Zobrazeno 1 - 10 of 319 pro vyhledávání: '"G Raux"'
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Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients
Autor: Thierry Frebourg, Françoise Parmentier, Hervé Tilly, G Raux, Dominique Vaur, Xavier Troussard, Christophe Fruchart, Stéphane Leprêtre, Christian Bastard, D Penther, D Nagib, Mario Tosi
Publikováno v: Leukemia. 21:1460-1463
Four chromosomal defects associated with outcome are commonly evaluated by fluorescent in situ hybridization (FISH) in chronic lymphocytic leukemia (CLL), namely deletions of the 13q13-q14, 11q22 and 17p13 regions and trisomy 12. In this study, we co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b2e54e3e6e520269837e9996cd277a
https://doi.org/10.1038/sj.leu.2404727
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3
Deleterious mutations in exon 1 of MECP2 in Rett syndrome
Autor: Christophe Philippe, François Rivier, Michèle Mathieu, Saliha Yilmaz, Thierry Bienvenu, Aline Quenard, Vincent des Portes, Anne Moncla, Philippe Jonveaux, Hervé Fontaine, G Raux
Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩
European Journal of Medical Genetics, Elsevier, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩
European Journal of Medical Genetics, Elsevier, 2006, 49 (4), pp.313-22. 〈10.1016/j.ejmg.2005.11.002〉
International audience; The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c7622ae79da0de262556cc22a2840b
https://doi.org/10.1016/j.ejmg.2005.11.002
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4
Hyperprolinemia is a risk factor for schizoaffective disorder
Autor: Caroline Demily, A Tillaux, Thierry Frebourg, Michel Petit, Sonia Dollfus, Dominique Campion, Jean-François Ménard, J Lerond, G Raux, C Bellegou, Hélène Jacquet, Gabrielle Allio, Florence Thibaut, Emmanuelle Houy, Pascal Delamillieure, Sadeq Haouzir, Gaël Fouldrin, Jacqueline Bou, Thierry d'Amato, Bernadette Hecketsweiler
Publikováno v: Molecular Psychiatry. 10:479-485
DNA sequence variations within the 22q11 DiGeorge chromosomal region are likely to confer susceptibility to psychotic disorders. In a previous report, we identified several heterozygous alterations, including a complete deletion, of the proline dehyd
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7724c0919c5c3dbf3125d6b333d237a
https://doi.org/10.1038/sj.mp.4001597
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6
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation
Autor: Dominique Campion, Emmanuelle Deslandre, G Raux, Guillaume Lefebvre, Lucie Maréchal, Dominique Parain, Thierry Frebourg, Carole Girard, Cécile Dumanchin, Didier Hannequin
Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :114-117
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbfc542acbe1371ab25a94757f4d511e
https://doi.org/10.1002/ajmg.b.10062
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7
The −2 bp deletion in exon 6 of the ‘alpha 7-like’ nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit
Autor: Dominique Campion, Florence Thibaut, Michel Petit, Frédérique Bonnet-Brilhault, Emmanuelle Houy, G Raux, Gabrielle Allio, Maria Martinez, Thierry Frebourg, Sadeq Haouzir, S. Louchart, D. Levillain, R. Gantier
Publikováno v: Molecular Psychiatry. 7:1006-1011
Abnormality in the P50 auditory-evoked potential gating is an endophenotype associated with schizophrenia. Biochemical and genetic studies have suggested that the alpha 7 nicotinic acetylcholine receptor (nAChR) is involved in this sensory gating def
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c255e89d5feae12e0bd7b4e5eea255cb
https://doi.org/10.1038/sj.mp.4001140
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8
Association of KM Genotype with Bullous Pemphigoid
Autor: Marielle Christ, Philippe Martel, François Tron, Maryvonne Daveau, Danièle Gilbert, Pascal Joly, G Raux
Publikováno v: Journal of Autoimmunity. 14:79-82
Association of kappa light chain immunoglobulin allotypes with bullous pemphigoid was examined in 101 Caucasian patients. Km alleles were determined by polymerase chain reaction amplification followed by restriction enzyme digestion. The frequency of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c339753c8e1e13608138490a100e3120
https://doi.org/10.1006/jaut.1999.0345
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10
The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit
Autor: Caroline Demily, Dominique Campion, Sadeq Haouzir, Thierry Frebourg, A Belmont, Gaël Fouldrin, Emmanuelle Houy, G Raux, Michel Petit, Gabrielle Allio, Florence Thibaut
Publikováno v: Molecular Psychiatry. 9:320-322
As suggested by several studies, abnormal sensory gating measured by the P50 paradigm could be an endophenotype predisposing to schizophrenia. In a previous work, we have shown a significant association between the presence of at least one −2 bp de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927460aee0b97405b1aea361d2d9fe35
https://doi.org/10.1038/sj.mp.4001443
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