Publications

• 2015

  • Article in a journal

    Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations

    • Yann Herenger
    • Corinne Stoetzel
    • Elise Schaefer
    • Sophie Scheidecker
    • Marie Cecile Maniere
    • Valérie Pelletier
    • Yves Alembik
    • Dominique Christmann
    • Andre Clavert
    • Joelle Terzic
    • Michel Fischbach
    • Anne de Saint Martin
    • Hélène Dollfus

    Eur J Med Genet ; Volume: 58 ; Page: 479-487

    HALDOI

  • Article in a journal

    Ikaros mediates gene silencing in T cells through Polycomb repressive complex 2

    • Attila Oravecz
    • Apostol Apostolov
    • Katarzyna Polak
    • Bernard Jost
    • Stéphanie Le Gras
    • Susan Chan
    • Philippe Kastner

    Nature Communications ; Volume: 6

    HALDOI

  • Article in a journal

    Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

    • Aline Dubos
    • Anna Castells-Nobau
    • Hamid Meziane
    • Merel A.W. Oortveld
    • Xander Houbaert
    • Giovanni Iacono
    • Christelle Martin
    • Christophe Mittelhaeuser
    • Valérie Lalanne
    • Jamie M. Kramer
    • Anuradha Bhukel
    • Christine Quentin
    • Jan Slabbert
    • Patrik Verstreken
    • Stefan J. Sigrist
    • Nadia Messaddeq
    • Marie-Christine Birling
    • Mohammed Selloum
    • Henk G. Stunnenberg
    • Yann Humeau
    • ...

    Human Molecular Genetics ; Volume: 24 ; Page: 6736--6755

    HALDOI

  • Article in a journal

    Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

    • Valérie Biancalana
    • Jocelyn Laporte

    Journal of Neuromuscular Diseases ; Volume: 2 ; Page: 193-203

    HALDOI

  • Article in a journal

    Sequence-structure relationship study in all-alpha transmembrane proteins using an unsupervised learning approach

    • Jérémy Esque
    • Aurelie A. Urbain
    • Catherine Etchebest
    • Alexandre G. de Brevern

    Amino Acids ; Volume: 47 ; Page: 2303 - 2322

    HALDOI

  • Article in a journal

    Differentiating Fragmentation Pathways of Cholesterol by Two-Dimensional Fourier Transform Ion Cyclotron Resonance Mass Spectrometry

    • Maria A. van Agthoven
    • Mark P. Barrow
    • Lionel Chiron
    • Marie-Aude Coutouly
    • David Kilgour
    • Christopher A. Wootton
    • Juan Wei
    • Andrew Soulby
    • Marc-André Delsuc
    • Christian Rolando
    • Peter B. O'Connor

    Journal of The American Society for Mass Spectrometry ; Volume: 26 ; Page: 2105-2114

    HALDOI

  • Article in a journal

    TAF10 Interacts with the GATA1 Transcription Factor and Controls Mouse Erythropoiesis

    • Petros Papadopoulos
    • Laura Gutiérrez
    • Jeroen Demmers
    • Elisabeth Scheer
    • Farzin Pourfarzad
    • Dimitris Papageorgiou
    • Elena Karkoulia
    • John Strouboulis
    • Harmen van de Werken
    • Reinier van Der Linden
    • Peter Vandenberghe
    • Dick Dekkers
    • Sjaak Philipsen
    • Frank Grosveld
    • Làszlò Tora

    Molecular and Cellular Biology ; Volume: 35 ; Page: 2103-2118

    HALDOI

  • Article in a journal

    Retinoic acid signaling and mouse embryonic stem cell differentiation: Cross talk between genomic and non-genomic effects of RA

    • Cécile Rochette-Egly

    BBA - Biochimica et Biophysica Acta ; Volume: 1851 ; Page: 66-75

    HALDOI

  • Article in a journal

    Crystal Structure of the Rad3/XPD Regulatory Domain of Ssl1/p44

    • Jin Seok Kim
    • Charlotte Saint-André
    • Hye Seong Lim
    • Cheol-Sang Hwang
    • Jean Marc Egly
    • Yunje Cho

    Journal of Biological Chemistry ; Volume: 290 ; Page: 8321--8330

    HALDOI

  • Article in a journal

    Alström Syndrome: Mutation Spectrum of ALMS1

    • Jan D. Marshall
    • Jean Muller
    • Gayle B. Collin
    • Gabriella Milan
    • Stephen F. Kingsmore
    • Darrell Dinwiddie
    • Emily G. Farrow
    • Neil A. Miller
    • Francesca Favaretto
    • Pietro Maffei
    • Hélène Dollfus
    • Roberto Vettor
    • Jürgen K. Naggert

    Human Mutation ; Volume: 36 ; Page: 660--668

    HALDOI