Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Isabelle, Gourlaouen"'
Autor:
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Summary: Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is a
Externí odkaz:
https://doaj.org/article/628bcda8ead241819061e4af36cf09ea
Autor:
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Abstract Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure
Externí odkaz:
https://doaj.org/article/7d3c43e10fb04b28ae396953bb1e0314
Autor:
Emmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, Marc Le Rhun, Chandran Ka, Sandrine Autret, Isabelle Gourlaouen, David N. Cooper, Claude Férec, Vinciane Rebours, Jian-Min Chen
Publikováno v:
Pancreatology.
Autor:
Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
Haematologica, Vol 103, Iss 11 (2018)
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1. This gene encodes ferroportin 1 (FPN1), which i
Externí odkaz:
https://doaj.org/article/1f0d0cbc356347acb8324b9633747899
Autor:
Gérald Le Gac, Virginie Scotet, Isabelle Gourlaouen, Carine L'Hostis, Marie‐Christine Merour, Zoubida Karim, Yves Deugnier, Edouard Bardou‐Jacquet, Thibaud Lefebvre, Suzanne Assari, Claude Ferec
Publikováno v:
Alimentary Pharmacology and Therapeuthics
Alimentary Pharmacology and Therapeuthics, 2022, 55 (8), pp.1016-1027. ⟨10.1111/apt.16775⟩
Alimentary Pharmacology and Therapeuthics, 2022, 55 (8), pp.1016-1027. ⟨10.1111/apt.16775⟩
International audience; Background: Venesection is the key therapy in haemochromatosis, but it remains controversial in hyperferritinaemia with moderate iron accumulation. There is substantial evidence that the results of HFE genotyping are routinely
Autor:
Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert‐Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sebastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert‐Dussardier, Annick Toutain, Anne Boland, Jean‐François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kevin Uguen
Publikováno v:
Clinical Genetics
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
International audience
Autor:
Yann Fichou, Gérald Le Gac, Chandran Ka, Loann Raud, Isabelle Gourlaouen, Isabelle Callebaut, Claude Férec
Publikováno v:
Transfusion. 59:1367-1375
Background We previously showed that several variations in the RHD gene, including synonymous changes, can be classified as splice site variants and may play a direct role in D variant phenotype expression. We sought to extend our study to additional
Autor:
Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e81128 (2013)
Despite type I haemochromatosis (HC) is mainly associated with the HFE C282Y/C282Y genotype, a second genotype -C282Y/H63D- has mostly been described in other patients. Its association with HC, apart from any associated co-morbid factors, remains unc
Externí odkaz:
https://doaj.org/article/3696df7408e14e219065d8c0cc60737c
Autor:
Gérald Le Gac, Yann Fichou, Chandran Ka, Charles Coutton, Emmanuel Dulioust, Graciane Petre, Marie Bidart, Denis Dacheux, Raoudha Zouari, Nicolas Thierry-Mieg, Isabelle Gourlaouen, Julie Beurois, Mélanie Bonhivers, Guillaume Martinez, Derrick R. Robinson, Véronique Satre, Zine-Eddine Kherraf, Pierre F. Ray, Caroline Cazin, Christophe Arnoult, Aminata Touré
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
BackgroundMultiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73c9d7565b67354b20b0734c2ecdd9d
https://hal-cnrs.archives-ouvertes.fr/hal-03004959
https://hal-cnrs.archives-ouvertes.fr/hal-03004959
Autor:
Gérald Le Gac, Isabelle Gourlaouen, Carlos Casasnovas, Stéphane Fourcade, Agatha Schlüter, Aurora Pujol, Agustí Rodríguez-Palmero, Chandran Ka, Montserrat Ruiz, Edgard Verdura, Ricardo Lobato, Juan José Martínez
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (9), pp.1574-1579. ⟨10.1002/acn3.51131⟩
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Universidad de Barcelona
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, 7 (9), pp.1574-1579. ⟨10.1002/acn3.51131⟩
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Objective: To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods: We applied whole-exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 yea