Kolexia
Fergelot Patricia Biologie médicale
Fergelot Patricia
Biologie médicale
Hôpital Pellegrin
Bordeaux, France
70 Activités
1 Followers
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{{person.topmesh1.name}} Syndrome de Rubinstein-Taybi Néphrocarcinome Carcinomes Déficience intellectuelle Prédisposition génétique à une maladie Tumeurs du rein Hétérotopie nodulaire périventriculaire Faciès Malformations crâniofaciales

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Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Goizet Cyril
Goizet Cyril
Hôpital Pellegrin, Bordeaux, France
Van-Gils Julien
Van-Gils Julien
Ecole De Sages Femmes, Bordeaux, France
Rooryck-Thambo Caroline
Rooryck-Thambo Caroline
Hôpital Pellegrin, Bordeaux, France

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Vertex
6 collaboration(s)
Dernière en 2017
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Dernières activités

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Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Autosomal dominant MPAN: mosaicism expands the phenotypic spectrum to frontotemporal dementia
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nature communications   28 septembre 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Movement disorders : official journal of the Movement Disorder Society   21 août 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
Contribution of non-coding de novo NIPBL variants to Cornelia de Lange syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
-related disorder: phenotypic and molecular spectrum.
Journal of medical genetics   25 avril 2023
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society   23 décembre 2022
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Nature communications   16 novembre 2022