| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Masaya Segawa, Toyojiro Matsuish. [Rett syndrome: correlation of clinical symptoms and the mutations in the gene of methyl CPG binding protein 2 (MeCP2): introductory remarks]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030006. |
[rett syndrome: correlation of clinical symptoms and the mutations in the gene of methyl cpg binding protein 2 (mecp2): introductory remarks]. |
2002-05-31 |
2023-08-12 |
Not clear |
| Masaya Segawa, Toyojiro Matsuish. [Rett syndrome: correlation of clinical symptoms and the mutations in the gene of methyl CPG binding protein 2 (MeCP2): introductory remarks]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030006. |
pathophysiology of rett syndrome is discussed in relation to the mecp2 gene. |
2002-05-31 |
2023-08-12 |
Not clear |
| Masayuki Itoh, Sachio Takashim. [Neuropathology and immunohistochemistry of brains with Rett syndrome]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030009. |
to clarify critical lesions and pathomechanism of rett syndrome (rtt), we studied the followings: (1) neuropathological observation of rtt, (2) comparison of neurotransmitter expression between rtt and controls, and developmental immunohistology of mecp2, the product of the causative gene of rtt in control brains using the abc immunohistochemical technique. |
2002-05-31 |
2023-08-12 |
Not clear |
| Ikuko Kondo, Hidehisa Yamagat. [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030010. |
[mutation spectrum and genotype-phenotype correlation of mecp2 in patients with rett syndrome]. |
2002-05-31 |
2023-08-12 |
Not clear |
| Shinichi Kud. [Functional significance of MeCP2 mutations in patients with Rett syndrome]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030011. |
[functional significance of mecp2 mutations in patients with rett syndrome]. |
2002-05-31 |
2023-08-12 |
mouse |
| Shinichi Kud. [Functional significance of MeCP2 mutations in patients with Rett syndrome]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030011. |
mutations in the mecp2 gene cause rett syndrome and are observed in approximately 80% of rett syndrome patients. |
2002-05-31 |
2023-08-12 |
mouse |
| Shinichi Kud. [Functional significance of MeCP2 mutations in patients with Rett syndrome]. No to hattatsu = Brain and development. vol 34. issue 3. 2002-05-31. PMID:12030011. |
these functional assays are useful in evaluating mutations in the methyl-cpg-binding domain of mecp2 and will provide insight into the relationship between the genotype and the phenotype of rett syndrome. |
2002-05-31 |
2023-08-12 |
mouse |
| J M Milunsky, R V Lebo, T Ikuta, T A Maher, C E Haverty, A Milunsk. Mutation analysis in Rett syndrome. Genetic testing. vol 5. issue 4. 2002-05-15. PMID:11960578. |
rett syndrome is an x-linked dominant neurodevelopmental disorder caused by mutations in the mecp2 gene. |
2002-05-15 |
2023-08-12 |
Not clear |
| J M Milunsky, R V Lebo, T Ikuta, T A Maher, C E Haverty, A Milunsk. Mutation analysis in Rett syndrome. Genetic testing. vol 5. issue 4. 2002-05-15. PMID:11960578. |
we identified mutations in the mecp2 gene and documented the clinical manifestations in 65 rett syndrome patients to characterize the genotype-phenotype spectrum. |
2002-05-15 |
2023-08-12 |
Not clear |
| J M Milunsky, R V Lebo, T Ikuta, T A Maher, C E Haverty, A Milunsk. Mutation analysis in Rett syndrome. Genetic testing. vol 5. issue 4. 2002-05-15. PMID:11960578. |
mecp2 analysis identified mutations in almost all cases of typical rett syndrome, as well as in some with atypical phenotypes. |
2002-05-15 |
2023-08-12 |
Not clear |
| Mona D Shahbazian, Barbara Antalffy, Dawna L Armstrong, Huda Y Zoghb. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Human molecular genetics. vol 11. issue 2. 2002-05-07. PMID:11809720. |
insight into rett syndrome: mecp2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. |
2002-05-07 |
2023-08-12 |
mouse |
| Mona D Shahbazian, Barbara Antalffy, Dawna L Armstrong, Huda Y Zoghb. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Human molecular genetics. vol 11. issue 2. 2002-05-07. PMID:11809720. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2002-05-07 |
2023-08-12 |
mouse |
| M T Dotti, A Orrico, N De Stefano, C Battisti, F Sicurelli, S Severi, C W Lam, L Galli, V Sorrentino, A Federic. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology. vol 58. issue 2. 2002-04-02. PMID:11805248. |
a rett syndrome mecp2 mutation that causes mental retardation in men. |
2002-04-02 |
2023-08-12 |
Not clear |
| X Nan, A Bir. The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738839. |
the biological functions of the methyl-cpg-binding protein mecp2 and its implication in rett syndrome. |
2002-03-13 |
2023-08-12 |
mouse |
| X Nan, A Bir. The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738839. |
mutations in mecp2 gene cause the x-linked neurodevelopmental disease rett syndrome. |
2002-03-13 |
2023-08-12 |
mouse |
| D D Armstron. Rett syndrome neuropathology review 2000. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738845. |
now mecp2 is the focus of research into the neuropathology of rett syndrome. |
2002-03-13 |
2023-08-12 |
Not clear |
| S S Budden, M E Gunnes. Bone histomorphometry in three females with Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738859. |
with the recent identification of mecp2 mutations in rett syndrome it is quite likely that genetic factors not only play a major role in brain development but may also influence other organ growth including bone formation. |
2002-03-13 |
2023-08-12 |
Not clear |
| S S Lee, M Wan, U Franck. Spectrum of MECP2 mutations in Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738860. |
spectrum of mecp2 mutations in rett syndrome. |
2002-03-13 |
2023-08-12 |
human |
| S S Lee, M Wan, U Franck. Spectrum of MECP2 mutations in Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738860. |
mutations in the methyl-cpg-binding protein 2 gene (mecp2) are identified in the majority of females with rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder. |
2002-03-13 |
2023-08-12 |
human |
| I B Van den Veyver, H Y Zoghb. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738862. |
about 80% of classic rett syndrome is caused by mutations in the gene for methyl-cpg-binding protein (mecp2) in xq28. |
2002-03-13 |
2023-08-12 |
Not clear |