Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3-Related Moyamoya Angiopathy

por Pyra, Pierrick, Darcourt, Jean, Aubert-Mucca, Marion, Brandicourt, Pierre, Patat, Olivier, Cheuret, Emmanuel, Brochard, Karine, Sevely, Annick, Calviere, Lionel, Karsenty, Clément
Publicado 2021

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and revie...

por Aubert-Mucca, Marion, Dubucs, Charlotte, Groussolles, Marion, Vial, Julie, Le Guillou, Edouard, Porquet-Bordes, Valerie, Pasmant, Eric, Salles, Jean-Pierre, Edouard, Thomas
Publicado 2021

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus...

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Marcheix, Bertrand, Dulac, Yves, Edouard, Thomas, Plaisancié, Julie, Aubert‐Mucca, Marion, Julia, Sophie, Langeois, Maud, Lavabre‐Bertrand, Thierry, Khau Van Kien, Philippe
Publicado 2021

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

por Chesneau, Bertrand, Plancke, Aurélie, Rolland, Guillaume, Chassaing, Nicolas, Coubes, Christine, Brischoux-Boucher, Elise, Edouard, Thomas, Dulac, Yves, Aubert-Mucca, Marion, Lavabre-Bertrand, Thierry, Plaisancié, Julie, Khau Van Kien, Philippe
Publicado 2021

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis

por Caetano da Silva, Caroline, Edouard, Thomas, Fradin, Melanie, Aubert-Mucca, Marion, Ricquebourg, Manon, Raman, Ratish, Salles, Jean Pierre, Charon, Valérie, Guggenbuhl, Pascal, Muller, Marc, Cohen-Solal, Martine, Collet, Corinne
Publicado 2021