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Brief Report: Systematic Review of Rett Syndrome in Males / Brian REICHOW in Journal of Autism and Developmental Disorders, 45-10 (October 2015)
[article]
Titre : Brief Report: Systematic Review of Rett Syndrome in Males Type de document : Texte imprimé et/ou numérique Auteurs : Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur Article en page(s) : p.3377-3383 Langues : Anglais (eng) Mots-clés : Rett syndrome Rett’s syndrome RTT Male Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268
in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383[article] Brief Report: Systematic Review of Rett Syndrome in Males [Texte imprimé et/ou numérique] / Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur . - p.3377-3383.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383
Mots-clés : Rett syndrome Rett’s syndrome RTT Male Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268 Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome / D. HETTIARACHCHI in Journal of Autism and Developmental Disorders, 50-1 (January 2020)
[article]
Titre : Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur Article en page(s) : p.118-126 Langues : Anglais (eng) Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126[article] Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome [Texte imprimé et/ou numérique] / D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur . - p.118-126.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126
Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414