Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation

by Aoife J McCarthy, Jose‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty
Published 2019-04-01

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
Published 2014-05-01

De novo mutations in moderate or severe intellectual disability.

by Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V Pshezhetsky, Sunita Venkateswaran, Guy A Rouleau, Jacques L Michaud
Published 2014-10-01