Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

por Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent
Publicado 2019

Mini-dystrophin Expression Down-regulates Overactivation of G Protein–mediated IP3 Signaling Pathway in Dystrophin-deficient Muscle Cells

por Balghi, Haouaria, Sebille, Stéphane, Constantin, Bruno, Patri, Sylvie, Thoreau, Vincent, Mondin, Ludivine, Mok, Elise, Kitzis, Alain, Raymond, Guy, Cognard, Christian
Publicado 2006

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

por Alaa el Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain
Publicado 2015

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

por Giraud, Sophie, Bardel, Claire, Dupuis-Girod, Sophie, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Riviere, Sophie, Saurin, Jean-Christophe, Eyries, Mélanie, Patri, Sylvie, Decullier, Evelyne, Calender, Alain, Lesca, Gaëtan
Publicado 2020