| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| K Amano, Y Nomura, M Segawa, K Yamakaw. R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738863. |
the gene, mecp2, has been reported to be responsible for rett syndrome. |
2002-03-13 |
2023-08-12 |
Not clear |
| K Amano, Y Nomura, M Segawa, K Yamakaw. R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738863. |
we analyzed the mecp2 gene in three sporadic japanese patients with rett syndrome. |
2002-03-13 |
2023-08-12 |
Not clear |
| Y Yamashita, I Kondo, T Fukuda, R Morishima, A Kusaga, R Iwanaga, T Matsuish. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738864. |
genomic dnas from 35 japanese sporadic patients with rett syndrome (rtt) were screened for dna mutations in the entire coding region and exon-intron boundaries of methyl-cpg-binding protein 2 (mecp2). |
2002-03-13 |
2023-08-12 |
Not clear |
| T Ishii, Y Makita, A Ogawa, S Amamiya, M Yamamoto, A Miyamoto, J Ok. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738865. |
a gene for methyl-cpg binding protein 2 (mecp2), which locates xq28, was recently found to be responsible for rett syndrome. |
2002-03-13 |
2023-08-12 |
human |
| T Ishii, Y Makita, A Ogawa, S Amamiya, M Yamamoto, A Miyamoto, J Ok. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738865. |
although mutational analyses of mecp2 in rett syndrome have been extensively analyzed, the mechanism(s) by which variable clinical phenotype occurred between affected monozygotic twins or sisters have not been clarified. |
2002-03-13 |
2023-08-12 |
human |
| S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, J Dragich, C Schanen, M Tamur. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738866. |
functional analyses of mecp2 mutations associated with rett syndrome using transient expression systems. |
2002-03-13 |
2023-08-12 |
mouse |
| S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, J Dragich, C Schanen, M Tamur. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738866. |
recent genetic analyses have revealed that mutations in the methyl-cpg-binding protein gene encoding mecp2 are associated with rett syndrome. |
2002-03-13 |
2023-08-12 |
mouse |
| S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, J Dragich, C Schanen, M Tamur. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738866. |
thus, these functional assays are useful to evaluate the consequences of mutation in the methyl-cpg-binding domain of mecp2 and provide an insight into the relationship between the genotype and the severity of rett syndrome. |
2002-03-13 |
2023-08-12 |
mouse |
| A K Perc. Rett syndrome: clinical correlates of the newly discovered gene. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738873. |
the recent identification of mutations in the gene, mecp2, in girls with rett syndrome (rs) firmly establishes the molecular genetic basis of this x-linked dominant disorder. |
2002-03-13 |
2023-08-12 |
Not clear |
| L Giunti, S Pelagatti, V Lazzerini, S Guarducci, E Lapi, S Coviello, A Cecconi, L Ombroni, E Andreucci, I Sani, A Brusaferri, A Lasagni, G Ricotti, B Giometto, P Nicolao, P Gasparini, M Granatiero, M L Uziell. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738883. |
spectrum and distribution of mecp2 mutations in 64 italian rett syndrome girls: tentative genotype/phenotype correlation. |
2002-03-13 |
2023-08-12 |
Not clear |
| L Giunti, S Pelagatti, V Lazzerini, S Guarducci, E Lapi, S Coviello, A Cecconi, L Ombroni, E Andreucci, I Sani, A Brusaferri, A Lasagni, G Ricotti, B Giometto, P Nicolao, P Gasparini, M Granatiero, M L Uziell. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738883. |
we report a direct dna sequencing analysis of the mecp2 gene undertaken on a further 64 italian patients with rett syndrome by using a licor 4200 automated sequencer. |
2002-03-13 |
2023-08-12 |
Not clear |
| L Giunti, S Pelagatti, V Lazzerini, S Guarducci, E Lapi, S Coviello, A Cecconi, L Ombroni, E Andreucci, I Sani, A Brusaferri, A Lasagni, G Ricotti, B Giometto, P Nicolao, P Gasparini, M Granatiero, M L Uziell. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738883. |
mutations of the mecp2 gene were identified in 64 of 75 (85.33%) unrelated sporadic rett syndrome girls. |
2002-03-13 |
2023-08-12 |
Not clear |
| M Vacca, F Filippini, A Budillon, V Rossi, F Della Ragione, M L De Bonis, G Mercadante, E Manzati, F Gualandi, S Bigoni, C Trabanelli, G Pini, E Calzolari, A Ferlini, I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F Macdonald, A Kerr, S Dhanjal, M Hulte. MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Brain & development. vol 23 Suppl 1. 2002-03-13. PMID:11738884. |
mecp2 gene mutation analysis in the british and italian rett syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new mecp2 conserved region. |
2002-03-13 |
2023-08-12 |
Not clear |
| V Bourdon, C Philippe, T Bienvenu, B Koenig, M Tardieu, J Chelly, P Jonveau. Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. Journal of medical genetics. vol 38. issue 12. 2002-03-07. PMID:11768391. |
evidence of somatic mosaicism for a mecp2 mutation in females with rett syndrome: diagnostic implications. |
2002-03-07 |
2023-08-12 |
Not clear |
| M Zappella, I Meloni, I Longo, G Hayek, A Renier. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. American journal of medical genetics. vol 104. issue 1. 2002-02-21. PMID:11746022. |
mutations in the mecp2 gene cause the severe neurodevelopmental disorder called rett syndrome. |
2002-02-21 |
2023-08-12 |
Not clear |
| M Zappella, I Meloni, I Longo, G Hayek, A Renier. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. American journal of medical genetics. vol 104. issue 1. 2002-02-21. PMID:11746022. |
preliminary evidence suggests that mecp2 may be involved in a broader phenotype than classical rett syndrome including preserved speech variants (psv). |
2002-02-21 |
2023-08-12 |
Not clear |
| V Bourdon, C Philippe, A Grandemenge, K Reichwald, P Jonveau. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Annales de genetique. vol 44. issue 4. 2002-02-21. PMID:11755104. |
mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene have been found to be a cause of rett syndrome (rtt). |
2002-02-21 |
2023-08-12 |
Not clear |
| V Bourdon, C Philippe, A Grandemenge, K Reichwald, P Jonveau. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Annales de genetique. vol 44. issue 4. 2002-02-21. PMID:11755104. |
no deletion were found in our group, suggesting that mecp2 gross rearrangements are a rare cause of rett syndrome. |
2002-02-21 |
2023-08-12 |
Not clear |
| S Akbarian, R Z Chen, J Gribnau, T P Rasmussen, H Fong, R Jaenisch, E G Jone. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiology of disease. vol 8. issue 5. 2002-01-23. PMID:11592848. |
expression pattern of the rett syndrome gene mecp2 in primate prefrontal cortex. |
2002-01-23 |
2023-08-12 |
mouse |
| S Akbarian, R Z Chen, J Gribnau, T P Rasmussen, H Fong, R Jaenisch, E G Jone. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiology of disease. vol 8. issue 5. 2002-01-23. PMID:11592848. |
dysfunction of the prefrontal cortex may contribute to the autistic features and mental retardation of rett syndrome, a neuropsychiatric condition caused by mutations of the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2002-01-23 |
2023-08-12 |
mouse |