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Author: personID (integer) : 803646

The genetic architecture of morphological abnormalities of the sperm tail

Aminata Touré , Guillaume Martinez , Zine-Eddine Kherraf , Caroline Cazin , Julie Beurois et al.
Human Genetics, 2020, ⟨10.1007/s00439-020-02113-x⟩
Journal articles hal-03004953v1

Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

Marie Christou-Kent , Magali Dhellemmes , Emeline Lambert , Pierre Ray , Christophe Arnoult et al.
Cells, 2020, 9 (3), pp.662. ⟨10.3390/cells9030662⟩
Journal articles hal-03005093v1

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

Chunyu Liu , Haruhiko Miyata , Yang Gao , Yanwei Sha , Shuyan Tang et al.
American Journal of Human Genetics, 2020, 107 (2), pp.330-341. ⟨10.1016/j.ajhg.2020.06.004⟩
Journal articles hal-03004971v1
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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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Paternal epigenetics: Mammalian sperm provide much more than DNA at fertilization

Emilie Le Blévec , Jana Muroňová , Pierre Ray , Christophe Arnoult
Molecular and Cellular Endocrinology, 2020, 518, pp.110964. ⟨10.1016/j.mce.2020.110964⟩
Journal articles hal-03005088v1

Deep learning framework applied to optical diffraction tomography (ODT)

William Pierré , Lionel Hervé , Cédric Allier , Sophie Morales , Sergei Grudinin et al.
Three-Dimensional and Multidimensional Microscopy: Image Acquisition and Processing XXVIII, SPIE, Mar 2021, Online Only, France. pp.1, ⟨10.1117/12.2582361⟩
Conference papers hal-03454249v1

A new mutation identified in SPATA16 in two globozoospermic patients

Elias Elinati , Camille Fossard , Ozlem Okutman , Houda Ghédir , Samira Ibala-Romdhane et al.
Journal of Assisted Reproduction and Genetics, 2016, 33 (6), pp.815-820. ⟨10.1007/s10815-016-0715-3⟩
Journal articles hal-03680057v1
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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.
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Journal articles hal-03025179v1
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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.
International Journal of Molecular Sciences, 2021, 22 (4), pp.2187. ⟨10.3390/ijms22042187⟩
Journal articles hal-03365058v1
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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.
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Journal articles hal-03369854v1
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Genetics of teratozoospermia: Back to the head

Julie Beurois , Caroline Cazin , Zine-Eddine Kherraf , Guillaume Martinez , Tristan Celse et al.
Best Practice and Research: Clinical Endocrinology and Metabolism, In press, pp.101473. ⟨10.1016/j.beem.2020.101473⟩
Journal articles hal-03004973v1
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A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females

Corinne Loeuillet , Magali Dhellemmes , Caroline Cazin , Zine‐eddine Kherraf , Selima Fourati Ben Mustapha et al.
Clinical Genetics, 2022, 102 (1), pp.22-29. ⟨10.1111/cge.14144⟩
Journal articles hal-03720194v1
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The sodium/proton exchanger SLC9C1 ( sNHE ) is essential for human sperm motility and fertility

Emma Cavarocchi , Marjorie Whitfield , Ahmed Chargui , Laurence Stouvenel , Patrick Lorès et al.
Clinical Genetics, 2021, 99 (5), pp.684-693. ⟨10.1111/cge.13927⟩
Journal articles hal-03369825v1
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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

Pantoprazole, a proton‐pump inhibitor, impairs human sperm motility and capacitation in vitro

Jessica Escoffier , Bastien Arnaud , Mayis Kaba , Jean Pascal Hograindleur , Emilie Le Blévec et al.
Andrology, 2020, 8 (6), pp.1795-1804. ⟨10.1111/andr.12855⟩
Journal articles hal-03005086v1

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

Lucile Ferreux , Mathilde Bourdon , Ahmed Chargui , Alain Schmitt , Laurence Stouvenel et al.
Human Reproduction, 2021, 36 (11), pp.2848-2860. ⟨10.1093/humrep/deab200⟩
Journal articles hal-03873460v1