Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Véronique Darmency-Stamboul"'
Autor:
Judith St-Onge, Julien Thevenon, S. El Chehadeh-Djebbar, Mathilde Lefebvre, F. Huet, Patrick Callier, A. Steinmetz, Mondher Chouchane, Jean-Baptiste Rivière, François Feillet, Alice Masurel-Paulet, Véronique Darmency-Stamboul, Christel Thauvin-Robinet, Yannis Duffourd, Laurence Faivre
Publikováno v:
Clinical Genetics. 89:700-707
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations and low-yield laborato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02761e759d992b8bf469ffd4bc007c8c
https://doi.org/10.1111/cge.12732
https://doi.org/10.1111/cge.12732
Autor:
Marie Hervieu-Bègue, Véronique Darmency-Stamboul, Mondher Souchane, Frédéric Huet, Apolline Kazemi, Maurice Giroud, Guy-Victor Osseby, Agnès Jacquin, Nassima Nezzal, Yannick Béjot
Publikováno v:
La Presse Médicale. 41:518-524
Key points Stroke in children is an important public health problem because, even if it is 10 folds less frequent than in adults, it may have severe consequences, related to the lack of dedicated stroke network in childhood. Therefore, it is importan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc348e1ee60339421c722bebf9e7de4b
https://doi.org/10.1016/j.lpm.2011.06.027
https://doi.org/10.1016/j.lpm.2011.06.027
Autor:
Benoit Daubail, Mondher Chouchane, Norbert Khayat, M. Giroud, Emelyne Muzard, Frédéric Huet, Maurice Giroud, Véronique Darmency-Stamboul, Yannick Béjot, Eric Berger, Elisabeth Medeiros de Bustos, Laurence Faivre, Alice Masurel, Thierry Moulin, Christel Thauvin-Robinet
Publikováno v:
European neurology. 73(1-2)
Background: This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f0bc94d2ad6bfb2d07fb766854b191b
https://pubmed.ncbi.nlm.nih.gov/25472600
https://pubmed.ncbi.nlm.nih.gov/25472600
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:
Yannis Duffourd, M Keddar, Pierre Vabres, J. St-Onge, D Rodriguez, C. Vincent-Delorme, Victoria E. R. Parker, A Arzimanoglou, B. Catteau, Laurence Faivre, Jean-Benoît Courcet, Patrick Callier, Jean-Baptiste Rivière, Rachel G. Knox, Jean-François Deleuze, Anne Boland, Groupe de recherche de la Sfdp, Laurent Guibaud, Véronique Darmency-Stamboul, Marc Delepine, David Geneviève, R Olaso, C Mignot, Didier Bessis, Robert K. Semple
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 142:S470-S471
Introduction L’hypomelanose d’Ito (HI) est definie par une hypopigmentation suivant les lignes de Blaschko, isolee ou associee a des manifestations principalement neurologiques. Nous rapportons ici une anomalie genetique en mosaique commune chez
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0bea2fa72654ac69d6fc2bda3c1af3c
https://doi.org/10.1016/j.annder.2015.10.096
https://doi.org/10.1016/j.annder.2015.10.096
Autor:
Sophie Chancenotte, Vincent Desportes, Marlène Bonnet, Salima El Chehadeh, Véronique Darmency-Stamboul, Fabienne Levy, Christel Thauvin-Robinet, Nicolas Lebrun, Jamel Chelly, Laurence Faivre, Hao Hu, Vera M. Kalscheuer, Alice Masurel-Paulet, Jean-Michel Pinoit, Julien Thevenon, Frédéric Huet, Marie Ruffier-Bourdet
Publikováno v:
American Journal of Medical Genetics Part A
Europe PubMed Central
Europe PubMed Central
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd299ef11276ec93437c4f3dd82de493
https://pubmed.ncbi.nlm.nih.gov/24357419
https://pubmed.ncbi.nlm.nih.gov/24357419
Autor:
N. Méjean, Nadège Gigot, Lydie Burglen, Estelle Lopez, Valérie Cormier-Daire, Didier Lacombe, Christel Thauvin-Robinet, John Dean, Marie Gonzales, Diana Rodriguez, Brunella Franco, Bérénice Doray, Melissa Crenshaw, Isabelle Desguerres, Patrick Callier, Laurent Pasquier, Tania Attié-Bitach, Frédéric Huet, Bernard Aral, Matthew Pastore, Véronique Darmency-Stamboul, Laurence Faivre
Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malforma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6468fc59250ebe607afef89232b3052d
http://hdl.handle.net/11588/560299
http://hdl.handle.net/11588/560299
Autor:
Maurice Giroud, Cyril Ferdynus, Paul Sagot, N. Méjean, Yannick Béjot, Corinne Chantegret, Jean Bernard Gouyon, Véronique Darmency-Stamboul, Christine Durand
Publikováno v:
Stroke; a Journal of Cerebral Circulation
Stroke; a Journal of Cerebral Circulation, 2012, 43 (9), pp.2307--2312. 〈10.1161/STROKEAHA.111.642181〉
Stroke; a Journal of Cerebral Circulation, 2012, 43 (9), pp.2307--2312. ⟨10.1161/STROKEAHA.111.642181⟩
Stroke; a Journal of Cerebral Circulation, 2012, 43 (9), pp.2307--2312. 〈10.1161/STROKEAHA.111.642181〉
Stroke; a Journal of Cerebral Circulation, 2012, 43 (9), pp.2307--2312. ⟨10.1161/STROKEAHA.111.642181⟩
Background and Purpose— Perinatal arterial ischemic stroke (PAIS) is a common cause of hemiplegic cerebral palsy in children. The diagnosis of PAIS is based on cerebral imaging. The objective of our study was to determine prenatal risk factors asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d329edc80c52c2517d142b0b63f0e5d8
http://hal.univ-reunion.fr/hal-01194218
http://hal.univ-reunion.fr/hal-01194218
Autor:
Véronique Darmency-Stamboul, Yannick Béjot, Maurice Giroud, Agnès Jacquin, Guy-Victor Osseby, Marie Hervieu-Bègue, Apolline Kazemi, Nassima Nezzal, Frédéric Huet, Mondher Souchane
Publikováno v:
La Presse Médicale. 41:1047-1048
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e4336489870ef537abadaef249d1b6
https://doi.org/10.1016/j.lpm.2012.06.003
https://doi.org/10.1016/j.lpm.2012.06.003
Autor:
Mondher Chouchane, Véronique Darmency-Stamboul, Maurice Giroud, Guy-Victor Osseby, Agnès Jacquin, Frédéric Huet, Yannick Béjot
Publikováno v:
Revue Neurologique. 168:A20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35e15465621b7196e459c1bd52c884e3
https://doi.org/10.1016/j.neurol.2012.01.046
https://doi.org/10.1016/j.neurol.2012.01.046