| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| K Hampson, C G Woods, F Latif, T Web. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. Journal of medical genetics. vol 37. issue 8. 2000-09-12. PMID:10991689. |
mutations in the mecp2 gene in a cohort of girls with rett syndrome. |
2000-09-12 |
2023-08-12 |
Not clear |
| K Amano, Y Nomura, M Segawa, K Yamakaw. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. Journal of human genetics. vol 45. issue 4. 2000-09-01. PMID:10944854. |
mutational analysis of the mecp2 gene in japanese patients with rett syndrome. |
2000-09-01 |
2023-08-12 |
Not clear |
| K Amano, Y Nomura, M Segawa, K Yamakaw. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. Journal of human genetics. vol 45. issue 4. 2000-09-01. PMID:10944854. |
recently, the mecp2 (methyl-cpg-binding protein 2) gene, mapped on chromosome xq28, was reported to be responsible for rett syndrome. |
2000-09-01 |
2023-08-12 |
Not clear |
| K Amano, Y Nomura, M Segawa, K Yamakaw. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. Journal of human genetics. vol 45. issue 4. 2000-09-01. PMID:10944854. |
we performed mutational analysis of the mecp2 gene in 26 japanese patients with rett syndrome (who were sporadic cases), and identified disease alleles in 19 patients. |
2000-09-01 |
2023-08-12 |
Not clear |
| K Amano, Y Nomura, M Segawa, K Yamakaw. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. Journal of human genetics. vol 45. issue 4. 2000-09-01. PMID:10944854. |
the novel disease alleles and benign variants of the mecp2 gene found in this study should contribute to the establishment of a reliable diagnosis of rett syndrome. |
2000-09-01 |
2023-08-12 |
Not clear |
| P Huppke, F Laccone, N Krämer, W Engel, F Hanefel. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Human molecular genetics. vol 9. issue 9. 2000-08-29. PMID:10814718. |
rett syndrome: analysis of mecp2 and clinical characterization of 31 patients. |
2000-08-29 |
2023-08-12 |
Not clear |
| P Huppke, F Laccone, N Krämer, W Engel, F Hanefel. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Human molecular genetics. vol 9. issue 9. 2000-08-29. PMID:10814718. |
only recently have mutations in mecp2 been found to be a cause of rett syndrome (rtt), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females. |
2000-08-29 |
2023-08-12 |
Not clear |
| T Bienvenu, A Carrié, N de Roux, M C Vinet, P Jonveaux, P Couvert, L Villard, A Arzimanoglou, C Beldjord, M Fontes, M Tardieu, J Chell. MECP2 mutations account for most cases of typical forms of Rett syndrome. Human molecular genetics. vol 9. issue 9. 2000-08-29. PMID:10814719. |
mecp2 mutations account for most cases of typical forms of rett syndrome. |
2000-08-29 |
2023-08-12 |
Not clear |
| E Ballestar, T M Yusufzai, A P Wolff. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry. vol 39. issue 24. 2000-07-21. PMID:10852707. |
effects of rett syndrome mutations of the methyl-cpg binding domain of the transcriptional repressor mecp2 on selectivity for association with methylated dna. |
2000-07-21 |
2023-08-12 |
Not clear |
| E Ballestar, T M Yusufzai, A P Wolff. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry. vol 39. issue 24. 2000-07-21. PMID:10852707. |
we have investigated the properties of mutant forms of the methyl-cpg binding transcriptional repressor mecp2 associated with rett syndrome, a childhood neurodevelopmental disorder. |
2000-07-21 |
2023-08-12 |
Not clear |
| E Ballestar, T M Yusufzai, A P Wolff. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry. vol 39. issue 24. 2000-07-21. PMID:10852707. |
three of these mutations (r106w, r133c, and f155s) have their binding affinities for methylated dna reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated dna of mutant mecp2 contributes to rett syndrome. |
2000-07-21 |
2023-08-12 |
Not clear |
| I B Van den Veyver, H Y Zoghb. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Current opinion in genetics & development. vol 10. issue 3. 2000-07-14. PMID:10826991. |
mutations in mecp2 have been found in 76% of classic rett syndrome patients. |
2000-07-14 |
2023-08-12 |
Not clear |
| J P Cheadle, H Gill, N Fleming, J Maynard, A Kerr, H Leonard, M Krawczak, D N Cooper, S Lynch, N Thomas, H Hughes, M Hulten, D Ravine, J R Sampson, A Clark. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human molecular genetics. vol 9. issue 7. 2000-06-23. PMID:10767337. |
long-read sequence analysis of the mecp2 gene in rett syndrome patients: correlation of disease severity with mutation type and location. |
2000-06-23 |
2023-08-12 |
Not clear |
| J P Cheadle, H Gill, N Fleming, J Maynard, A Kerr, H Leonard, M Krawczak, D N Cooper, S Lynch, N Thomas, H Hughes, M Hulten, D Ravine, J R Sampson, A Clark. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human molecular genetics. vol 9. issue 7. 2000-06-23. PMID:10767337. |
mutations in the methyl-cpg-binding protein gene mecp2 at xq28 cause rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder characterized by a period of stagnation followed by regression in the development of young girls. |
2000-06-23 |
2023-08-12 |
Not clear |
| R E Amir, I B Van den Veyver, R Schultz, D M Malicki, C Q Tran, E J Dahle, A Philippi, L Timar, A K Percy, K J Motil, O Lichtarge, E O Smith, D G Glaze, H Y Zoghb. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Annals of neurology. vol 47. issue 5. 2000-05-31. PMID:10805343. |
we screened 71 sporadic and 7 familial rett syndrome (rtt) patients for mecp2 mutations by direct sequencing and determined the pattern of x chromosome inactivation (xci) in 39 rtt patients. |
2000-05-31 |
2023-08-12 |
mouse |
| S J Kim, E H Coo. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. Human mutation. vol 15. issue 4. 2000-04-28. PMID:10737989. |
novel de novo nonsense mutation of mecp2 in a patient with rett syndrome. |
2000-04-28 |
2023-08-12 |
Not clear |
| S J Kim, E H Coo. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. Human mutation. vol 15. issue 4. 2000-04-28. PMID:10737989. |
because of the recent identification of several mutations of methyl-cpg-binding protein 2 (mecp2) in patients with rett syndrome (rtt), a patient with suspected rtt from an autism clinic was screened for mutations. |
2000-04-28 |
2023-08-12 |
Not clear |
| M Wan, S S Lee, X Zhang, I Houwink-Manville, H R Song, R E Amir, S Budden, S Naidu, J L Pereira, I F Lo, H Y Zoghbi, N C Schanen, U Franck. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American journal of human genetics. vol 65. issue 6. 2000-01-27. PMID:10577905. |
rett syndrome and beyond: recurrent spontaneous and familial mecp2 mutations at cpg hotspots. |
2000-01-27 |
2023-08-12 |
Not clear |
| R E Amir, I B Van den Veyver, M Wan, C Q Tran, U Francke, H Y Zoghb. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. vol 23. issue 2. 1999-10-19. PMID:10508514. |
rett syndrome is caused by mutations in x-linked mecp2, encoding methyl-cpg-binding protein 2. |
1999-10-19 |
2023-08-12 |
Not clear |