Zobrazeno 1 - 10
of 160
pro vyhledávání: '"D, Devys"'
Akademický článek
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Publikováno v:
Cell and Tissue Research
Cell and Tissue Research, 2021, 385 (1), pp.37-48. ⟨10.1007/s00441-021-03440-9⟩
Cell and Tissue Research, 2021, 385 (1), pp.37-48. ⟨10.1007/s00441-021-03440-9⟩
Bardet-Biedl syndrome protein 4 (BBS4) localization has been studied in human embryos/fetuses from Carnegie stage 15 to 37 gestational weeks in neurosensory organs and brain, underlying the major clinical signs of BBS. We observed a correlation betwe
Autor:
Sophie Rondeau, Charles Coutton, Pierre-Simon Jouk, Lydie Burglen, Alice Goldenberg, Bérénice Doray, Nathalie Marle, Séverine Drunat, Pascal Chambon, P. Callier, Thierry Bienvenu, F. Devillard, M.-L. Moutard, Danielle Martinet, Bernard Aral, Pascale Saugier-Veber, Nathalie Perreton, Marie-Claude Addor, Marguerite Miguet, Martine Doco-Fenzy, N. Le Meur, Anne-Marie Guerrot, J.-L. Alessandri, C. Thauvin-Robinet, R. Touraine, Anne-Claude Tabet, Anne-Laure Mosca-Boidron, S. El Chehadeh, D. Devys, Sébastien Lebon, Alexandra Afenjar, Sandra Chantot-Bastaraud, Laurence Faivre, Emilie Landais, Cathy Philippe, Klaus Dieterich, Valérie Kremer, Julien Thevenon, Véronique Satre, V. des Portes, Francine Mugneret, Willie Reardon, Fabienne Prieur
Publikováno v:
Clinical Genetics. 91:576-588
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an
Autor:
S, El Chehadeh, R, Touraine, F, Prieur, W, Reardon, T, Bienvenu, S, Chantot-Bastaraud, M, Doco-Fenzy, E, Landais, C, Philippe, N, Marle, P, Callier, A-L, Mosca-Boidron, F, Mugneret, N, Le Meur, A, Goldenberg, A-M, Guerrot, P, Chambon, V, Satre, C, Coutton, P-S, Jouk, F, Devillard, K, Dieterich, A, Afenjar, L, Burglen, M-L, Moutard, M-C, Addor, S, Lebon, D, Martinet, J-L, Alessandri, B, Doray, M, Miguet, D, Devys, P, Saugier-Veber, S, Drunat, B, Aral, V, Kremer, S, Rondeau, A-C, Tabet, J, Thevenon, C, Thauvin-Robinet, N, Perreton, V, Des Portes, L, Faivre
Publikováno v:
Clinical genetics. 91(4)
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an
Autor:
David T. Winkler, Andreas J. Steck, N. Willi, Markus Tolnay, T. Haufschild, M. J. Mihatsch, D. Devys, Alphonse Probst, Sven Haller, Philippe Lyrer
Publikováno v:
Journal of Neurology. 255:77-88
Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generatio
Autor:
Laurence Faivre, Delphine Héron, L. Van Maldergem, Anne Donzel, Veronica Cusin, D. Devys, Christel Thauvin-Robinet, Annick Toutain, Yves Alembik, Paul Sagot, Geert Mortier, Valérie Layet, Eric Bieth, Mireille Cossée, Valérie Cormier-Daire, Jean-Raymond Teyssier, Albert David, Philippe Parent, Alice Goldenberg, A M Bouvier, Frédéric Huet
Publikováno v:
Journal of Medical Genetics. 43:54-61
Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, a
Akademický článek
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Publikováno v:
EMC 2008 14th European Microscopy Congress 1–5 September 2008, Aachen, Germany ISBN: 9783540852278
The spinocerebellar ataxia SCA7 is a polyglutamine (polyQ) expansion disease in which the retina is affected and results in blindness. Ataxin-7 (ATXN7), the protein mutated in SCA7, is a subunit of the hSAGA complex. The hSAGA coactivator is known to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21a834a46a933546e7ed5a6ff0055388
https://doi.org/10.1007/978-3-540-85228-5_159
https://doi.org/10.1007/978-3-540-85228-5_159
Publikováno v:
Neurodegenerative Disorders: Loss of Function Through Gain of Function ISBN: 9783642074486
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b3869295a89f317bb80ea4905f7076b
https://doi.org/10.1007/978-3-662-04399-8_3
https://doi.org/10.1007/978-3-662-04399-8_3
Akademický článek
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