نتائج البحث - Laurent Tosolini
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1
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections حسب Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong Guo, Laurent Tosolini, Benoît Ho‐Tin‐Noé, Ellen S. Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis‐Girod, Laurence Faivre, Thomas Édouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Cathérine Boileau
منشور في 2014Artigo -
2
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation حسب Marie Marduel, Khadija Ouguerram, Valérie Serre, Dominique Bonnefont–Rousselot, Alice Marques-Pinheiro, Knut Erik Berge, Martine Devillers, Gérald Luc, Jean‐Michel Lecerf, Laurent Tosolini, D. Erlich, Gina M. Peloso, Nathan O. Stitziel, Patrick Nitchké, Jean-Philippe Jaïs, Marianne Abifadel, Sekar Kathiresan, Trond P. Leren, Jean‐Pierre Rabès, Cathérine Boileau, Mathilde Varret
منشور في 2012Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Exome sequencing
Gene
Genetics
Internal medicine
Medicine
Mutation
Allele
Aneurysm
Aortic aneurysm
Apolipoprotein B
Apolipoprotein E
Cholesterol
Diabetes mellitus
Disease
Endocrinology
Exome
Extracellular matrix
Fibrillin
Haploinsufficiency
Hyperlipidemia
Marfan syndrome
Missense mutation
Mutant
Nonsense mutation
Phenotype
Proband
Surgery
Thoracic aortic aneurysm