Kolexia
Coutton Charles Pharmacien
Coutton Charles
Pharmacien
Hôpital Nord Grenoble
La Tronche, France
150 Activités
18 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Infertilité masculine Infertilité Tératozoospermie Déficience intellectuelle Asthénozoospermie Malformations multiples Délétion de segment de chromosome Retard mental lié à l'X Translocation génétique

Collaborateurs

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Satre Veronique
Satre Veronique
Hôpital Nord Grenoble, La Tronche, France
Kherraf Zine-Eddine
Kherraf Zine-Eddine
Institut National De La Sante Et De La Recherche Medicale, Paris, France
Devillard Francoise
Devillard Francoise
Hôpital Nord Grenoble, La Tronche, France
Jouk Pierre-Simon
Jouk Pierre-Simon
Hôpital Nord Grenoble, La Tronche, France

Industries

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EXAFIELD
1 collaboration(s)
Dernière en 2022
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Dernières activités

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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
eLife   05 mars 2024
Streamlining cytogenetics analysis of genome sequencing data: a comprehensive guide for Balanced Structural Variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Expanding MNS1 heterotaxy phenotype
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Familial KCNQ2 mutation: a psychiatric perspective.
Psychiatric genetics   13 décembre 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Clinical genetics   11 novembre 2023
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
eLife   07 novembre 2023
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Reproductive biomedicine online   07 août 2023
Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
iScience   10 juillet 2023
Whole genome sequencing for copy number variation and structural variant analyses
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023