Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Anne-Claire Bréhin"'
Autor:
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Bordeaux-cohort collaborators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue
Externí odkaz:
https://doaj.org/article/d0fc9cf40c2a4de0a8134ace8ab5266e
Autor:
Ivana Dabaj, Justine Ferey, Florent Marguet, Vianney Gilard, Carole Basset, Youssef Bahri, Anne-Claire Brehin, Catherine Vanhulle, France Leturcq, Stéphane Marret, Annie Laquerrière, Isabelle Schmitz-Afonso, Carlos Afonso, Soumeya Bekri, Abdellah Tebani
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Duchenne muscular dystrophy (DMD) is a common and severe X-linked myopathy, characterized by muscle degeneration due to altered or absent dystrophin. DMD has no effective cure, and the underlying molecular mechanisms remain incompletely unde
Externí odkaz:
https://doaj.org/article/4bbe05a2564546d587ec33684edcfc33
Autor:
Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
Externí odkaz:
https://doaj.org/article/b54e5dd456704f24879c40fac9d912e1
Autor:
Minh-Tuan Huynh, Stéphanie Potel, Sophie Degre, Anne Panchout, Cathy Bréon, Detlef Trost, Alexis Proust, Jérôme Bouligand, Anne-Claire Bréhin, Sophie Patrier-Sallebert, Aicha Boughalem
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100668- (2023)
Externí odkaz:
https://doaj.org/article/fd74b68496c7493fa86855279094e13c
Autor:
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria and nephrocalcinos
Externí odkaz:
https://doaj.org/article/01ccaa0afe074cfb9d51e0a01c8dc7b5
Autor:
Isabelle Schuffenecker, Isabelle Iteman, Alain Michault, Séverine Murri, Lionel Frangeul, Marie-Christine Vaney, Rachel Lavenir, Nathalie Pardigon, Jean-Marc Reynes, François Pettinelli, Leon Biscornet, Laure Diancourt, Stéphanie Michel, Stéphane Duquerroy, Ghislaine Guigon, Marie-Pascale Frenkiel, Anne-Claire Bréhin, Nadège Cubito, Philippe Desprès, Frank Kunst, Félix A Rey, Hervé Zeller, Sylvain Brisse
Publikováno v:
PLoS Medicine, Vol 3, Iss 7, p e263 (2006)
BackgroundA chikungunya virus outbreak of unprecedented magnitude is currently ongoing in Indian Ocean territories. In Réunion Island, this alphavirus has already infected about one-third of the human population. The main clinical symptom of the dis
Externí odkaz:
https://doaj.org/article/ee8541a6393444fb982fd7eae5c51499
Autor:
Philippe Orcel, Murielle Michel, Anne-Claire Bréhin, Nathalie Leon, Quitterie Rochoux, Christian Marcelli
Publikováno v:
Revue du Rhumatisme. 85:304-306
Autor:
Christian Marcelli, Philippe Orcel, Anne-Claire Bréhin, Murielle Michel, Quitterie Rochoux, Nathalie Leon
Publikováno v:
Joint Bone Spine
Joint Bone Spine, Elsevier Masson, 2018, 85 (4), pp.493-494. ⟨10.1016/j.jbspin.2017.05.025⟩
Joint Bone Spine, Elsevier Masson, 2018, 85 (4), pp.493-494. ⟨10.1016/j.jbspin.2017.05.025⟩
Joint Bone Spine - In Press.Proof corrected by the author Available online since mardi 11 juillet 2017
Autor:
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French nat
Externí odkaz:
https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602
Autor:
Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion
Publikováno v:
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the high genetic heterogeneity of ASD i
Externí odkaz:
https://doaj.org/article/8b9cf6cb671e43d4a092d47799fdef90