Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Olivier Ardouin"'
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; Volume 24; Issue 8; Pages: 7330
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a0bb1c9a7b1e4076b29a10dfbb190c4
https://doi.org/10.3390/ijms24087330
https://doi.org/10.3390/ijms24087330
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:
Anne Bergougnoux, Anne-Françoise Roux, Michel Koenig, Olivier Ardouin, David Baux, Charles Van Goethem, Thomas Guignard
Publikováno v:
Eur J Hum Genet
MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3d2a453ba42df59fcaa8af90eb1d2d
https://europepmc.org/articles/PMC7868358/
https://europepmc.org/articles/PMC7868358/
Autor:
Thomas Guignard, Michel Koenig, Anne Bergougnoux, Olivier Ardouin, David Baux, Charles Van Goethem, Anne-Françoise Roux
Publikováno v:
European Journal of Human Genetics. 29:361-361
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a719e691992de8f6854d0b8423e58d4
https://doi.org/10.1038/s41431-020-00789-3
https://doi.org/10.1038/s41431-020-00789-3
Autor:
Renaud Legouis, Brigitte David-Watine, Jean-Pierre Hardelin, Henri Korn, Christine Petit, Olivier Ardouin, Laurent Fasano
Publikováno v:
Mechanisms of Development. 90:89-94
The gene underlying X chromosome-linked Kallmann syndrome, KAL-1, has been identified for several years, yet its role in development is still poorly understood. In order to take advantage of the zebrafish as a model in developmental genetics, we isol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e76b5c2149262625ed6b7d7843645e
https://doi.org/10.1016/s0925-4773(99)00222-1
https://doi.org/10.1016/s0925-4773(99)00222-1
Autor:
Olivier Ardouin
Publikováno v:
Biofutur. 1998:28-31
Lors des essais de therapie genique, l'efficacite du transfert du « gene-medicament » est souvent encore trop faible pour entrevoir des effets therapeutiques a court terme. D'ou la necessite de perfectionner les « vecteurs » de genes et d'en inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1e41a8c8b79d9c28e5f7332af16f80d
https://doi.org/10.1016/s0294-3506(98)80083-5
https://doi.org/10.1016/s0294-3506(98)80083-5
Autor:
Jacqueline Levilliers, Olivier Ardouin, Renaud Legouis, Jean-Pierre Hardelin, Christine Petit, Martine Cohen-Salmon, Nadia Soussi-Yanicostas
Publikováno v:
Annales de l'Institut Pasteur/Actualités
Annales de l'Institut Pasteur/Actualités, 1995, 6 (4), pp.282-291. ⟨10.1016/0924-4204(96)83385-3⟩
Annales de l'Institut Pasteur/Actualités, 1995, 6 (4), pp.282-291. ⟨10.1016/0924-4204(96)83385-3⟩
International audience; Le syndrome de Kallmann de Morsier associe une anosmie (deficit de l'olfaction) a un hypogonadisme. L'hypogonadisme est dû a un deficit en GnRH, hormone hypothalamique qui contrôle via l'hypophyse le développement pubertair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b244a776c4b9a2db608c4cd6106ef305
https://doi.org/10.1016/0924-4204(96)83385-3
https://doi.org/10.1016/0924-4204(96)83385-3
Autor:
Renaud Legouis, Olivier Ardouin, J.-P. Hardelin, François Traincard, Christine Petit, L. Cabanie, Nadia Soussi-Yanicostas, Maria del Mar Arroyo-Jimenez, J.M. Betton, Jacqueline Levilliers
Publikováno v:
Scopus-Elsevier
ResearcherID
Europe PubMed Central
ResearcherID
Europe PubMed Central
The KAL gene is responsible for the X-chromosome linked form of Kallmann's syndrome in humans. Upon transfection of CHO cells with a human KAL cDNA, the corresponding encoded protein, KALc, was produced. This protein is N-glycosylated, secreted in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d1f5cdfcba7f1bd05fb425960e1ae9
https://pubmed.ncbi.nlm.nih.gov/8832397
https://pubmed.ncbi.nlm.nih.gov/8832397