Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Benoit Mazel"'
Autor:
Benoit Mazel, Geoffrey Bertolone, Amandine Baurand, Elodie Cosset, Caroline Sawka, Marion Robert, Elodie Gautier, Allan Lançon, Manon Réda, Laure Favier, Valentin Dérangère, Corentin Richard, Christine Binquet, Romain Boidot, Vincent Goussot, Juliette Albuisson, François Ghiringhelli, Laurence Faivre, Sophie Nambot
Publikováno v:
Cancer Medicine, Vol 12, Iss 18, Pp 18786-18796 (2023)
Abstract Introduction With the emergence of targeted therapies, there is a need to accurately identify more tumor biomarkers. The EXOMA trial was designed to offer tumor and germline exome sequencing (ES) to patients with solid malignant tumors and f
Externí odkaz:
https://doaj.org/article/1d715b84577b4084b82c16565b999548
Autor:
Benoit Mazel, Delphine Mallet, Florence Roucher‐Boulez, Candace Ben Signor, Marie Bournez, Véronique Darmency, Valentin Bourgeois, Charlotte Poe, Fares El Khabbaz, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Sophie Nambot
Publikováno v:
American Journal of Medical Genetics Part A. 188:3540-3545
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Autor:
Antonio Vitobello, Benoit Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, Vincenzo Salpietro, Robert Meyer, Miriam Elbracht, Ingo Kurth, Thomas Eggermann, Ouafa Benlaouer, Gurprit Lall, Alexander G. Tonevitsky, Daryl A. Scott, Katie M. Chan, Jill A. Rosenfeld, Sophie Nambot, Hana Safraou, Ange-Line Bruel, Anne-Sophie Denommé-Pichon, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, Hui Guo, Andrea K. Petersen, Leslie Granger, Amy Crunk, Allan Bayat, Pasquale Striano, Federico Zara, Marcello Scala, Quentin Thomas, Andrée Delahaye, Jean-Madeleine de Sainte Agathe, Julien Buratti, Serguei V. Kozlov, Laurence Faivre, Christel Thauvin-Robinet, Yuri Ushkaryov
Publikováno v:
Am J Hum Genet
ADGRL1/latrophilin-1, a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe 10 individuals with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd4a155399f4d282e04e1b905624a55