Kolexia
Gruchy Nicolas Génétique médicale
Gruchy Nicolas
Génétique médicale
Hôpital Côte de Nacre
Caen, France
59 Activités
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Pseudohypoparathyroïdie Délétion de segment de chromosome Aberrations des chromosomes Arthrose Translocation génétique Monosomie Maladies chromosomiques Cardiopathies congénitales

Collaborateurs

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Vialard Francois
Vialard Francois
Chi Poissy St Germain Site De Poissy, Poissy, France
Leporrier Nathalie
Leporrier Nathalie
CHU Caen, Caen, France
Molin Arnaud
Molin Arnaud
Hôpital Côte de Nacre, Caen, France
Doco-Fenzy Martine
Doco-Fenzy Martine
Maison Blanche, Reims, France

Industries

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B3TSI
2 collaboration(s)
Dernière en 2021
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Dernières activités

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3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
American journal of medical genetics. Part A   26 octobre 2023
MiR-4270 acts as a tumor suppressor by directly targeting Bcl-xL in human osteosarcoma cells.
Frontiers in oncology   31 août 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Scientific reports   10 août 2023
O-305窶クext-generation sequencing of a cohort of 100 patients with diminished ovarian reserve reveals an etiology in 27% of cases and may predict the fertility prognosis
39th Hybrid Annual Meeting of the European Society of Human Reproduction and Embryology   22 juin 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Research square   27 mars 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frontiers in genetics   23 mars 2023
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Journal of medical genetics   11 novembre 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
EBioMedicine   10 septembre 2022