Kolexia
Chesneau Bertrand Génétique médicale
Chesneau Bertrand
Génétique médicale
Hôpital Purpan
Toulouse, France
64 Activités
393 Followers
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{{person.topmesh1.name}} Syndrome de Loeys-Dietz Syndrome de Marfan Anévrysme Maladies de l'aorte Anévrysme de l'aorte Microphtalmie Syndrome d'Ehlers-Danlos Anévrysme de l'aorte thoracique Opacité cornéenne

Collaborateurs

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Plaisancie Julie
Plaisancie Julie
Hôpital Purpan, Toulouse, France
Dulac Yves
Dulac Yves
Hôpital Paule de Viguier, Toulouse, France
Edouard Thomas
Edouard Thomas
Hôpital Paule de Viguier, Toulouse, France
Chassaing Nicolas
Chassaing Nicolas
Hôpital Purpan, Toulouse, France

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Dernières activités

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Role of RBP4 in eye development: 7 novel families with ocular malformations and literature review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical, genetic and biochemical signatures of -related ocular malformations.
Journal of medical genetics   16 août 2023
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
European journal of human genetics : EJHG   13 mai 2023
Cardiovascular and Connective Tissue Disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
American journal of medical genetics. Part A   03 février 2023
Evaluation of fitness capacities of children and young adults with Marfan and related conditions
JESFC 2023   01 janvier 2023
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
European journal of human genetics : EJHG   21 novembre 2022
Evaluation of fitness capacities of children and young adults with Marfan and related conditions
FCPC 2022   01 septembre 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clinical genetics   27 février 2022
Impact of genotype on the progression of aortic disease in patients with Marfan syndrome and Loeys-Dietz syndrome
JESFC 2022   01 janvier 2022