Scientific publications

Publications

• 2016

  • Article in a journal

    Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

    • Elise Schaefer
    • Corinne Stoetzel
    • Sophie Scheidecker
    • Véronique Geoffroy
    • Megana Prasad
    • Claire Redin
    • I Missotte
    • D Lacombe
    • Jean-Louis Mandel
    • Jean Muller
    • Helene Dollfus

    Journal of Human Genetics ; Volume: 61 ; Page: 447-450

    HAL DOI

  • Article in a journal

    Gbp2 interacts with THO/TREX through a novel type of RRM domain

    • Santiago Martínez-Lumbreras
    • Valério Taverniti
    • Silvia Zorrilla
    • Bertrand Séraphin
    • José Manuel Pérez-Cañadillas

    Nucleic Acids Research ; Volume: 44 ; Page: 437-448

    HAL DOI

  • Article in a journal

    Uncoiling collagen: a multidimensional mass spectrometry study

    • H. J. Simon
    • M. A. van Agthoven
    • P. Y. Lam
    • F. Floris
    • L. Chiron
    • Marc-André Delsuc
    • C. Rolando
    • M. P. Barrow
    • P. B. O'Connor

    Analyst ; Volume: 141 ; Page: 157-65

    HAL DOI

  • Article in a journal

    Functional Conservation of the Glide/Gcm Regulatory Network Controlling Glia, Hemocyte, and Tendon Cell Differentiation in Drosophila

    • Pierre Cattenoz
    • Anna Popkova
    • Tony Southall
    • Giuseppe Aiello
    • Andrea Brand
    • Angela Giangrande

    Genetics ; Volume: 202 ; Page: 191-219

    HAL DOI

  • Article in a journal

    Real‐time Recordings of Migrating Cortical Neurons from GFP and Cre Recombinase Expressing Mice

    • Sylvia Tielens
    • Juliette Godin
    • Laurent Nguyen

    Current Protocols in Neuroscience ; Volume: 74

    HAL DOI

  • Article in a journal

    Ubiquitin Receptor Protein UBASH3B Drives Aurora B Recruitment to Mitotic Microtubules

    • Ksenia Krupina
    • Charlotte Kleiss
    • Thibaud Metzger
    • Sadek Fournane
    • Stéphane Schmucker
    • Kay Hofmann
    • Benoit Fischer
    • Nicodème Paul
    • Iain Malcolm Porter
    • Wolfgang Raffelsberger
    • Olivier Poch
    • Jason Reese Swedlow
    • Laurent Brino
    • Izabela Sumara

    Developmental Cell ; Volume: 36 ; Page: 63-78

    HAL DOI

  • Article in a journal

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    • Megana K. Prasad
    • Véronique Geoffroy
    • Serge Vicaire
    • Bernard Jost
    • Michael Dumas
    • Stéphanie Le Gras
    • Marzena Switala
    • Barbara Gasse
    • Virginie Laugel-Haushalter
    • Marie Paschaki
    • Bruno Leheup
    • Dominique Droz
    • Amelie Dalstein
    • Adeline Loing
    • Bruno Grollemund
    • Michèle Muller-Bolla
    • Serena Lopez-Cazaux
    • Maryline Minoux
    • Sophie Jung
    • Frédéric Obry
    • ...

    Journal of Medical Genetics ; Volume: 53 ; Page: 98--110

    HAL DOI

  • Article in a journal

    Non-centrosomal epidermal microtubules act in parallel to LET-502/ROCK to promote C. elegans elongation

    • Sophie Quintin
    • Shahoe Wang
    • Julien Pontabry
    • Ambre Bender
    • Francois Robin
    • Vincent Hyenne
    • Frederic Landmann
    • Christelle Gally
    • Karen Oegema
    • Michel Labouesse

    Development (Cambridge, England) ; Volume: 143 ; Page: 160-173

    HAL DOI

  • Article in a journal

    Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

    • R. A. Buijsen
    • J. A. Visser
    • P. Kramer
    • E. A. Severijnen
    • M. Gearing
    • Nicolas Charlet-Berguerand
    • S. L. Sherman
    • R. F. Berman
    • R. Willemsen
    • R. K. Hukema

    Human Reproduction ; Volume: 31 ; Page: 158-68

    HAL DOI

  • Article in a journal

    Epigenetic ON/OFF Switches for Obesity

    • Carmelo Quarta
    • Robert Schneider
    • Matthias H. Tschöp

    Cell ; Volume: 164 ; Page: 341-342

    HAL DOI