| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C Colantuoni, O H Jeon, K Hyder, A Chenchik, A H Khimani, V Narayanan, E P Hoffman, W E Kaufmann, S Naidu, J Pevsne. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiology of disease. vol 8. issue 5. 2002-01-23. PMID:11592853. |
the identification of mutations in the transcriptional repressor methyl-cpg-binding protein 2 (mecp2) gene in rett syndrome (rtt) suggests that an inappropriate release of transcriptional silencing may give rise to rtt neuropathology. |
2002-01-23 |
2023-08-12 |
human |
| J M LaSalle, J Goldstine, D Balmer, C M Grec. Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Human molecular genetics. vol 10. issue 17. 2002-01-15. PMID:11532982. |
quantitative localization of heterogeneous methyl-cpg-binding protein 2 (mecp2) expression phenotypes in normal and rett syndrome brain by laser scanning cytometry. |
2002-01-15 |
2023-08-12 |
mouse |
| J M LaSalle, J Goldstine, D Balmer, C M Grec. Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Human molecular genetics. vol 10. issue 17. 2002-01-15. PMID:11532982. |
rett syndrome (rtt) is an x-linked, dominant neurodevelopmental disorder caused by mutations in mecp2, encoding the methyl-cpg-binding protein 2 (mecp2). |
2002-01-15 |
2023-08-12 |
mouse |
| A Erlandson, B Hallberg, B Hagberg, J Wahlström, T Martinsso. MECP2 mutation screening in Swedish classical Rett syndrome females. European child & adolescent psychiatry. vol 10. issue 2. 2001-12-17. PMID:11469283. |
mecp2 mutation screening in swedish classical rett syndrome females. |
2001-12-17 |
2023-08-12 |
Not clear |
| C J Ellaway, N Badawi, L Raffaele, J Christodoulou, H Leonar. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical dysmorphology. vol 10. issue 3. 2001-12-07. PMID:11446411. |
a case of multiple congenital anomalies in association with rett syndrome confirmed by mecp2 mutation screening. |
2001-12-07 |
2023-08-12 |
Not clear |
| L Villard, N Lévy, F Xiang, A Kpebe, V Labelle, C Chevillard, Z Zhang, C E Schwartz, M Tardieu, J Chelly, M Anvret, M Fontè. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. Journal of medical genetics. vol 38. issue 7. 2001-12-05. PMID:11432961. |
segregation of a totally skewed pattern of x chromosome inactivation in four familial cases of rett syndrome without mecp2 mutation: implications for the disease. |
2001-12-05 |
2023-08-12 |
Not clear |
| L Villard, N Lévy, F Xiang, A Kpebe, V Labelle, C Chevillard, Z Zhang, C E Schwartz, M Tardieu, J Chelly, M Anvret, M Fontè. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. Journal of medical genetics. vol 38. issue 7. 2001-12-05. PMID:11432961. |
mutations in the mecp2 gene were identified in approximately 70-80% of sporadic rett syndrome cases. |
2001-12-05 |
2023-08-12 |
Not clear |
| J Armstrong, M Pineda, E Aibar, E Geán, E Monró. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Annals of neurology. vol 50. issue 5. 2001-12-04. PMID:11706982. |
classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation. |
2001-12-04 |
2023-08-12 |
Not clear |
| F Xiang, Y Stenbom, M Anvret, B Hagber. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. Neuropediatrics. vol 32. issue 4. 2001-11-01. PMID:11571704. |
closely related swedish rett syndrome females - none with mecp2 mutation revealed. |
2001-11-01 |
2023-08-12 |
Not clear |
| F Xiang, Y Stenbom, M Anvret, B Hagber. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. Neuropediatrics. vol 32. issue 4. 2001-11-01. PMID:11571704. |
mutations in the mecp2 gene are known to be associated with rett syndrome (rtt) in the large majority of sporadic cases. |
2001-11-01 |
2023-08-12 |
Not clear |
| T Webb, F Lati. Rett syndrome and the MECP2 gene. Journal of medical genetics. vol 38. issue 4. 2001-10-25. PMID:11283201. |
rett syndrome and the mecp2 gene. |
2001-10-25 |
2023-08-12 |
Not clear |
| P Watson, G Black, S Ramsden, M Barrow, M Super, B Kerr, J Clayton-Smit. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. Journal of medical genetics. vol 38. issue 4. 2001-10-25. PMID:11283202. |
mutations within the x linked mecp2 gene have been identified in patients with rett syndrome (rtt), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with as. |
2001-10-25 |
2023-08-12 |
human |
| J S Schwartzman, A Bernardino, A Nishimura, R R Gomes, M Zat. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics. vol 32. issue 3. 2001-10-11. PMID:11521215. |
rett syndrome in a boy with a 47,xxy karyotype confirmed by a rare mutation in the mecp2 gene. |
2001-10-11 |
2023-08-12 |
Not clear |
| R V Lebo, T Ikuta, J M Milunsky, A Milunsk. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clinical genetics. vol 59. issue 6. 2001-10-04. PMID:11453972. |
rett syndrome from quintuple and triple deletions within the mecp2 deletion hotspot region. |
2001-10-04 |
2023-08-12 |
Not clear |
| R V Lebo, T Ikuta, J M Milunsky, A Milunsk. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clinical genetics. vol 59. issue 6. 2001-10-04. PMID:11453972. |
rett syndrome results from mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene, which are nearly always lethal in males and lead to regression and reduced life expectancy in females. |
2001-10-04 |
2023-08-12 |
Not clear |
| R V Lebo, T Ikuta, J M Milunsky, A Milunsk. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clinical genetics. vol 59. issue 6. 2001-10-04. PMID:11453972. |
herein we report one propositus with five tandem deletions and a second propositus with three tandem deletions within mecp2 exon 4 that encode truncated protein products resulting in classic rett syndrome. |
2001-10-04 |
2023-08-12 |
Not clear |
| R Umansky, J S Watson, K Hoffbuhr, K M Painter, J Devaney, E Hoffma. Social facilitation of object-oriented hand use in a Rett syndrome variant girl: implications for partial preservation of an hypothesized specialized cerebral network. Journal of developmental and behavioral pediatrics : JDBP. vol 22. issue 2. 2001-08-30. PMID:11332781. |
partial preservation of object-oriented hand use (oohu) was studied behaviorally in a 6-1/2-year-old girl with the preserved speech variant (psv) of rett syndrome (rs), associated with a t 158 missense mecp2 mutation and favorably skewed x-inactivation. |
2001-08-30 |
2023-08-12 |
human |
| P Vourc'h, T Bienvenu, C Beldjord, J Chelly, C Barthélémy, J P Müh, C Andre. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. European journal of human genetics : EJHG. vol 9. issue 7. 2001-08-30. PMID:11464249. |
no mutations in the coding region of the rett syndrome gene mecp2 in 59 autistic patients. |
2001-08-30 |
2023-08-12 |
Not clear |
| P Vourc'h, T Bienvenu, C Beldjord, J Chelly, C Barthélémy, J P Müh, C Andre. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. European journal of human genetics : EJHG. vol 9. issue 7. 2001-08-30. PMID:11464249. |
recently, the gene responsible for the rett syndrome, methyl cpg-binding protein (mecp2) gene, was identified on the x chromosome by a candidate gene strategy. |
2001-08-30 |
2023-08-12 |
Not clear |
| F Laccone, P Huppke, F Hanefeld, M Mein. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Human mutation. vol 17. issue 3. 2001-08-02. PMID:11241840. |
mutations in the mecp2 (methyl-cpg-binding protein) gene recently have been reported to cause rett syndrome (rtt), an x-linked dominant neurodevelopmental disease. |
2001-08-02 |
2023-08-12 |
Not clear |