Kolexia
Brisset Sophie Biologie médicale
Brisset Sophie
Biologie médicale
Centre hospitalier de Versailles
Le Chesnay, France
40 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Aberrations des chromosomes Maladies chromosomiques Délétion de segment de chromosome Malformations multiples Infertilité Infertilité masculine Maladies foetales Inversion chromosomique Duplication chromosomique

Collaborateurs

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Tachdjian Gerard
Tachdjian Gerard
Hôpital Antoine-Béclère, Clamart, France
Metay Corinne
Metay Corinne
Hôpital Pitie Salpetriere, Paris, France
Petit Francois
Petit Francois
Centre Antoine Lacassagne, Nice, France
Martinovic Jelena
Martinovic Jelena
Hôpital Antoine-Béclère, Clamart, France

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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
Prenatal Diagnosis of Primrose Syndrome.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine   06 novembre 2023
EP21.28: Prenatal diagnosis of Primrose syndrome
Abstracts of the 33rd World Congress on Ultrasound in Obstetrics and Gynecology, 16–19 October 2023, Seoul, South Korea   02 octobre 2023
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Scientific reports   22 août 2022
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Molecular genetics & genomic medicine   28 septembre 2021
Case Report: -Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.
Frontiers in cardiovascular medicine   13 septembre 2021
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.
BMC health services research   23 décembre 2019
Prenatal and postnatal molecular characterization by Whole Genome Sequencing (WGS) of de novo structural variations (SVs)
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Chromosomal translocations and semen quality: A study on 144 male translocation carriers.
Reproductive biomedicine online   13 novembre 2018
Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.
Taiwanese journal of obstetrics & gynecology   14 juin 2018