Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Marie-Claire Vincent"'
Autor:
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie-Claire Vincent
Publikováno v:
Brain : a journal of neurology. 145(11)
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ae48c323309fe64e18d4bba23c3af0
https://pubmed.ncbi.nlm.nih.gov/35883251
https://pubmed.ncbi.nlm.nih.gov/35883251
Autor:
Aleksandra Nadaj-Pakleza, Lucas Corti, Hélène Puccio, Mathieu Anheim, Jamel Chelly, Cecilia Marelli, Julien Tarabeux, Nicolas Dondaine, Nadège Diedhiou, Odile Gebus, Marilyne Almeras, Pauline Fahrer, Cécile Cauquil, Jean-Baptiste Chanson, Béatrice Lannes, Laura Robelin, Marie Claire Vincent, Mehdi Benkirane, Guillaume Taieb, Christine Tranchant, Gabrielle Rudolf, Matthieu Canuet, Andoni Echaniz-Laguna, Lise Larrieu, Solveig Montaut, Benoit Lhermitte
Publikováno v:
Journal of Neurology.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f95fc877c929ba0614a59f2502a73ce
https://doi.org/10.1007/s00415-021-10499-5
https://doi.org/10.1007/s00415-021-10499-5
Autor:
Solveig, Montaut, Nadège, Diedhiou, Pauline, Fahrer, Cécilia, Marelli, Benoit, Lhermitte, Laura, Robelin, Marie Claire, Vincent, Lucas, Corti, Guillaume, Taieb, Odile, Gebus, Gabrielle, Rudolf, Julien, Tarabeux, Nicolas, Dondaine, Matthieu, Canuet, Marilyne, Almeras, Mehdi, Benkirane, Lise, Larrieu, Jean-Baptiste, Chanson, Aleksandra, Nadaj-Pakleza, Andoni, Echaniz-Laguna, Cécile, Cauquil, Béatrice, Lannes, Jamel, Chelly, Mathieu, Anheim, Hélène, Puccio, Christine, Tranchant
Publikováno v:
Journal of neurology. 268(9)
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3f7002d60d223f8e6490c246c50d181
https://pubmed.ncbi.nlm.nih.gov/33666721
https://pubmed.ncbi.nlm.nih.gov/33666721
Autor:
Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry
Publikováno v:
Scientific Reports
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebe4f6b46e24a815ff56ed8a16e2bd2
http://europepmc.org/articles/PMC7300110
http://europepmc.org/articles/PMC7300110
Autor:
Claire Guissart, Victoria Viart, Eric Bieth, Anne Girardet, Cécile Rouzier, Marie-Claire Vincent, Vanessa Debant, Mireille Claustres, Philippe Khau Van Kien, Emmanuelle Haquet, Caroline Raynal, Marie-Pierre Brechard, Frédéric Tran Mau Them, Michel Koenig, Jacques Puechberty, Charlotte Dubucs, Victoria Pritchard, Amandine Boureau-Wirth
Publikováno v:
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩
Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a univ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243e143fc178a947bc04165f5bebd52
https://hal.umontpellier.fr/hal-02434874
https://hal.umontpellier.fr/hal-02434874
Autor:
D. Dupin Deguine, C. Dubucs, Mireille Claustres, A. Girardet, P. Khau Van Kien, C. Rouzier, Marie-Pierre Brechard, F. Tran Mau Them, Michel Koenig, Amandine Boureau-Wirth, Marie-Claire Vincent, Vanessa Debant, Eric Bieth, Claire Guissart, Emmanuelle Haquet, Jacques Puechberty, C. Raynal, Victoria Pritchard
Publikováno v:
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2017, 16 (2), pp.198-206. ⟨10.1016/j.jcf.2016.12.011⟩
Journal of Cystic Fibrosis, Elsevier, 2017, 16 (2), pp.198-206. ⟨10.1016/j.jcf.2016.12.011⟩
International audience; BACKGROUND:Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d62f39c6e0b4126705f338fc37386de
https://hal.archives-ouvertes.fr/hal-01792996
https://hal.archives-ouvertes.fr/hal-01792996
Autor:
Z. Azher, Gema García-García, L. Lambert, B. Isidor, Christel Vaché, M. Moclyn, M. Mondain, M. Nizon, Marie-Claire Vincent, David Baux, R. Touraine, C. Calais, Y. Perdomo-Trujillo, Anne-Françoise Roux, Corinne Baudoin, F. Giuliano, Mireille Claustres, D. Dupin-Deguine, Sandra Mercier, Marjolaine Willems, Michel Koenig, Valérie Faugère, Christophe Blanchet
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7, pp.16783. ⟨10.1038/s41598-017-16846-9⟩
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Scientific Reports, Nature Publishing Group, 2017, 7, pp.16783. ⟨10.1038/s41598-017-16846-9⟩
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd08997e5a6f868752ae59e02c0a4c93
https://hal.archives-ouvertes.fr/hal-01740192
https://hal.archives-ouvertes.fr/hal-01740192
Autor:
V. Humbertclaude, Christine Coubes, François Rivier, Marie-Claire Vincent, Sylvie Tuffery-Giraud, Déborah Méchin, Mireille Claustres, Aliya Ishmukhametova, Philippe Khau Van Kien, Delphine Thorel
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 20 (10), pp.1096-1100. ⟨10.1038/ejhg.2012.51⟩
European Journal of Human Genetics, Nature Publishing Group, 2012, 20 (10), pp.1096-1100. ⟨10.1038/ejhg.2012.51⟩
International audience; We report on the effectiveness of a custom-designed oligonucleotide-based comparative genomic hybridization microarray (array-CGH) to interrogate copy number across the entire 2.2-Mb genomic region of the DMD gene and its appl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc675a09193e61fd21a433e83a377e81
https://doi.org/10.1038/ejhg.2012.51
https://doi.org/10.1038/ejhg.2012.51
Autor:
Meriem Tazir, S. Assami, Kahina Medjber, Dalila Moualek, Gwenaëlle Collod-Béroud, Brahim Merrouche, Marie Claire Vincent
Publikováno v:
Revue Neurologique. 173:S151-S152
Introduction La dystonie est definie par une contraction musculaire anormale responsable de mouvements ou de postures anormales. La forme monogenique la plus frequente est la DYT1 liee au gene TOR1A. Objectifs Determiner la frequence de la dystonie D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03042d570cb4e98dda76eff695c50b13
https://doi.org/10.1016/j.neurol.2017.01.279
https://doi.org/10.1016/j.neurol.2017.01.279
Autor:
Géraldine Viot, Nicolas Chassaing, Ginisty D, Philippe Guigue, A. Smahi, Céline Cluzeau, Arnold Munnich, Patrick Calvas, Elodie Bal, Marie-Claire Vincent
Publikováno v:
British Journal of Dermatology. 162:1044-1048
Summary Background Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3ae2a69ecbc0acaf7d2d1e03b4f4685
https://doi.org/10.1111/j.1365-2133.2010.09670.x
https://doi.org/10.1111/j.1365-2133.2010.09670.x