Scientific publications

Publications

• 2017

  • Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.

    • Supawich Morkmued
    • Joseph Hemmerle
    • Eric Mathieu
    • Virginie Haushalter
    • Branka Dabovic
    • Daniel B Rifkin
    • Pascal Dolle
    • Karen Niederreither
    • Agnès Bloch-Zupan

    European journal of oral sciences ; Volume: 125 ; Page: 8-17

    HAL DOI

  • Etudes des mécanismes à l'origine de l'excès de garçons dans la déficience intellectuelle et les troubles du spectre autistique, Mechanisms involved in the male excess observed in intellectual disability and autism spectrum disorders

    • Angelique Quartier

    HAL

  • Roles of Retinoic Acid in Germ Cell Differentiation

    • Marius Teletin
    • Nadège Vernet
    • Norbert B Ghyselinck
    • Manuel Mark

    Current Topics in Developmental Biology

    HAL DOI

  • Synthesis and biological evaluation of phosphate isosters of fosmidomycin and analogs as inhibitors of Escherichia coli and Mycobacterium smegmatis 1-deoxyxylulose 5-phosphate reductoisomerases

    • Mathilde Munier
    • Denis Tritsch
    • Fanny Krebs
    • Jeremy Esque
    • Andrea Hemmerlin
    • Michel Rohmer
    • Roland H. Stote
    • Catherine Grosdemange-Billiard

    Bioorganic and Medicinal Chemistry Letters ; Volume: 25 ; Page: 684-689

    HAL DOI

  • Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    • Salima El Chehadeh
    • Wilhelmina Kerstjens-Frederikse
    • Julien Thevenon
    • Paul Kuentz
    • Ange-Line Bruel
    • Christel Thauvin-Robinet
    • Candace Bensignor
    • Hélène Dollfus
    • Vincent Laugel
    • Jean-Baptiste Rivière
    • Yannis Duffourd
    • Caroline Bonnet
    • Matthieu Robert
    • Rodica Isaiko
    • Morgane Straub
    • Catherine Creuzot-Garcher
    • Patrick Calvas
    • Nicolas Chassaing
    • Bart Loeys
    • Edwin Reyniers
    • ...

    European Journal of Human Genetics ; Volume: 25 ; Page: 43-51

    HAL DOI

  • Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

    • Chantal Sellier
    • Ronald Buijsen
    • Fang He
    • Sam Natla
    • Laura Jung
    • Philippe Tropel
    • Angeline Gaucherot
    • Hugues Jacobs
    • Hamid Meziane
    • Alexandre Vincent
    • Marie-France Champy
    • Tania Sorg
    • Guillaume Pavlovic
    • Marie Wattenhofer-Donze
    • Marie-Christine Birling
    • Mustapha Oulad-Abdelghani
    • Pascal Eberling
    • Frank Ruffenach
    • Mathilde Joint
    • Mathieu Anheim
    • ...

    Neuron ; Volume: 93 ; Page: 331-347

    HAL DOI

  • Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

    • Chantal Sellier
    • Ronald A.M. Buijsen
    • Fang He
    • Sam Natla
    • Laura Jung
    • Philippe Tropel
    • Angeline Gaucherot
    • Hugues Jacobs
    • Hamid Meziane
    • Alexandre Vincent
    • Marie-France Champy
    • Tania Sorg
    • Guillaume Pavlovic
    • Marie Wattenhofer-Donze
    • Marie-Christine Birling
    • Mustapha Oulad-Abdelghani
    • Pascal Eberling
    • Frank Ruffenach
    • Mathilde Joint
    • Mathieu Anheim
    • ...

    Neuron ; Volume: 93 ; Page: 331-347

    HAL DOI

  • WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

    • Matthieu Raess
    • Sylvie Friant
    • Belinda S. Cowling
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 63 ; Page: 49-58

    HAL DOI

  • A discriminative feature selection approach for shape analysis: application to fetal brain cortical folding study

    • J Pontabry
    • François Rousseau
    • C Studholme
    • M Koob
    • J.-L Dietemann

    Medical Image Analysis ; Volume: 35 ; Page: 313 - 326

    HAL DOI

  • Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

    • Jamal Ghoumid
    • Morgane Stichelbout
    • Anne-Sophie Jourdain
    • Frederic Frenois
    • Sophie Lejeune-Dumoulin
    • Marie-Pierre Alex-Cordier
    • Marine Lebrun
    • Pierre Guerreschi
    • Veronique Duquennoy-Martinot
    • Matthieu Vinchon
    • Joel Ferri
    • Matthieu Jung
    • Serge Vicaire
    • Clémence Vanlerberghe
    • Fabienne Escande
    • Florence Petit
    • Sylvie Manouvrier-Hanu

    Genetics in Medicine ; Volume: 19 ; Page: 1013-1021

    HAL DOI