Caroline Cazin

发表

CFAP61 is required for sperm flagellum formation and male fertility in human and mouse

P. Ray, Siyu Liu, Jintao Zhang, 2021, bioRxiv.

The genetic architecture of morphological abnormalities of the sperm tail

P. Ray, Zine-Eddine Kherraf, Caroline Cazin, 2020, Human Genetics.

Genetics of teratozoospermia: Back to the head.

P. Ray, Zine-Eddine Kherraf, Caroline Cazin, 2020, Best practice & research. Clinical endocrinology & metabolism.

Oligogenic heterozygous inheritance of sperm abnormalities in mouse

P. Ray, S. Nef, Zine-Eddine Kherraf, 2022, eLife.

The essential role of intraflagellar transport protein IFT81 in male mice spermiogenesis and fertility.

Qi Zhou, C. Quan, P. Ray, 2020, American journal of physiology. Cell physiology.

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2022, Clinical genetics.

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

M. Ikawa, P. Ray, L. Jin, 2020, American journal of human genetics.

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

P. Ray, L. Jin, Yunxia Cao, 2019, Journal of Medical Genetics.

The genetic architecture of morphological abnormalities of the sperm tail

P. Ray, Zine-Eddine Kherraf, Caroline Cazin, 2020, Human Genetics.

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

N. Thierry-Mieg, P. Ray, H. Gourabi, 2019, Clinical genetics.

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH 2 mutations

N. Thierry-Mieg, P. Ray, H. Gourabi, 2019 .

Oligogenic heterozygous inheritance of sperm abnormalities in mouse

P. Ray, S. Nef, Zine-Eddine Kherraf, 2021, bioRxiv.

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

N. Thierry-Mieg, P. Ray, L. Raymond, 2022, American journal of human genetics.

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

P. Ray, S. Savinov, F. Guillonneau, 2019, American journal of human genetics.

Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2021, International journal of molecular sciences.

KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.

P. Ray, M. Totonchi, Navid Almadani, 2021, European journal of obstetrics, gynecology, and reproductive biology.

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.

N. Thierry-Mieg, S. Brouillet, P. Ray, 2019, Human reproduction.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human Genetics.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human genetics.

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

N. Thierry-Mieg, P. Ray, Y. Fichou, 2020, Journal of Medical Genetics.

Novel axonemal protein ZMYND12 is required for flagellum function and male fertility

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023 .

Lack of CCDC 146 , a ubiquitous centriole and microtubule-associated protein , 2 leads to non-syndromic male infertility in human and mouse 3 4 5

N. Thierry-Mieg, S. Geimer, P. Ray, 2023 .

Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report.

N. Thierry-Mieg, P. Ray, A. Loundou, 2020, Human reproduction.

CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.

P. Ray, Siyu Liu, Jintao Zhang, 2021, Development.

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2023, International journal of molecular sciences.

Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B

N. Thierry-Mieg, P. Ray, S. Nef, 2021, Cells.

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

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2021, Human Genetics.

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023, bioRxiv.

Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

N. Thierry-Mieg, Kuokuo Li, F. Tao, 2021, Human Genetics.

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

N. Thierry-Mieg, P. Ray, Caroline Cazin, 2023, iScience.

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

N. Thierry-Mieg, P. Ray, E. Bieth, 2023, Journal of genetics and genomics = Yi chuan xue bao.

CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.

P. Ray, Caroline Cazin, A. Touré, 2023, Clinical Genetics.

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

S. Geimer, P. Ray, N. Klena, 2023, bioRxiv.

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

P. Ray, Caroline Cazin, C. Coutton, 2022, Asian journal of andrology.