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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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Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.
Adèle Faucherre
,
Pierrette Desbois
,
Fumiko Nagano
,
Véronique Satre
,
Joël Lunardi
et al.
Journal articles
inserm-00388677v1
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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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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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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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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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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
Pascale Kleinfinger
,
Laurence Lohmann
,
Armelle Luscan
,
Detlef Trost
,
Laurent Bidat
et al.
Journal articles
hal-02940475v1
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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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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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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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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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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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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
Frederick Dong
,
Amir Amiri-Yekta
,
Guillaume Martinez
,
Antoine Saut
,
Julie Tek
et al.
Journal articles
hal-01877985v1
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FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection
Guillaume Martinez
,
Pierre Gillois
,
Marine Le Mitouard
,
Rémy Borye
,
Camille Esquerré-Lamare
et al.
Basic and clinical andrology, 2013, 23 (1), pp.13
Journal articles
hal-02007706v1
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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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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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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse
Qunshan Shen
,
Guillaume Martinez
,
Hongbin Liu
,
Julie Beurois
,
Huan Wu
et al.
Journal articles
hal-03365264v1
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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
Guillaume Martinez
,
Zine-Eddine Kherraf
,
Raoudha Zouari
,
Selima Fourati Ben Mustapha
,
Antoine Saut
et al.
Journal articles
hal-01877993v1
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Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies
Caroline Bosson
,
Françoise Devillard
,
Véronique Satre
,
Klaus Dieterich
,
Pierre Ray
et al.
Journal articles
istex
hal-01980733v1
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A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Radu Harbuz
,
Raoudha Zouari
,
Virginie Pierre
,
Mariem Ben Khelifa
,
Mahmoud Kharouf
et al.
Journal articles
inserm-00588067v1
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Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population.
Charles Coutton
,
Farid Abada
,
Thomas Karaouzene
,
Damien Sanlaville
,
Véronique Satre
et al.
Journal articles
hal-00809646v1
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Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia.
Mariem Ben Khelifa
,
Charles Coutton
,
Michael G B Blum
,
Farid Abada
,
Radu Harbuz
et al.
Journal articles
hal-00775889v1
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