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A recurrent loss‐of‐function variant in DRC1 causes non‐syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes
Célia Tebbakh
,
Anne‐laure Barbotin
,
Guillaume Martinez
,
Angèle Boursier
,
Zeina Wehbe
et al.
Article dans une revue
hal-04920445
v1
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Administration of ethiodized poppy seed oil-based contrast agent into the uterus enhances fertilization rate in mice inseminated with low sperm numbers
Edgar del Llano
,
Marlene Rasschaert
,
Christophe Arnoult
,
Philippe Robert
,
Pierre F Ray
et al.
Article dans une revue
hal-05354591
v1
|
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A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice
Jana Muroňová
,
Emeline Lambert
,
Chanyuth Thamwan
,
Zeina Wehbe
,
Magali Court
et al.
Article dans une revue
hal-05354598
v1
|
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Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants.
Zeina Wehbe
,
Anne-Laure Barbotin
,
Angèle Boursier
,
Caroline Cazin
,
Jean‐pascal Hograindleur
et al.
Article dans une revue
hal-04700579
v1
|
|
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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Jana Muroňová
,
Zine-Eddine Kherraf
,
Elsa Giordani
,
Simon Eckert
,
Caroline Cazin
et al.
Article dans une revue
hal-04236524
v1
|
|
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Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family
Amir Amiri-Yekta
,
Sharanya Sen
,
Florence Hazane-Puch
,
Célia Tebbakh
,
Nathalie Roux-Buisson
et al.
Article dans une revue
hal-04633652
v1
|
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A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility
Zine-Eddine Kherraf
,
Anne-Laure Barbotin
,
Guillaume Martinez
,
Aurélien Mazet
,
Caroline Cazin
et al.
Article dans une revue
hal-04780903
v1
|
|
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Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants
Zeina Wehbe
,
Anne‐laure Barbotin
,
Angèle Boursier
,
Caroline Cazin
,
Jean‐pascal Hograindleur
et al.
Article dans une revue
hal-04781935
v1
|
|
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Sperm fertility in mice with oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA
Charline Vilpreux
,
Guillaume Martinez
,
Magali Court
,
Florence Appaix
,
Jean-Luc Duteyrat
et al.
Article dans une revue
hal-04780939
v1
|
|
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A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility
Zine‐eddine Kherraf
,
Anne‐laure Barbotin
,
Guillaume Martinez
,
Aurélien Mazet
,
Caroline Cazin
et al.
Article dans une revue
hal-04601943
v1
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CCDC65, encoding a component of the axonemal Nexin-Dynein Regulatory Complex, is required for sperm flagellum structure in humans
Fadwa Jreijiri
,
Emma Cavarocchi
,
Amir Amiri-Yekta
,
Caroline Cazin
,
Seyedeh‐hanieh Hosseini
et al.
Article dans une revue
hal-05401224
v1
|
|
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Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function
Denis Dacheux
,
Guillaume Martinez
,
Christine Broster Reix
,
Julie Beurois
,
Patrick Lorès
et al.
Article dans une revue
hal-04241708
v1
|
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Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
Alicia Coudert
,
Caroline Cazin
,
Amir Amiri-Yekta
,
Selima Fourati Ben Mustapha
,
Raoudha Zouari
et al.
Article dans une revue
hal-04256999
v2
|
|
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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.
Article dans une revue
hal-03720194
v1
|
|
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Recommandations de l’AFU et de la SALF concernant l’ évaluation de l’homme infertile
Eric Huyghe
,
Florence Boitrelle
,
Charlotte Methorst
,
Roger Mieusset
,
Pierre Ray
et al.
Article dans une revue
hal-03184036
v1
|
|
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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.
Article dans une revue
hal-03025179
v1
|
|
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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.
Article dans une revue
hal-03365058
v1
|
|
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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.
Article dans une revue
hal-03369854
v1
|
|
|
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.
Article dans une revue
hal-03365264
v1
|
|
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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.
Article dans une revue
hal-03369825
v1
|
|
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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.
Article dans une revue
hal-03873460
v1
|
|
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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
Article dans une revue
hal-03005093
v1
|
|
|
The genetic architecture of morphological abnormalities of the sperm tail
Aminata Touré
,
Guillaume Martinez
,
Zine-Eddine Kherraf
,
Caroline Cazin
,
Julie Beurois
et al.
Article dans une revue
hal-03004953
v1
|
|
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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.
Article dans une revue
hal-03004959
v1
|
|
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Paternal epigenetics: Mammalian sperm provide much more than DNA at fertilization
Emilie Le Blévec
,
Jana Muroňová
,
Pierre Ray
,
Christophe Arnoult
Article dans une revue
hal-03005088
v1
|
|
|
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.
Article dans une revue
hal-03004971
v1
|
|
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Genetics of teratozoospermia: Back to the head
Julie Beurois
,
Caroline Cazin
,
Zine-Eddine Kherraf
,
Guillaume Martinez
,
Tristan Celse
et al.
Article dans une revue
hal-03004973
v1
|
|
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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.
Article dans une revue
hal-03005086
v1
|
|
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Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos
Guillaume Martinez
,
Jean-Pascal Hograindleur
,
Louise Jeammet
,
Emilie Le Blévec
,
Charles Coutton
et al.
Article dans une revue
hal-02324031
v1
|
|
|
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
C. Coutton
,
G. Martinez
,
Z.-E. Kherraf
,
A. Amiri-Yekta
,
M. Boguenet
et al.
Article dans une revue
hal-02003335
v1
|
|
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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.
Article dans une revue
hal-02347512
v1
|
|
|
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.
Article dans une revue
hal-02322935
v1
|
|
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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
Article dans une revue
hal-02350815
v1
|
|
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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility
Patrick Lorès
,
Denis Dacheux
,
Zine-Eddine Kherraf
,
Jean-Fabrice Nsota Mbango
,
Charles Coutton
et al.
Article dans une revue
hal-02370384
v1
|
|
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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.
Article dans une revue
hal-01877985
v1
|
|
|
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice
Marie Christou‐kent
,
Zine‐eddine Kherraf
,
Amir Amiri‐yekta
,
Emilie Le Blévec
,
Thomas Karaouzène
et al.
Article dans une revue
hal-01877992
v1
|
|
|
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.
Article dans une revue
hal-02350874
v1
|
|
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Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia
Patrick Lorès
,
Charles Coutton
,
Elma El Khouri
,
Laurence Stouvenel
,
Maelle Givelet
et al.
Article dans une revue
hal-02346745
v1
|
|
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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.
Article dans une revue
hal-01877993
v1
|
|
|
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP
Jessica Escoffier
,
Hoi Chang Lee
,
Sandra Yassine
,
Raoudha Zouari
,
Guillaume Martinez
et al.
Article dans une revue
hal-01877966
v1
|
|
|
A new mutation identified in SPATA16 in two globozoospermic patients
Elias Elinati
,
Camille Fossard
,
Ozlem Okutman
,
Houda Ghédir
,
Samira Ibala-Romdhane
et al.
Article dans une revue
hal-03680057
v1
|
|
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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.
Article dans une revue
istex
hal-01980733
v1
|
|
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Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice
Thomas Karaouzène
,
Michèle El Atifi
,
Jean-Paul Issartel
,
Marianne Grepillat
,
Charles Coutton
et al.
Basic and Clinical Andrology, 2013, 23 (1), pp.7
Article dans une revue
inserm-00880088
v1
|
|
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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.
Article dans une revue
inserm-00588067
v1
|
|
|
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
Mariem Ben Khelifa
,
Raoudha Zouari
,
Radu Harbuz
,
Lazhar Halouani
,
Christophe Arnoult
et al.
Article dans une revue
inserm-00639414
v1
|
|
|
DPY19L2 Deletion as a Major Cause of Globozoospermia
Isabelle Koscinski
,
Elias Elinati
,
Camille Fossard
,
Claire Redin
,
Jean Muller
et al.
Article dans une revue
hal-05007899
v1
|
|
|
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
Radu Harbuz
,
James Lespinasse
,
Stéphanie Boulet
,
Christine Francannet
,
Isabelle Creveaux
et al.
Article dans une revue
istex
inserm-00588282
v1
|
|
|
Snake venoms as a source of compounds modulating sperm physiology: Secreted phospholipases A2 from Oxyuranus scutellatus scutellatus impact sperm motility, acrosome reaction and in vitro fertilization in mice.
Jessica Escoffier
,
Morgane Couvet
,
Harold de Pomyers
,
Pierre F. Ray
,
Michel Seve
et al.
Article dans une revue
hal-00497569
v1
|
|
|
[Function of aurora kinase C (AURKC) in human reproduction]
Radu Harbuz
,
Raoudha Zouari
,
Klaus Dieterich
,
Yorgos Nikas
,
Joël Lunardi
et al.
Article dans une revue
inserm-00515896
v1
|
|
|
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
Klaus Dieterich
,
Raoudha Zouari
,
Radu Harbuz
,
François Vialard
,
Delphine Martinez
et al.
Article dans une revue
inserm-00410300
v1
|
|
|
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.
Klaus Dieterich
,
Ricardo Soto Rifo
,
Anne Karen Faure
,
Sylviane Hennebicq
,
Baha Ben Amar
et al.
Article dans une revue
inserm-00381942
v1
|