Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hélène Ansart-Franquet"'
Autor:
Pierre Gressens, Louise Devisme, Hélène Ansart-Franquet, Marie-Eve Renard-Edun, Marie-Dominique Lamblin, Claude-Alain Maurage, Stéphane Auvin, Nadine Kacet, G. Soto-Ares
Publikováno v:
Brain and Development. 33:339-344
Background: Malformations of the cerebral cortex may be associated with severe epilepsy and status epilepticus. It has been shown that status epilepticus models induce excitotoxic cell death. In humans, very few data are available. Case and results:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241ad91e623dd397c4b351b94ac75f26
https://doi.org/10.1016/j.braindev.2010.04.005
https://doi.org/10.1016/j.braindev.2010.04.005
Autor:
Louise Devisme, Jun-ichi Takanashi, Hülya Kayserili, Frédéric Huet, Jelena Martinovic, Catherine Noël, Tania Attié-Bitach, Muriel Holder, Nadia El Khartoufi, Estelle Lopez, Cédric Le Caignec, Jean-Baptiste Rivière, Pascale Kleinfinger, Ferechté Razavi, Hélène Ansart-Franquet, Nadège Gigot, Brunella Franco, Magali Avila, Irahara Kaori, Didier Lacombe, Julien Thevenon, Martine Le Merrer, Bernard Aral, Stanislas Lyonnet, Christel Thauvin-Robinet, Véronique Darmency-Stamboul, Bruno Reversade, Yeliz Güven, Lydie Burglen, Laurence Faivre, Lena Ho, Mohammad Shboul
Publikováno v:
Human genetics, 133(3), 367-377. Springer Verlag
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7838c7e9039ef326fa2f88aada94b0
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
Autor:
Jamal, Ghoumid, Hélène, Ansart-Franquet, Damien, Subtil, Nelly, Pasz, Louise, Devisme, Jeanne, Amiel, Joris, Andrieux, Sylvie, Manouvrier-Hanu, Muriel, Holder-Espinasse
Publikováno v:
Prenatal diagnosis. 29(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c4b50f2305424e4345393b122bcfe93c
https://pubmed.ncbi.nlm.nih.gov/19650062
https://pubmed.ncbi.nlm.nih.gov/19650062
Autor:
Louise Devisme, Joris Andrieux, Nelly Pasz, Muriel Holder-Espinasse, Véronique Houfflin-Debarge, Jamal Ghoumid, Hélène Ansart-Franquet, Sylvie Manouvrier-Hanu
Publikováno v:
Prenatal diagnosis. 29(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952a6cd2040418cad1153ea89201284b
https://pubmed.ncbi.nlm.nih.gov/19180573
https://pubmed.ncbi.nlm.nih.gov/19180573
Autor:
Jeanne Amiel, Joris Andrieux, Muriel Holder-Espinasse, Damien Subtil, Jamal Ghoumid, Nelly Pasz, Louise Devisme, Sylvie Manouvrier-Hanu, Hélène Ansart-Franquet
Publikováno v:
Prenatal Diagnosis. 29:1064-1065
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8ecf3535c8b909d3610e941377e1b6e
https://doi.org/10.1002/pd.2338
https://doi.org/10.1002/pd.2338