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

por Rannou, Fabrice, Scotet, Virginie, Marcorelles, Pascale, Monnoyer, Roxane, Le Maréchal, Cédric
Publicado 2017

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance li...

por Le Maréchal, Cedric, Chen, Jian-Min, Quéré, Isabelle, Raguénès, Odile, Férec, Claude, Auroux, Jean
Publicado 2001

The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies

por Noury, Jean-Baptiste, Zagnoli, Fabien, Petit, François, Le Maréchal, Cédric, Marcorelles, Pascale, Rannou, Fabrice
Publicado 2020

Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients

por Le Nabec, Anaïs, Collobert, Mégane, Le Maréchal, Cédric, Marianowski, Rémi, Férec, Claude, Moisan, Stéphanie
Publicado 2021

Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It?

por Corcos, Laurent, Le Scanf, Enora, Quéré, Gaël, Arzur, Danielle, Cueff, Gwennina, Jossic-Corcos, Catherine Le, Le Maréchal, Cédric
Publicado 2023

NRAS(Q61R), BRAF(V600E) immunohistochemistry: a concomitant tool for mutation screening in melanomas

por Uguen, Arnaud, Talagas, Matthieu, Costa, Sebastian, Samaison, Laura, Paule, Laure, Alavi, Zarrin, De Braekeleer, Marc, Le Marechal, Cédric, Marcorelles, Pascale
Publicado 2015

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

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

Low incidence of EPOR mutations in idiopathic erythrocytosis

por Filser, Mathilde, Aral, Bernard, Airaud, Fabrice, Chauveau, Aurélie, Bruce, Aisha, Polfrit, Yann, Thiebaut, Anne, Gauthier, Martin, Le Maréchal, Cédric, Lippert, Eric, Béziau, Stéphane, Garrec, Céline, Gardie, Betty, Girodon, François
Publicado 2020

Evidence for the High Importance of Co-Morbid Factors in HFE C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study

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

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

por Guéguen, Paul, Rouault, Karen, Chen, Jian-Min, Raguénès, Odile, Fichou, Yann, Hardy, Elisabeth, Gobin, Eric, Pan-petesch, Brigitte, Kerbiriou, Mathieu, Trouvé, Pascal, Marcorelles, Pascale, Abgrall, Jean-francois, Le Maréchal, Cédric, Férec, Claude
Publicado 2013

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

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