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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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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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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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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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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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Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review
Sophie Brouillet
,
Guillaume Martinez
,
Charles Coutton
,
Samir Hamamah
Journal articles
hal-03490312v1
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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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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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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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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 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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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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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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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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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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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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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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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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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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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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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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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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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont
,
Alexandre Reymond
,
Flore Zufferey
,
Louise Harewood
,
Robin G. Walters
et al.
Journal articles
inserm-00619240v1
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A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl Syndrome
Patrick Lorès
,
Zine-Eddine Kherraf
,
Amir Amiri-Yekta
,
Marjorie Whitfield
,
Abbas Daneshipour
et al.
Journal articles
hal-03369854v1
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Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa
Caroline Cazin
,
Yasmine Boumerdassi
,
Guillaume Martinez
,
Selima Fourati Ben Mustapha
,
Marjorie Whitfield
et al.
Journal articles
hal-03365058v1
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Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum
Jean-Fabrice Nsota Mbango
,
Charles Coutton
,
Christophe Arnoult
,
Pierre Ray
,
Aminata Touré
et al.
Journal articles
hal-02350815v1
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From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Haifa Hichri
,
John Rendu
,
Nicole Monnier
,
Charles Coutton
,
Olivier Dorseuil
et al.
Journal articles
istex
inserm-00639693v1
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
Tristan Celse
,
Angèle Tingaud-Sequeira
,
Klaus Dieterich
,
Geraldine Siegfried
,
Cédric Lecaignec
et al.
Journal articles
hal-03996847v1
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Prokineticin 1 is a new biomarker of human oocyte competence: expression and hormonal regulation throughout late folliculogenesis
Nadia Alfaidy
,
Chloé Baron
,
Yannick Antoine
,
Déborah Reynaud
,
Wael Traboulsi
et al.
Journal articles
hal-02353787v1
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