Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Marie Laure Mathieu"'
Autor:
Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutati
Externí odkaz:
https://doaj.org/article/5729d532dd9647dfafac61eb5dbf6537
Akademický článek
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Autor:
Laure Le Goff, Andreea Seferian, Aurelie Phelep, Pascal Rippert, Marie-Laure Mathieu, Claude Cances, Capucine de Lattre, Julien Durigneux, Gaelle Gousse, Dominique Vincent-Genod, Shams Ribault, Marta Gómez García de la Banda, Susana Quijano-Roy, Catherine Sarret, Laurent Servais, Carole Vuillerot
Publikováno v:
Neurological Sciences. 44:1139-1139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57abefc083f9aa071843feb8599cf953
https://doi.org/10.1007/s10072-022-06522-w
https://doi.org/10.1007/s10072-022-06522-w
Autor:
Patrick Edery, Flavie Diguet, Mathilde Fretigny, Claire Bardel, Audrey Labalme, Yohann Jourdy, Marie-Laure Mathieu, Caroline Schluth-Bolard, Pierre-Antoine Rollat-Farnier, Christine Vinciguerra, Damien Sanlaville
Publikováno v:
Haemophilia : the official journal of the World Federation of HemophiliaREFERENCES. 28(1)
Introduction Depending on the location of insertion of the gained region, F8 duplications can have variable clinical impacts from benign impact to severe haemophilia A phenotype. Aim To characterize two large Xq28 duplications involving F8 incidental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c751f13fa049da6b32bd4b748e7dfb5d
https://pubmed.ncbi.nlm.nih.gov/34480810
https://pubmed.ncbi.nlm.nih.gov/34480810
Autor:
Marina Trivisano, Julien Jung, Lieven Lagae, Marco Tartaglia, Nathalie Villeneuve, Berge A. Minassian, Ilaria Guella, Ruo Ming Shi, Luca De Palma, Gregory M. Cooper, Alessandro Ferretti, Michelle L. Thompson, Ingrid E. Scheffer, Eri Takeshita, Antonio Novelli, Gunnar M. Buyse, Michelle Demos, Alessandra Terracciano, Linda Huh, Federico Vigevano, Tomoko Kobayashi, Laurent Villard, Atsuo Kikuchi, Ryo Takeguchi, Gaetan Lesca, Maryline Carneiro, E. M. Bebin, Marie Laure Mathieu, Nicola Specchio, Mathieu Milh, Kazuhiro Haginoya, Aleksandra Siekierska, Nicola Pietrafusa
Publikováno v:
Epilepsia
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩
International audience; Objective: Fibroblast-growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 gene encodes a cytosolic protein that interacts with neuronal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4d1a11078ecaf1ba0275c15ca52819
https://hal-amu.archives-ouvertes.fr/hal-03149027
https://hal-amu.archives-ouvertes.fr/hal-03149027
Autor:
Laurine Perrin, Sha Tang, Brandon S. Guida, Tjitske Kleefstra, Marjolein H. Willemsen, Heather Stickney, Michael C. Kruer, Keri Ramsey, Heather C Mefford, Lynette G. Sadleir, Bobby P. C. Koeleman, Evelyn Sattlegger, Angela E. Lin, Sara A. Lewis, Marcello Scala, Sergio Padilla-Lopez, Luis O. Rohena, Joaquim Sa, Marie Laure Mathieu, Floor E. Jansen, Joy Y. Sebe, David W. Raible, Giorgio Casari, Gemma L. Carvill, Ingrid E. Scheffer, Paul A. Caruso, Robert Huether, Mariasavina Severino, Candace T. Myers, Eva H. Brilstra, Ashwin A. Bhandiwad, Katherine L. Helbig, Somayeh Bakhtiari, Sehribani Ulusoy Oktay, Gaetan Lesca, Vinodh Narayanan, Georgina Hollingsworth, Tyler N. Kruer, Christel Depienne, Valeria Capra, Pasquale Striano, Timothy Feyma, Deepak Gill, Andrea Accogli, Caroline Nava
Publikováno v:
Human Mutation, 41, 1263-1279
Hum Mutat
Human Mutation, 41, 7, pp. 1263-1279
Hum Mutat
Human Mutation, 41, 7, pp. 1263-1279
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e68c0ca7cd77205fa430c998b92475c
http://hdl.handle.net/2066/220053
http://hdl.handle.net/2066/220053
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Marie Laure Mathieu, Damien Sanlaville, Gaetan Lesca, Dorothée Ville, Audrey Labalme, Alice Poisson, Caroline Demily, Nicolas Chatron, Pierre Fourneret
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239918c982a318fdb6ddfc659830204f
https://pubmed.ncbi.nlm.nih.gov/31914951
https://pubmed.ncbi.nlm.nih.gov/31914951
Autor:
Vincent des Portes, Julitta de Bellescize, Vincent Flurin, Karine Ostrowsky, Marie-Laure Mathieu, Nicolas Chatron, Audrey Labalme, Alexis Arzimanoglou, Marianne Till, Gaetan Lesca, Nicole Chemaly, Damien Sanlaville
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22(6)
Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. Electrical status epilepticus in sleep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f342918368498c430b5b9f6fe7563de5
https://pubmed.ncbi.nlm.nih.gov/30126759
https://pubmed.ncbi.nlm.nih.gov/30126759
Autor:
Massimiliano Rossi, Sandra Chantot-Bastaraud, Audrey Labalme, Patrick Edery, Jaume Catala-Mora, Marion Gérard, Marie-Laure Mathieu, Alexandra Afenjar, Pierre-Simon Jouk, Joris Andrieux, Cyril Mignot, Caroline Demily, Damien Sanlaville
Publikováno v:
American journal of medical genetics. Part A. 173(8)
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::170984f64b8c48d2a7fc59cc63a91da8
https://pubmed.ncbi.nlm.nih.gov/28599093
https://pubmed.ncbi.nlm.nih.gov/28599093