Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

Autor: Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez

Publikováno v: Haematologica, Vol 98, Iss 4 (2013)

Externí odkaz: https://doaj.org/article/a2ccbe5592034c6bb03a124baa391176

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload

Autor: Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, Michael Bismuth, Séverine Cunat, Hélène Igual, Jean François Schved

Publikováno v: Haematologica, Vol 95, Iss 4 (2010)

Externí odkaz: https://doaj.org/article/7b3eeda6983246f49e4e3b47d08bcbd7

GGCX ‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Autor: Tania Attié-Bitach, Alix Mathonnet, Sandrine Meunier, Charline Cartellier, Renaud Touraine, Marianne Till, Audrey Putoux, Séverine Cunat, Sandrine Caillot, Cyrielle Thonnon, Massimiliano Rossi, Jocelyne Attia, Fabienne Allias

Publikováno v: American Journal of Medical Genetics Part A. 188:314-318

Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1015798ad5ddd46d0918c4f41048de57
https://doi.org/10.1002/ajmg.a.62503

A simple clinical score to promote and enhance ferroportin disease screening

Autor: Caroline de Kerguenec, Fabrice Laine, Séverine Cunat, Patricia Aguilar-Martinez, Xavier Causse, Lénaïck Détivaud, Bernard Drenou, Edouard Bardou-Jacquet, Gilles Pelletier, Olivier Loréal, Véronique Loustaud-Ratti, Houda Hamdi-Rozé, Yves Deugnier, Si Nafa Si Ahmed, Amandine Landemaine, Stéphane Durupt, Christophe Bureau, Martine Ropert, Nathalie Ganne-Carrié, Jeff Morcet

Publikováno v: Journal of Hepatology
Journal of Hepatology, Elsevier, 2021, ⟨10.1016/j.jhep.2021.10.022⟩
Journal of Hepatology, 2022, 76 (3), pp.568-576. ⟨10.1016/j.jhep.2021.10.022⟩

International audience; Background & aims - Ferroportin disease is a rare genetic iron overload disorder which may be underdiagnosed, with recent data suggesting it occurs at a higher prevalence than suspected. Costs and the lack of defined criteria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28daa4fdcbf86095371d6c1ed9d69085
https://pubmed.ncbi.nlm.nih.gov/34748893

Hepcidin: immunoanalytic characteristics

Autor: Séverine Cunat, Benoit Rucheton, Thibaud Lefebvre, Jérôme Vialaret, Constance Delaby, Hubert de Verneuil, Patricia Aguilar-Martinez, Fleur Wolff, Sylvain Lehmann, Martine Ropert-Bouchet

Publikováno v: Annales de Biologie Clinique
Annales de Biologie Clinique, John Libbey Eurotext, 2018, 76 (6), pp.705-715. ⟨10.1684/abc.2018.1382⟩

International audience; Hepcidin has progressively become essential in clinical practice for the diagnosis and follow-up of a large spectrum of diseases. Anyway, its own biochemical and structural characteristics have complicated and delayed the acqu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5f6393f704ce36e2ca6716876107468
https://pubmed.ncbi.nlm.nih.gov/30257815