Scientific publications

Publications

• 2017

  • Article in a journal

    DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    • Ashley Marsh
    • Timothy Edwards
    • Charles Galea
    • Helen Cooper
    • Elizabeth Engle
    • Saumya Jamuar
    • Aurélie Méneret
    • Marie-Laure Moutard
    • Caroline Nava
    • Agnès Rastetter
    • Gail Robinson
    • Guy Rouleau
    • Emmanuel Roze
    • Megan Spencer-Smith
    • Oriane Trouillard
    • Thierry Billette de Villemeur
    • Christopher Walsh
    • Timothy Yu
    • Delphine Heron
    • Elliott Sherr
    • ...

    Human Mutation ; Volume: 39 ; Page: 23-39

    HAL DOI

  • Article in a journal

    Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

    • Benjamin Helm
    • Jason Willer
    • Azita Sadeghpour
    • Christelle Golzio
    • Eric Crouch
    • Samantha Schrier Vergano
    • Nicholas Katsanis
    • Erica Davis

    Human Genomics ; Volume: 11

    HAL DOI

  • Article in a journal

    Meningeal retinoic acid contributes to neocortical lamination and radial migration during mouse brain development

    • Carole Haushalter
    • Brigitte Schuhbaur
    • Pascal Dolle
    • Muriel Rhinn

    Biology Open ; Volume: 6 ; Page: 148-160

    HAL DOI

  • Article in a journal

    Medical treatment of mammary desmoid-type fibromatosis: which benefit?

    • Louise Scheer
    • Massimo Lodi
    • Sébastien Molière
    • Jean-Emmanuel Kurtz
    • Carole Mathelin

    World Journal of Surgical Oncology ; Volume: 15

    HAL DOI

  • Article in a journal

    Peculiar clinical presentation of Coxsackievirus B4 infection: neonatal restrictive cardiomyopathy.

    • Pauline Le van Quyen
    • Philippe Desprez
    • Angelo Livolsi
    • Veronique Lindner
    • Samira Fafi-Kremer
    • Pauline Helms
    • Maria Antal

    AJP - Endocrinology and Metabolism

    HAL DOI

  • Article in a journal

    Modeling human disease in rodents by CRISPR/Cas9 genome editing

    • Marie-Christine Birling
    • Yann Herault
    • Guillaume Pavlovic

    Mammalian Genome ; Volume: 28 ; Page: 291-301

    HAL DOI

  • Article in a journal

    NMR assignments of the N-terminal domain of Staphylococcus aureus hibernation promoting factor (SaHPF)

    • Konstantin Usachev
    • Rustam Ayupov
    • Shamil Validov
    • Iskander Khusainov
    • Marat Yusupov

    Biomolecular NMR Assignments ; Volume: 12 ; Page: 85-89

    HAL DOI

  • Article in a journal

    MITF-high and MITF-low cells and a novel subpopulation expressing genes of both cell states contribute to intra and inter-tumoral heterogeneity of primary melanoma

    • Marie Ennen
    • Céline Keime
    • Giovanni Gambi
    • Alice Kieny
    • Sebastien Coassolo
    • Christelle Thibault-Carpentier
    • Fanny Margerin-Schaller
    • Guillaume Davidson
    • Constance Vagne
    • Dan Lipsker
    • Irwin Davidson

    Clinical Cancer Research

    HAL DOI

  • Article in a journal

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

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

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

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  • Article in a journal

    Oncological safety of nipple-sparing prophylactic mastectomy: A review of the literature on 3716 cases

    • Tina Müller
    • Alexandre Baratte
    • Catherine Bruant-Rodier
    • Frédéric Bodin
    • Carole Mathelin

    Annales de Chirurgie Plastisque Esthétique ; Volume: 63 ; Page: 6-13

    HAL DOI