Kolexia
Plaisancie Julie Génétique médicale
Plaisancie Julie
Génétique médicale
Hôpital Purpan
Toulouse, France
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{{person.topmesh1.name}} Microphtalmie Anophtalmie Syndrome de Loeys-Dietz Syndrome de Marfan Malformations oculaires Aniridie Colobome Cataracte Prédisposition génétique à une maladie

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Chassaing Nicolas
Chassaing Nicolas
Hôpital Purpan, Toulouse, France
Calvas Patrick
Calvas Patrick
Hôpital Purpan, Toulouse, France
Chesneau Bertrand
Chesneau Bertrand
Hôpital Purpan, Toulouse, France
Dulac Yves
Dulac Yves
Hôpital Paule de Viguier, 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
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
European journal of human genetics : EJHG   05 octobre 2023
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
Implication of a non-coding variation of FOXE3 in an individual displaying a complex microphthalmia
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genetics in medicine : official journal of the American College of Medical Genetics   20 avril 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
European journal of human genetics : EJHG   31 mars 2023
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
American journal of medical genetics. Part A   03 février 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic genetics   26 janvier 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in in Congenital Aniridia.
International journal of molecular sciences   13 janvier 2023