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Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|December 1, 2020
Liver Transplantation for Acute Intermittent PorphyriaMattias Lissing, Greg Nowak, René Adam, et al.
Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
American Journal of Human Genetics|September 2, 2008
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadSharon D Whatley, Sarah Ducamp, Laurent Gouya, et al.
Molecular Therapy. Nucleic Acids|August 30, 2021
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacksDaniel Jericó, Karol M Córdoba, Lei Jiang, et al.
Plos One|May 9, 2014
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening conditionMélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, et al.
Gastroenterology|November 20, 2015
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in HumansRaed Daher, Caroline Kannengiesser, Dounia Houamel, et al.
Orphanet Journal of Rare Diseases|December 5, 2019
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosisRaphael Borie, Caroline Kannengiesser, Laurent Gouya, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 22, 2017
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutationsJulien Thevenon, Gabriel Laurent, Flavie Ader, et al.
Human Molecular Genetics|January 22, 2016
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancerNadia Nathan, Violaine Giraud, Clément Picard, et al.
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