Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-02347889v1
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Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player
Tristan Celse
,
Caroline Cazin
,
Flore Mietton
,
Guillaume Martinez
,
Delphine Martinez
et al.
Journal articles
hal-03025179v1
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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia.
Julie Beurois
,
Guillaume Martinez
,
Caroline Cazin
,
Zine-Eddine Kherraf
,
Amir Amiri-Yekta
et al.
Journal articles
hal-02322935v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
,
Michelle Morrow
,
Catherine Schramm
,
Francisca Millan Zamora
et al.
Journal articles
hal-03820933v1
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Oligogenic heterozygous inheritance of sperm abnormalities in mouse
Guillaume Martinez
,
Charles Coutton
,
Corinne Loeuillet
,
Caroline Cazin
,
Jana Muroňová
et al.
Journal articles
hal-03818177v1
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Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development
Sandra Yassine
,
Jessica Escoffier
,
Guillaume Martinez
,
Charles Coutton
,
Thomas Karaouzene
et al.
Journal articles
cea-01745397v1
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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella
Guillaume Martinez
,
Anne-Laure Barbotin
,
Caroline Cazin
,
Zeina Wehbe
,
Angèle Boursier
et al.
Journal articles
hal-04011973v1
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From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene
Zine-Eddine Kherraf
,
Caroline Cazin
,
Florence Lestrade
,
Jana Muronova
,
Charles Coutton
et al.
Journal articles
hal-03720221v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Journal articles
hal-02064139v1
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
,
Florence Riccardi
,
Aude Tessier
,
Rolph Pfundt
,
Tiffany Busa
et al.
Journal articles
istex
hal-01469066v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-01738521v1
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Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X 0 -Linked, AR22 0 - and AR47 0 - Chronic Granulomatous Diseases
Julie Brault
,
Erwan Goutagny
,
Narasimha Telugu
,
Kaifeng Shao
,
Mathurin Baquié
et al.
Journal articles
hal-02298997v1
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Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor.
Audrey Bouchet
,
Marie Bidart
,
Imen Miladi
,
Céline Le Clec'H
,
Raphaël Serduc
et al.
Journal articles
inserm-01077407v1
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Francesca Mattioli
,
Elise Schaefer
,
Alex Magee
,
Paul Mark
,
Grazia Mancini
et al.
Journal articles
hal-03679170v1
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series
Marion Lesieur-Sebellin
,
Marianne Till
,
Philippe Khau van Kien
,
Bérénice Herve
,
Nicolas Bourgon
et al.
Journal articles
hal-03481652v1
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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome
John Rendu
,
Rodrick Montjean
,
Charles Coutton
,
Mohnish Suri
,
Gaetan Chicanne
et al.
Journal articles
hal-03828357v1
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Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations
Zine‐eddine Kherraf
,
Caroline Cazin
,
Charles Coutton
,
Amir Amiri‐yekta
,
Guillaume Martinez
et al.
Journal articles
hal-02347512v1
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Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction
Graciane Petre
,
Patrick Lorès
,
Hervé Sartelet
,
Aurélie Truffot
,
Brice Poreau
et al.
Journal articles
hal-02350874v1
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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
Zine-Eddine Kherraf
,
Amir Amiri-Yekta
,
Denis Dacheux
,
Thomas Karaouzène
,
Charles Coutton
et al.
Journal articles
hal-01863586v1
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Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Cécile Martel
,
Michelle Mollin
,
Sylvain Beaumel
,
Jean Paul Brion
,
Charles Coutton
et al.
Journal articles
istex
hal-00809489v1
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Reprogramming glioma cell cultures with retinoic acid: Additional arguments for reappraising the potential of retinoic acid in the context of personalized glioma therapy
Matthieu Dreyfus
,
Michèle El-Atifi
,
Magali Court
,
Marie Bidart
,
Charles Coutton
et al.
Journal articles
inserm-01959941v1
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez
,
Julie Beurois
,
Denis Dacheux
,
Caroline Cazin
,
Marie Bidart
et al.
Journal articles
hal-03004959v1
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PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice
Marie Christou‐kent
,
Zine‐eddine Kherraf
,
Amir Amiri‐yekta
,
Emilie Le Blévec
,
Thomas Karaouzène
et al.
Journal articles
hal-01877992v1
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10q26 deletion syndrome: a French cohort study
Hugo Thorn
,
Sylvie Odent
,
Jonathan Levy
,
Anne-Claude Tabet
,
Julien Thevenon
et al.
54th European Society of Human Genetics (ESHG) Conference , Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324,
⟨10.1038/s41431-021-01026-1⟩
Conference papers
hal-03693284v1
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The genetic architecture of morphological abnormalities of the sperm tail
Aminata Touré
,
Guillaume Martinez
,
Zine-Eddine Kherraf
,
Caroline Cazin
,
Julie Beurois
et al.
Journal articles
hal-03004953v1
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Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Marie J Stasia
,
Michèle Mollin
,
Cécile Martel
,
Véronique Satre
,
Charles Coutton
et al.
Journal articles
hal-00809492v1
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Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.
Gwenaël Nadeau
,
Charles Coutton
,
Florence Amblard
,
Gabrielle Michalowicz
,
Sylvie Frasca
et al.
Journal articles
hal-00807937v1
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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Mariem Ben Khelifa
,
Charles Coutton
,
Raoudha Zouari
,
Thomas Karaouzène
,
John Rendu
et al.
Journal articles
pasteur-01061012v1
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Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
Marie José Stasia
,
Karin van Leeuwen
,
Martin de Boer
,
Cecile Martel
,
Michele Mollin
et al.
Journal articles
istex
hal-00809498v1
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MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Lise-Marie Donnio
,
Baptiste Bidon
,
Satoru Hashimoto
,
Melanie May
,
Alexey Epanchintsev
et al.
Journal articles
hal-03677802v1
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