Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

by Fabrice Rannou, Virginie Scotet, Pascale Marcorelles, Roxane Monnoyer, Cédric Le Maréchal
Published 2017-01-01

Whole-Genome Sequencing Improves the Diagnosis of <i>DFNB1</i> Monoallelic Patients

by Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Stéphanie Moisan
Published 2021-08-01

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.

by Fabrice Rannou, Arnaud Uguen, Virginie Scotet, Cédric Le Maréchal, Odile Rigal, Pascale Marcorelles, Eric Gobin, Jean-Luc Carré, Fabien Zagnoli, Marie-Agnès Giroux-Metges
Published 2015-01-01

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

by Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet
Published 2013-01-01

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

by Paul Guéguen, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan-Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean-Francois Abgrall, Cédric Le Maréchal, Claude Férec
Published 2013-01-01

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

by Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Published 2021-07-01