| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Linda S Weaving, Sarah L Williamson, Bruce Bennetts, Mark Davis, Carolyn J Ellaway, Helen Leonard, Meow-Keong Thong, Martin Delatycki, Elizabeth M Thompson, Nigel Laing, John Christodoulo. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American journal of medical genetics. Part A. vol 118A. issue 2. 2003-07-24. PMID:12655490. |
effects of mecp2 mutation type, location and x-inactivation in modulating rett syndrome phenotype. |
2003-07-24 |
2023-08-12 |
Not clear |
| Linda S Weaving, Sarah L Williamson, Bruce Bennetts, Mark Davis, Carolyn J Ellaway, Helen Leonard, Meow-Keong Thong, Martin Delatycki, Elizabeth M Thompson, Nigel Laing, John Christodoulo. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American journal of medical genetics. Part A. vol 118A. issue 2. 2003-07-24. PMID:12655490. |
rett syndrome (rtt) is a clinically defined disorder that describes a subset of patients with mutations in the x-linked mecp2 gene. |
2003-07-24 |
2023-08-12 |
Not clear |
| Deborah R S Cohen, Valéry Matarazzo, Amy M Palmer, Yajun Tu, Ok-Hee Jeon, Jonathan Pevsner, Gabriele V Ronnet. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Molecular and cellular neurosciences. vol 22. issue 4. 2003-07-11. PMID:12727440. |
rett syndrome, a neurodevelopmental disorder hypothesized to be due to defective neuronal maturation, is a result of mutations in the mecp2 gene encoding the transcriptional repressor methyl-cpg binding protein (mecp2). |
2003-07-11 |
2023-08-12 |
Not clear |
| Deborah R S Cohen, Valéry Matarazzo, Amy M Palmer, Yajun Tu, Ok-Hee Jeon, Jonathan Pevsner, Gabriele V Ronnet. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Molecular and cellular neurosciences. vol 22. issue 4. 2003-07-11. PMID:12727440. |
identifying the time window of mecp2 expression should help further clarify the biological defects in rett syndrome. |
2003-07-11 |
2023-08-12 |
Not clear |
| Gisela Maria Liebhaber, Edith Riemann, Friedrich Albert Matthias Baumeiste. Ketogenic diet in Rett syndrome. Journal of child neurology. vol 18. issue 1. 2003-07-03. PMID:12661945. |
diagnosis of rett syndrome was confirmed by molecular detection of the ser134cys mutation in the mecp2 gene, which has previously been described only in classic rett syndrome. |
2003-07-03 |
2023-08-12 |
Not clear |
| K M Aber, P Nori, S M MacDonald, G Bibat, M H Jarrar, W E Kaufman. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Neuroscience. vol 116. issue 1. 2003-06-24. PMID:12535940. |
rett syndrome, a disorder characterized by mental retardation and autistic features, is associated in a majority of cases with mutations within the coding region of the mecp2 gene. |
2003-06-24 |
2023-08-12 |
Not clear |
| K M Aber, P Nori, S M MacDonald, G Bibat, M H Jarrar, W E Kaufman. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Neuroscience. vol 116. issue 1. 2003-06-24. PMID:12535940. |
considering that defective mecp2 has mainly been related to rett syndrome and other neurologic manifestations, we examined methyl-cpg-binding protein 2 cellular and subcellular compartmentalization in normal brain by immunochemical methods. |
2003-06-24 |
2023-08-12 |
Not clear |
| Benjamin P Jung, Denis G M Jugloff, Guangming Zhang, Richard Logan, Stephanie Brown, James H Eubank. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. Journal of neurobiology. vol 55. issue 1. 2003-05-21. PMID:12605461. |
mutations in the mecp2 gene cause rett syndrome, a neurologic condition affecting primarily young girls. |
2003-05-21 |
2023-08-12 |
rat |
| Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, Sam Schoenmakers, Jos Herbergs, Anneke M J Schoonbrood-Lenssen, Connie T R M Schrander-Stumpe. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 7. issue 1. 2003-05-15. PMID:12615169. |
neurodevelopmental disorders in males related to the gene causing rett syndrome in females (mecp2). |
2003-05-15 |
2023-08-12 |
Not clear |
| Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, Sam Schoenmakers, Jos Herbergs, Anneke M J Schoonbrood-Lenssen, Connie T R M Schrander-Stumpe. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 7. issue 1. 2003-05-15. PMID:12615169. |
mutations in the mecp2 (methyl-cpg-binding protein 2) gene are known to cause rett syndrome, a well-known and clinically defined neurodevelopmental disorder. |
2003-05-15 |
2023-08-12 |
Not clear |
| Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, Sam Schoenmakers, Jos Herbergs, Anneke M J Schoonbrood-Lenssen, Connie T R M Schrander-Stumpe. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 7. issue 1. 2003-05-15. PMID:12615169. |
since the discovery of the mecp2 gene as the cause of rett syndrome in 1999, mecp2 mutations have, however, also been reported in males. |
2003-05-15 |
2023-08-12 |
Not clear |
| Ute Moog, Eric E J Smeets, Kees E P van Roozendaal, Sam Schoenmakers, Jos Herbergs, Anneke M J Schoonbrood-Lenssen, Connie T R M Schrander-Stumpe. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 7. issue 1. 2003-05-15. PMID:12615169. |
in all other cases, males with mecp2 mutations show diverse phenotypes different from classical rett syndrome. |
2003-05-15 |
2023-08-12 |
Not clear |
| Alberto L Rosa, Joseph Jankovic, Tetsuo Ashizaw. Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Archives of neurology. vol 60. issue 4. 2003-05-07. PMID:12707062. |
screening for mutations in the mecp2 (rett syndrome) gene in gilles de la tourette syndrome. |
2003-05-07 |
2023-08-12 |
Not clear |
| John Christodoulou, Andrew Grimm, Tony Maher, Bruce Bennett. RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution. Human mutation. vol 21. issue 5. 2003-04-25. PMID:12673788. |
in addition, mecp2 mutations have been reported in patients who do not fit the diagnostic criteria for rett syndrome. |
2003-04-25 |
2023-08-12 |
human |
| Schahram Akbaria. The neurobiology of Rett syndrome. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 9. issue 1. 2003-04-16. PMID:12580340. |
despite these recent advances in molecular genetics, little is known about the neurobiology of rett syndrome and the role of mecp2 protein in the nervous system. |
2003-04-16 |
2023-08-12 |
mouse |
| Inge M Buyse, Benjamin B Ro. Denaturing high-performance liquid chromatography and sequence analyses for MECP2 mutations in Rett syndrome. Methods in molecular biology (Clifton, N.J.). vol 217. 2003-04-11. PMID:12491927. |
denaturing high-performance liquid chromatography and sequence analyses for mecp2 mutations in rett syndrome. |
2003-04-11 |
2023-08-12 |
Not clear |
| Peter Huppke, Karola Köhler, Franco Laccone, Folker Hanefel. Indication for genetic testing: a checklist for Rett syndrome. The Journal of pediatrics. vol 142. issue 3. 2003-04-10. PMID:12640384. |
we reevaluated 49 girls with either rett syndrome (rtt) or features of rtt who had negative test results for mutations in the mecp2 gene and compared them with 49 girls who had positive test results. |
2003-04-10 |
2023-08-12 |
Not clear |
| Agata Fiumara, Agata Polizzi, Rosalucia Mazzei, Luisa Conforti, Angela Magariello, Giovanni Sorge, Lorenzo Pavon. Rett syndrome phenotype following infantile acute encephalopathy. Journal of child neurology. vol 17. issue 9. 2003-02-06. PMID:12503649. |
recently, mutations in the gene encoding x-linked methyl-cpg binding protein 2 (mecp2) have been identified as the cause of rett syndrome. |
2003-02-06 |
2023-08-12 |
Not clear |
| S Ijichi, N Ijich. Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. Medical hypotheses. vol 58. issue 4. 2003-01-30. PMID:12027529. |
furthermore, it has been demonstrated that rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in mecp2 gene. |
2003-01-30 |
2023-08-12 |
Not clear |
| L Colvin, S Fyfe, S Leonard, T Schiavello, C Ellaway, N De Klerk, J Christodoulou, M Msall, H Leonar. Describing the phenotype in Rett syndrome using a population database. Archives of disease in childhood. vol 88. issue 1. 2003-01-28. PMID:12495959. |
mutations in the mecp2 gene have been recently identified as the cause of rett syndrome, prompting research into genotype-phenotype relations. |
2003-01-28 |
2023-08-12 |
Not clear |