| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mona D Shahbazian, Huda Y Zoghb. Rett syndrome and MeCP2: linking epigenetics and neuronal function. American journal of human genetics. vol 71. issue 6. 2003-01-23. PMID:12442230. |
rett syndrome and mecp2: linking epigenetics and neuronal function. |
2003-01-23 |
2023-08-12 |
Not clear |
| Robert Maiwald, Anselm Bönte, Helena Jung, Pavel Bitter, Zoe Storm, Franco Laccone, Peter Herkenrat. De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. Neurogenetics. vol 4. issue 2. 2003-01-23. PMID:12481990. |
de novo mecp2 mutation in a 46,xx male patient with rett syndrome. |
2003-01-23 |
2023-08-12 |
Not clear |
| Hong Pan, Yan-Ping Wang, Xing-Hua Bao, Hong-Di Meng, Yan Zhang, Xi-Ru Wu, Yan She. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. European journal of human genetics : EJHG. vol 10. issue 8. 2003-01-22. PMID:12111643. |
mecp2 gene mutation analysis in chinese patients with rett syndrome. |
2003-01-22 |
2023-08-12 |
Not clear |
| S G Vorsanova, V Iu Ulas, Iu B Iurov, M L Giovanucci-Uzielli, I A Demidova, L Gianti, L Villard, I Iu Iurov, A K Beresheva, P V Noviko. [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 102. issue 10. 2003-01-16. PMID:12449561. |
rett syndrome (rtt) is a severe neurodevelopmental disorder caused by mutations in methyl-cpg-binding protein 2 gene (mecp2). |
2003-01-16 |
2023-08-12 |
Not clear |
| Matthew Tudor, Schahram Akbarian, Richard Z Chen, Rudolf Jaenisc. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proceedings of the National Academy of Sciences of the United States of America. vol 99. issue 24. 2003-01-14. PMID:12432090. |
the mecp2 gene has been shown to be mutated in most cases of human rett syndrome, and mouse models deleted for the ortholog have been generated. |
2003-01-14 |
2023-08-12 |
mouse |
| Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, Edwin Reyniers, R Frank Koo. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Human mutation. vol 20. issue 4. 2003-01-03. PMID:12325019. |
mutations in the methyl-cpg-binding protein 2 (mecp2) cause rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. |
2003-01-03 |
2023-08-12 |
Not clear |
| Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, Edwin Reyniers, R Frank Koo. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Human mutation. vol 20. issue 4. 2003-01-03. PMID:12325019. |
male patients with rett syndrome are extremely rare, as the rett-causing mutations in the mecp2 gene are usually lethal in hemizygous males. |
2003-01-03 |
2023-08-12 |
Not clear |
| Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, Avi Orr-Urtrege. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Human mutation. vol 20. issue 4. 2003-01-03. PMID:12325033. |
mecp2 mutations in israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in rett syndrome. |
2003-01-03 |
2023-08-12 |
Not clear |
| Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, Avi Orr-Urtrege. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Human mutation. vol 20. issue 4. 2003-01-03. PMID:12325033. |
this report describes molecular analysis of the mecp2 gene in 37 israeli patients suspected of having rett syndrome (rtt). |
2003-01-03 |
2023-08-12 |
Not clear |
| Thierry Bienvenu, Laurent Villard, Nicolas De Roux, Violaine Bourdon, Michel Fontes, Cherif Beldjord, Marc Tardieu, Philippe Jonveaux, Jamel Chell. Spectrum of MECP2 mutations in Rett syndrome. Genetic testing. vol 6. issue 1. 2002-12-10. PMID:12180070. |
spectrum of mecp2 mutations in rett syndrome. |
2002-12-10 |
2023-08-12 |
Not clear |
| Thierry Bienvenu, Laurent Villard, Nicolas De Roux, Violaine Bourdon, Michel Fontes, Cherif Beldjord, Marc Tardieu, Philippe Jonveaux, Jamel Chell. Spectrum of MECP2 mutations in Rett syndrome. Genetic testing. vol 6. issue 1. 2002-12-10. PMID:12180070. |
mutations in the mecp2 (methyl-cpg-binding protein) gene recently have been reported to cause rett syndrome (rtt), an x-linked progressive encephalopathy. |
2002-12-10 |
2023-08-12 |
Not clear |
| Kim S Beyer, Francesca Blasi, Elena Bacchelli, Sabine M Klauck, Elena Maestrini, Annemarie Poustk. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Human genetics. vol 111. issue 4-5. 2002-12-10. PMID:12384770. |
mutations in the coding region of the methyl-cpg-binding protein 2 ( mecp2) gene cause rett syndrome and have also been reported in a number of x-linked mental retardation syndromes. |
2002-12-10 |
2023-08-12 |
Not clear |
| Hong Pan, Yanping Wang, Hongdi Meng, Xinhua Bao, Yan Zhang, Yan Shen, Xiru W. [Mutational analysis of MECP2 gene in Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 19. issue 4. 2002-10-01. PMID:12170461. |
[mutational analysis of mecp2 gene in rett syndrome]. |
2002-10-01 |
2023-08-12 |
Not clear |
| Hong Pan, Yanping Wang, Hongdi Meng, Xinhua Bao, Yan Zhang, Yan Shen, Xiru W. [Mutational analysis of MECP2 gene in Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 19. issue 4. 2002-10-01. PMID:12170461. |
to investigate mutations of mecp2 gene in classical sporadic rett syndrome (rtt) patients in china. |
2002-10-01 |
2023-08-12 |
Not clear |
| T Kleefstra, H G Yntema, A R Oudakker, T Romein, E Sistermans, W Nillessen, H van Bokhoven, B B A de Vries, B C J Hame. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clinical genetics. vol 61. issue 5. 2002-09-24. PMID:12081720. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene, with apparent lethality in male embryos. |
2002-09-24 |
2023-08-12 |
Not clear |
| F Xiang, Y Stenbom, M Anvre. MECP2 mutations in Swedish Rett syndrome clusters. Clinical genetics. vol 61. issue 5. 2002-09-24. PMID:12081725. |
mecp2 mutations in swedish rett syndrome clusters. |
2002-09-24 |
2023-08-12 |
Not clear |
| Bruria Ben Zeev, Yuval Yaron, N Carolyn Schanen, Haika Wolf, Nathan Brandt, Nathan Ginot, Ruth Shomrat, Avi Orr-Urtrege. Rett syndrome: clinical manifestations in males with MECP2 mutations. Journal of child neurology. vol 17. issue 1. 2002-09-03. PMID:11913564. |
rett syndrome: clinical manifestations in males with mecp2 mutations. |
2002-09-03 |
2023-08-12 |
Not clear |
| Bruria Ben Zeev, Yuval Yaron, N Carolyn Schanen, Haika Wolf, Nathan Brandt, Nathan Ginot, Ruth Shomrat, Avi Orr-Urtrege. Rett syndrome: clinical manifestations in males with MECP2 mutations. Journal of child neurology. vol 17. issue 1. 2002-09-03. PMID:11913564. |
with the recent discovery that the mecp2 gene is responsible for most cases of rett syndrome, it is possible to molecularly assess cases of affected males by direct sequencing analysis. |
2002-09-03 |
2023-08-12 |
Not clear |
| Jong Hee Chae, Yong Seung Hwang, Ki Joong Ki. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. Journal of child neurology. vol 17. issue 1. 2002-09-03. PMID:11913567. |
mutation analysis of mecp2 and clinical characterization in korean patients with rett syndrome. |
2002-09-03 |
2023-08-12 |
Not clear |
| Jong Hee Chae, Yong Seung Hwang, Ki Joong Ki. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. Journal of child neurology. vol 17. issue 1. 2002-09-03. PMID:11913567. |
recently, mutations in the mecp2 gene on xq28, which encodes methyl-cpg binding protein 2, were identified as responsible for some cases of rett syndrome. |
2002-09-03 |
2023-08-12 |
Not clear |