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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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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Sandrine Caputo
,
Lisa Golmard
,
Mélanie Léone
,
Francesca Damiola
,
Marine Guillaud-Bataille
et al.
Journal articles
hal-03375857v1
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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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MALDI-TOF MS in a Medical Mycology Laboratory: On Stage and Backstage
Marie-Gladys Robert
,
Muriel Cornet
,
Aurélie Hennebique
,
Tahinamandranto Rasamoelina
,
Yvan Caspar
et al.
Journal articles
hal-03703127v1
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MALDI-TOF MS in a Medical Mycology Laboratory: On Stage and Backstage
Marie-Gladys Robert
,
Muriel Cornet
,
Aurélie Hennebique
,
Tahinamandranto Rasamoelina
,
Yvan Caspar
et al.
Journal articles
hal-03419699v1
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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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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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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing
Fabienne Lesueur
,
Séverine Eon-Marchais
,
Sarah Bonnet-Boissinot
,
Juana Beauvallet
,
Marie-Gabrielle Dondon
et al.
Journal articles
hal-03345372v1
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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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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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MALDI-TOF mass spectrometry for rapid diagnosis of postoperative endophthalmitis
Adriane Mailhac
,
Harmonie Durand
,
Sandrine Boisset
,
Danièle Maubon
,
Francois Berger
et al.
Journal articles
hal-03839732v1
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An In-House Assay Is Superior to Sepsityper for Direct Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry Identification of Yeast Species in Blood Cultures
Marie Bidart
,
Isabelle Bonnet
,
Aurélie Hennebique
,
Zine Eddine Kherraf
,
Hervé Pelloux
et al.
Journal articles
hal-03034336v1
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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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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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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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Digital PCR for Detection and Quantification of Fluoroquinolone Resistance in Legionella pneumophila
Aurélie Hennebique
,
Marie Bidart
,
Sophie Jarraud
,
Laëtitia Beraud
,
Carole Schwebel
et al.
Journal articles
hal-03034291v1
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