

    HAL DOI

  • Sexy splicing: regulatory interplays governing sex determination from <i>Drosophila</i> to mammals

    • Enzo Lalli
    • Kenji Ohe
    • Elisa Latorre
    • Marco Bianchi
    • Paolo Sassone-Corsi

    Journal of Cell Science ; Volume: 116 ; Page: 441-445

    HAL DOI

  • Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

    • Sarah L. Nolin
    • W. Ted Brown
    • Anne Glicksman
    • George E. Houck
    • Alice D. Gargano
    • Amy Sullivan
    • Valérie Biancalana
    • Karen Bröndum-Nielsen
    • Helle Hjalgrim
    • Elke Holinski-Feder
    • Frank Kooy
    • John Longshore
    • James Macpherson
    • Jean-Louis Mandel
    • Gert Matthijs
    • François Rousseau
    • Peter Steinbach
    • Marja-Leena Väisänen
    • Harriet von Koskull
    • Stephanie L. Sherman

    American Journal of Human Genetics ; Volume: 72 ; Page: 454-464

    HAL DOI

  • Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

    • Valérie Biancalana
    • Olivier Caron
    • Sabina Gallati
    • Frank Baas
    • Wolfram Kress
    • Giuseppe Novelli
    • Maria Rosaria d'Apice
    • Clotilde Lagier-Tourenne
    • Anna Buj-Bello
    • Norma B. Romero
    • Jean-Louis Mandel

    Human Genetics ; Volume: 112 ; Page: 135-142

    HAL DOI

  • A Functional Polymorphism in a STAT5B Site of the Human PPARγ3 Gene Promoter Affects Height and Lipid Metabolism in a French Population

    • Aline Meirhaeghe
    • Lluis Fajas
    • Fabrice Gouilleux
    • Dominique Cottel
    • Nicole Helbecque
    • Johan Auwerx
    • Philippe Amouyel

    Arteriosclerosis, Thrombosis, and Vascular Biology ; Volume: 23 ; Page: 289-294

    HAL DOI

  • Multiple regulatory elements with spatially and temporally distinct activities control neurogenin1 expression in primary neurons of the zebrafish embryo

    • Patrick Blader
    • Charles Plessy
    • Uwe Strähle

    Mechanisms of Development ; Volume: 120 ; Page: 211-218

    HAL DOI

  • Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

    • Valérie Biancalana
    • Olivier Caron
    • Sabina Gallati
    • Frank Baas
    • Wolfram Kress
    • Giuseppe Novelli
    • Maria d'Apice
    • Clotilde Lagier-Tourenne
    • Anna Buj-Bello
    • Norma Romero
    • Jean-Louis Mandel

    Human Genetics ; Volume: 112 ; Page: 135-142

    HAL DOI

  • Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

    • Hélène Dollfus
    • C. Stoetzel
    • S. Riehm
    • W. Lahlou Boukoffa
    • F. Bediard Boulaneb
    • R. Quillet
    • M. Abu-Eid
    • C. Speeg-Schatz
    • J. J. Francfort
    • J. Flament
    • F. Veillon
    • F. Perrin-Schmitt

    Clinical Genetics ; Volume: 63 ; Page: 117-120

    HAL DOI

  • Novel subunits of the TATA binding protein free TAFII-containing transcription complex identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry following one-dimensional gel electrophoresis

    • Nükhet Cavusoglu
    • Marjorie Brand
    • Laszlo Tora
    • Alain van Dorsselaer

    Proteomics ; Volume: 3 ; Page: 217-223

    HAL DOI

  • Knockout mice as model systems for studying nm23/NDP kinase gene functions. Application to the nm23-M1 gene

    • S. Arnaud-Dabernat
    • P. M. Bourbon
    • Andrée Dierich
    • Marianne Le Meur
    • Jean Yves Daniel

    Journal of Bioenergetics and Biomembranes ; Volume: 35 ; Page: 19-30

    HAL DOI