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authFullName_s : Véronique Satre
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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 of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
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.
Human Molecular Genetics, 2005, 14 (11), pp.1441-8. ⟨10.1093/hmg/ddi153⟩
Journal articles inserm-00388677v1

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 of Clinical Immunology, 2012, 32 (5), pp.942-58. ⟨10.1007/s10875-012-9698-8⟩
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.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
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.
Human Reproduction, 2019, 96 (5), pp.394-401. ⟨10.1093/humrep/dez166⟩
Journal articles hal-02322935v1

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 of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
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.
International Journal of Molecular Sciences, 2023, 24 (3), pp.2559. ⟨10.3390/ijms24032559⟩
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 of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
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.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1

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.
BioResearch Open Access, 2014, 3 (6), pp.311-326. ⟨10.1089/biores.2014.0045⟩
Journal articles hal-02298997v1

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.
Clinical Genetics, 2018, 94 (6), pp.575-580. ⟨10.1111/cge.13449⟩
Journal articles hal-02350874v1

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.
Clin Chem Lab Med, 2012, pp.1-4. ⟨10.1515/cclm-2012-0416⟩
Journal articles hal-00807937v1

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.
European Journal of Human Genetics, 2013, epub ahead of print. ⟨10.1038/ejhg.2012.310⟩
Journal articles hal-00809492v1

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 of Clinical Immunology, 2012, 32 (4), pp.653-62. ⟨10.1007/s10875-012-9667-2⟩
Journal articles istex hal-00809498v1

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.
American Journal of Human Genetics, 2018, 102 (4), pp.636 - 648. ⟨10.1016/j.ajhg.2018.03.007⟩
Journal articles hal-01877985v1

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.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
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.
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Journal articles istex inserm-00639693v1

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Tristan Celse , Angèle Tingaud-Sequeira , Klaus Dieterich , Geraldine Siegfried , Cédric Lecaignec et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108678. ⟨10.1136/jmg-2022-108678⟩
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.
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Journal articles hal-03365264v1

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.
Human Reproduction, 2018, 33 (10), pp.1973 - 1984. ⟨10.1093/humrep/dey264⟩
Journal articles hal-01877993v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
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.
American Journal of Human Genetics, 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
Journal articles inserm-00588067v1

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.
PLoS Genetics, 2013, 9 (3), pp.e1003363. ⟨10.1371/journal.pgen.1003363⟩
Journal articles hal-00809646v1

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.
Human Reproduction, 2012, 27 (11), pp.3337-46. ⟨10.1093/humrep/des296⟩
Journal articles hal-00775889v1