Zobrazeno 1 - 10
of 50
pro vyhledávání: '"David Baux"'
Autor:
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-16 (2023)
Abstract SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) alt
Externí odkaz:
https://doaj.org/article/6a70fd35d3034a74859689ebbe00f9a6
Autor:
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossée
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7330 (2023)
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as targeted sequencing, in order to be fully adopted. However, no clear recommendations or methodology have emerged for evaluating this t
Externí odkaz:
https://doaj.org/article/327853dbd7994c58bb6fca18d657760b
Autor:
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne-Françoise Roux, Vasiliki Kalatzis
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 156-173 (2020)
Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by retinitis pigmentosa (RP) and hearing loss. USH is clinically and genetically h
Externí odkaz:
https://doaj.org/article/e63ae021638f425891097daa81480622
Autor:
Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicate
Externí odkaz:
https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e
Autor:
Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 207 (2022)
GSDME, also known as DFNA5, is a gene implicated in autosomal dominant nonsyndromic hearing loss (ADNSHL), affecting, at first, the high frequencies with a subsequent progression over all frequencies. To date, all the GSDME pathogenic variants associ
Externí odkaz:
https://doaj.org/article/1a0d5f9b33f8483ba90ee067fe0abd44
Autor:
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13294 (2021)
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two m
Externí odkaz:
https://doaj.org/article/60bf793686c64932a496b57b4a231434
Autor:
Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems
Publikováno v:
Diagnostics, Vol 11, Iss 9, p 1636 (2021)
We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and
Externí odkaz:
https://doaj.org/article/e6a6cf451298483093b82e2edbc31bdc
Autor:
Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 30-43 (2014)
Abstract We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a h
Externí odkaz:
https://doaj.org/article/b950ebe4483b4138a4518e0fbe7b6143
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
Autor:
Christel Vaché, Nicolas Cubedo, Luke Mansard, Jérôme Sarniguet, David Baux, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Renaud Touraine, Geneviève Lina-Granade, Mireille Cossée, Anne Bergougnoux, Vasiliki Kalatzis, Mireille Rossel, Anne-Françoise Roux
Publikováno v:
European Journal of Human Genetics.
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