Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Thomas Foulonneau"'
Autor:
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Measurement(s) sequence_variant • Phenotypic variability Technology Type(s) DNA sequencing • Ophthalmologist Factor Type(s) sequence variant • phenotype Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing t
Externí odkaz:
https://doaj.org/article/195296a2e17347d9a874041f568137b7
Autor:
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.
Externí odkaz:
https://doaj.org/article/6d5fc2a1aab74e569c1b570b943614bd
Autor:
Anne Jouinot, Yoann Martin, Thomas Foulonneau, Yanis Bendjelal, Philip Calvet, Florian Violon, Mathilde Sibony, De Murat Daniel, Roberta Armignacco, Karine Perlemoine, Franck Letourneur, Brigitte Izac, Muriel Andrieu, Annabel Berthon, Bruno Ragazzon, Lionel Groussin, Rossella Libe, Jerome Bertherat, Guillaume Assie
Publikováno v:
Endocrine Abstracts.
Autor:
Dan Milea, Khadidja Guehlouz, Patrizia Amati-Bonneau, Dominique Bonneau, Thomas Foulonneau, Céline Bris, Guy Lenaers, Johan T. den Dunnen, Philippe Gohier, Vincent Procaccio, Valérie Desquiret-Dumas, Pascal Reynier, Estelle Colin, Marc Ferré, Majida Charif
Publikováno v:
Scientific Data
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes
Autor:
Bertrand Dousset, Simon Faillot, Anna Vaczlavik, Jean Guibourdenche, Lionel Groussin, Mathilde Sibony, Fideline Bonnet-Serrano, Stéphanie Espiard, Amandine Septier, Mario Neou, Ludivine Drougat, Marthe Rizk-Rabin, Bruno Ragazzon, Guillaume Assié, Simon Garinet, Thomas Foulonneau, Anne Jouinot, Windy Rondof, Rossella Libé, Karine Hecale-Perlemoine, Aurélien de Reyniès, Jérôme Bertherat
Publikováno v:
Endocrine-Related Cancer
Endocrine-Related Cancer, BioScientifica, 2020, ⟨10.1530/ERC-20-0128⟩
Endocrine-Related Cancer, BioScientifica, 2020, ⟨10.1530/ERC-20-0128⟩
Benign adrenal tumors cover a spectrum of lesions with distinct morphology and steroid secretion. Current classification is empirical. Beyond a few driver mutations, pathophysiology is not well understood. Here, a pangenomic characterization of benig