| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Roger W Byar. Forensic issues and possible mechanisms of sudden death in Rett syndrome. Journal of clinical forensic medicine. vol 13. issue 2. 2006-08-02. PMID:16263320. |
death was attributed to the complications of rett syndrome, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, seizures and growth failure, caused by mutations in the mecp2 gene on the x chromosome. |
2006-08-02 |
2023-08-12 |
Not clear |
| Paolo Moretti, Huda Y Zoghb. MeCP2 dysfunction in Rett syndrome and related disorders. Current opinion in genetics & development. vol 16. issue 3. 2006-08-01. PMID:16647848. |
mecp2 dysfunction in rett syndrome and related disorders. |
2006-08-01 |
2023-08-12 |
mouse |
| Paolo Moretti, Huda Y Zoghb. MeCP2 dysfunction in Rett syndrome and related disorders. Current opinion in genetics & development. vol 16. issue 3. 2006-08-01. PMID:16647848. |
rett syndrome, a neurodevelopmental disorder caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2), is a leading cause of mental retardation with autistic features in females. |
2006-08-01 |
2023-08-12 |
mouse |
| Paolo Moretti, Huda Y Zoghb. MeCP2 dysfunction in Rett syndrome and related disorders. Current opinion in genetics & development. vol 16. issue 3. 2006-08-01. PMID:16647848. |
discovering which genes are misregulated in the absence of functional mecp2 and demonstrating their role in causing neuronal dysfunction and disease manifestations are challenging but important steps for understanding the pathogenesis of rett syndrome and related disorders. |
2006-08-01 |
2023-08-12 |
mouse |
| Ute Moog, Kees Van Roozendaal, Eric Smeets, Demis Tserpelis, Koen Devriendt, Griet Van Buggenhout, Jean-Pierre Frijns, Connie Schrander-Stumpe. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. Brain & development. vol 28. issue 5. 2006-07-26. PMID:16376510. |
mutations in the methyl-cpg-binding protein 2 (mecp2) gene located on xq28, cause rett syndrome (rtt) in female patients. |
2006-07-26 |
2023-08-12 |
Not clear |
| In Joo Kim, Yeon Joo Kim, Byeong Hee Son, Sang Ook Nam, Hoon Chul Kang, Heung Dong Kim, Mi Ae Yoo, Ook Hwan Choi, Cheol Min Ki. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. Experimental & molecular medicine. vol 38. issue 2. 2006-07-25. PMID:16672765. |
diagnostic mutational analysis of mecp2 in korean patients with rett syndrome. |
2006-07-25 |
2023-08-12 |
Not clear |
| In Joo Kim, Yeon Joo Kim, Byeong Hee Son, Sang Ook Nam, Hoon Chul Kang, Heung Dong Kim, Mi Ae Yoo, Ook Hwan Choi, Cheol Min Ki. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. Experimental & molecular medicine. vol 38. issue 2. 2006-07-25. PMID:16672765. |
four exons and a putative promoter of the mecp2 gene were analyzed from the peripheral blood of 43 korean patients with rett syndrome by pcr-rflp and direct sequencing. |
2006-07-25 |
2023-08-12 |
Not clear |
| H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, A J Clark. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of medical genetics. vol 43. issue 5. 2006-07-17. PMID:16183801. |
gross rearrangements of the mecp2 gene are found in both classical and atypical rett syndrome patients. |
2006-07-17 |
2023-08-12 |
Not clear |
| H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, A J Clark. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of medical genetics. vol 43. issue 5. 2006-07-17. PMID:16183801. |
mecp2 mutations are identifiable in approximately 80% of classic rett syndrome (rtt), but less frequently in atypical rtt. |
2006-07-17 |
2023-08-12 |
Not clear |
| H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, A J Clark. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of medical genetics. vol 43. issue 5. 2006-07-17. PMID:16183801. |
we recruited 110 patients who fulfilled the diagnostic criteria for rett syndrome and were referred to cardiff for molecular analysis, but in whom an mecp2 mutation was not identifiable. |
2006-07-17 |
2023-08-12 |
Not clear |
| Thierry Bienvenu, Christophe Philippe, Nicolas De Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaetan Lesca, Josette Mancini, Philippe Jonveaux, Anne Moncla, Josué Feingold, Jamel Chelly, Laurent Villar. The incidence of Rett syndrome in France. Pediatric neurology. vol 34. issue 5. 2006-07-06. PMID:16647997. |
mutations in the mecp2 gene are associated with rett syndrome and french laboratories have organized a clinical and molecular network to investigate the incidence of rett syndrome in france including the results of molecular investigations. |
2006-07-06 |
2023-08-12 |
Not clear |
| Thierry Bienvenu, Christophe Philippe, Nicolas De Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaetan Lesca, Josette Mancini, Philippe Jonveaux, Anne Moncla, Josué Feingold, Jamel Chelly, Laurent Villar. The incidence of Rett syndrome in France. Pediatric neurology. vol 34. issue 5. 2006-07-06. PMID:16647997. |
the present study, based on a large cohort of 424 patients with rett syndrome, found that the incidence of this disease with a mecp2 mutation varied between 0.43 to 0.71 per 10,000 females. |
2006-07-06 |
2023-08-12 |
Not clear |
| Thierry Bienvenu, Christophe Philippe, Nicolas De Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaetan Lesca, Josette Mancini, Philippe Jonveaux, Anne Moncla, Josué Feingold, Jamel Chelly, Laurent Villar. The incidence of Rett syndrome in France. Pediatric neurology. vol 34. issue 5. 2006-07-06. PMID:16647997. |
given that this is a minimum incidence because complete inventory was not possible, this study of patients with rett syndrome reinforces the fact that the great majority of patients with rett syndrome have a mecp2 mutation. |
2006-07-06 |
2023-08-12 |
Not clear |
| D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger, G Mátyá. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical genetics. vol 69. issue 4. 2006-06-28. PMID:16630165. |
clinical profiles of four patients with rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the mecp2 gene. |
2006-06-28 |
2023-08-12 |
Not clear |
| D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger, G Mátyá. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical genetics. vol 69. issue 4. 2006-06-28. PMID:16630165. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the x-linked mecp2 gene encoding methyl cpg binding protein 2 (mecp2). |
2006-06-28 |
2023-08-12 |
Not clear |
| John M Bissonnette, Sharon J Knop. Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatric research. vol 59. issue 4 Pt 1. 2006-06-27. PMID:16549521. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the x-linked gene methyl-cpg-binding protein 2 (mecp2) that encodes a dna binding protein involved in gene silencing. |
2006-06-27 |
2023-08-12 |
mouse |
| John M Bissonnette, Sharon J Knop. Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatric research. vol 59. issue 4 Pt 1. 2006-06-27. PMID:16549521. |
respiratory depression in this mouse model of rett syndrome is seen in with ubiquitous deficiency in mecp2 but not when it is confined to neurons. |
2006-06-27 |
2023-08-12 |
mouse |
| Thierry Bienvenu, Jamel Chell. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nature reviews. Genetics. vol 7. issue 6. 2006-06-27. PMID:16708070. |
the discovery that rett syndrome is caused by mutations that affect the methyl-cpg-binding protein mecp2 provided a major breakthrough in understanding this severe neurodevelopmental disorder. |
2006-06-27 |
2023-08-12 |
Not clear |
| Liron Abuhatzira, Kirill Makedonski, Yael Petel Galil, Eva Gak, Bruria Ben Zeev, Aharon Razin, Ruth Sheme. Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. Human genetics. vol 118. issue 1. 2006-06-06. PMID:16133181. |
around 80% of rett syndrome (rs) cases have a mutation or deletion within the coding sequence of the mecp2 gene. |
2006-06-06 |
2023-08-12 |
Not clear |
| Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, Steve S Somme. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). Human mutation. vol 25. issue 5. 2006-06-05. PMID:15841480. |
detection of heterozygous deletions and duplications in the mecp2 gene in rett syndrome by robust dosage pcr (rd-pcr). |
2006-06-05 |
2023-08-12 |
Not clear |