Scientific publications

Publications

• 2010

  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    • Jean Muller
    • Corinne Stoetzel
    • Marie-Claire Vincent
    • Carmen C Leitch
    • Virginie Laurier
    • Jean Marc Danse
    • S. Hellé
    • Vincent Marion
    • V. Bennouna-Greene
    • Serge Vicaire
    • André Mégarbané
    • Josseline Kaplan
    • Valérie Drouin-Garraud
    • M. Hamdani
    • Sabine Sigaudy
    • Christine Francannet
    • Joëlle Roume
    • P. Bitoun
    • Alice Goldenberg
    • Nicole Philip
    • ...

    Human Genetics ; Volume: 127 ; Page: 583-93

    HAL DOI

  • Visualization of multiple alignments, phylogenies and gene family evolution.

    • James B Procter
    • Julie D. Thompson
    • Ivica Letunic
    • Chris Creevey
    • Fabrice Jossinet
    • Geoffrey J Barton

    Nature Methods ; Volume: 7 ; Page: S16-25

    HAL DOI

  • Poly(l-lysine) nanostructured particles for gene delivery and hormone stimulation

    • Xin Zhang
    • Mustapha Oulad-Abdelghani
    • Alexander Zelkin
    • Yajun Wang
    • Youssef Haîkel
    • Didier Mainard
    • Jean-Claude Voegel
    • Frank Caruso
    • Nadia Benkirane-Jessel

    Biomaterials ; Volume: 31 ; Page: 1699-1706

    HAL DOI

  • Divergent roles of prokineticin receptors in the endothelial cells: angiogenesis and fenestration

    • Célia Guilini
    • Kyoji Urayama
    • Gulen Turkeri
    • Deniz B. Dedeoglu
    • Hitoshi Kurose
    • Nadia Messaddeq
    • Canan G Nebigil

    AJP - Heart and Circulatory Physiology ; Volume: 298 ; Page: H844-H852

    HAL DOI

  • Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

    • Chantal Sellier
    • Frédérique Rau
    • Yilei Liu
    • Flora Tassone
    • Renate Hukema
    • Renata Gattoni
    • Anne Schneider
    • Stéphane Richard
    • Rob Willemsen
    • David Elliott
    • Paul Hagerman
    • Nicolas Charlet-Berguerand

    EMBO Journal ; Volume: 29 ; Page: 1248-1261

    HAL DOI

  • CRT-1/calreticulin and the E3 ligase EEL-1/HUWE1 control hemidesmosome maturation in C. elegans development.

    • Hala Zahreddine
    • Huimin Zhang
    • Marie Diogon
    • Yasuko Nagamatsu
    • Michel Labouesse

    Current Biology ; Volume: 20 ; Page: 322-7

    HAL DOI

  • Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

    • Verity Mcclelland
    • Thomas Cullup
    • Istvan Bodi
    • Deborah Ruddy
    • Anna Buj-Bello
    • Valerie Biancalana
    • J. Boehm
    • Marc Bitoun
    • Owen Miller
    • Wajanat Jan
    • Esse Menson
    • Luis Amaya
    • John Trounce
    • Jocelyn Laporte
    • Shehla Mohammed
    • Caroline Sewry
    • Julian Raiman
    • Heinz Jungbluth

    American Journal of Medical Genetics Part A ; Volume: 152A ; Page: 741-747

    HAL DOI

  • Holoprosencephaly: An update on cytogenetic abnormalities.

    • Claude Bendavid
    • Valérie Dupé
    • Lucie Rochard
    • Isabelle Gicquel
    • Christèle Dubourg
    • Véronique David

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; Volume: 154C ; Page: 86-92

    HAL DOI

  • Murine neonatal infection provides an efficient model for congenital ocular toxoplasmosis

    • Ibtissem Lahmar
    • Marie Guinard
    • Arnaud Sauer
    • Luc Marcellin
    • Tamer Abdelrahman
    • Michel Roux
    • Marc Mousli
    • Adnan Moussa
    • Hamouda Babba
    • Alexander Pfaff
    • Ermanno Candolfi

    Experimental Parasitology ; Volume: 124 ; Page: 190-196

    HAL DOI

  • Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

    • Vincent Laugel
    • Cécile Dalloz
    • M. Durand
    • Florence Sauvanaud
    • Hans-Ulrik Kristensen
    • Marie-Claire Vincent
    • Laurent Pasquier
    • Sylvie Odent
    • Valérie Cormier-Daire
    • Blanca Gener
    • Edward Spencer Tobias
    • John Lorimer Tolmie
    • Dominique Martin-Coignard
    • Valérie Drouin-Garraud
    • Delphine Heron
    • Hubert Journel
    • Emmanuel Raffo
    • Jaqueline Vigneron
    • Stanislas Lyonnet
    • Victoria Alice Murday
    • ...

    Human Mutation ; Volume: 31 ; Page: 113-26

    HAL DOI