| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Takayuki Fukuda, Yushiro Yamashita, Shinichiro Nagamitsu, Kenichi Miyamoto, Jing-Ji Jin, Iori Ohmori, Yoko Ohtsuka, Katsuko Kuwajima, Shoichi Endo, Tsuyako Iwai, Hidehisa Yamagata, Yasuharu Tabara, Tetsuro Miki, Toyojiro Matsuishi, Ikuko Kond. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Brain & development. vol 27. issue 3. 2005-05-03. PMID:15737703. |
a total of 45 different mutations of methyl-cpg-binding protein 2 gene (mecp2) were identified in 145 of 219 japanese patients with typical or atypical rett syndrome (rtt) (66.2%). |
2005-05-03 |
2023-08-12 |
Not clear |
| Julie C Evans, Hayley L Archer, Sharon D Whatley, Alison Kerr, Angus Clarke, Rachel Butle. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. European journal of human genetics : EJHG. vol 13. issue 1. 2005-04-26. PMID:15367913. |
variation in exon 1 coding region and promoter of mecp2 in rett syndrome and controls. |
2005-04-26 |
2023-08-12 |
Not clear |
| Julie C Evans, Hayley L Archer, Sharon D Whatley, Alison Kerr, Angus Clarke, Rachel Butle. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. European journal of human genetics : EJHG. vol 13. issue 1. 2005-04-26. PMID:15367913. |
mutations in mecp2 are a cause of rett syndrome. |
2005-04-26 |
2023-08-12 |
Not clear |
| Julie C Evans, Hayley L Archer, Sharon D Whatley, Alison Kerr, Angus Clarke, Rachel Butle. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. European journal of human genetics : EJHG. vol 13. issue 1. 2005-04-26. PMID:15367913. |
we screened exon 1 and the promoter region of mecp2 in 97 mutation-negative rett syndrome cases. |
2005-04-26 |
2023-08-12 |
Not clear |
| Julie C Evans, Hayley L Archer, Sharon D Whatley, Alison Kerr, Angus Clarke, Rachel Butle. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. European journal of human genetics : EJHG. vol 13. issue 1. 2005-04-26. PMID:15367913. |
mutations in exon 1 and the promoter of mecp2 are not a common cause of rett syndrome. |
2005-04-26 |
2023-08-12 |
Not clear |
| Esteban Ballestar, Santiago Ropero, Miguel Alaminos, Judith Armstrong, Fernando Setien, Ruben Agrelo, Mario F Fraga, Michel Herranz, Sonia Avila, Mercedes Pineda, Eugenia Monros, Manel Estelle. The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Human genetics. vol 116. issue 1-2. 2005-04-21. PMID:15549394. |
the impact of mecp2 mutations in the expression patterns of rett syndrome patients. |
2005-04-21 |
2023-08-12 |
Not clear |
| Esteban Ballestar, Santiago Ropero, Miguel Alaminos, Judith Armstrong, Fernando Setien, Ruben Agrelo, Mario F Fraga, Michel Herranz, Sonia Avila, Mercedes Pineda, Eugenia Monros, Manel Estelle. The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Human genetics. vol 116. issue 1-2. 2005-04-21. PMID:15549394. |
rett syndrome (rtt), the second most common cause of mental retardation in females, has been associated with mutations in mecp2, the archetypical member of the methyl-cpg binding domain (mbd) family of proteins. |
2005-04-21 |
2023-08-12 |
Not clear |
| Xin-hua Bao, Hong Pan, Fu-ying Song, Xi-ru W. [Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 42. issue 4. 2005-04-18. PMID:15157382. |
[clinical feature of rett syndrome and mecp2 genotype/phenotype correlation analysis]. |
2005-04-18 |
2023-08-12 |
Not clear |
| E Smeets, P Terhal, P Casaer, A Peters, A Midro, E Schollen, K van Roozendaal, U Moog, G Matthijs, J Herbergs, H Smeets, L Curfs, C Schrander-Stumpel, J P Fryn. Rett syndrome in females with CTS hot spot deletions: a disorder profile. American journal of medical genetics. Part A. vol 132A. issue 2. 2005-04-18. PMID:15578576. |
from a series of 107 females with rett syndrome (rtt), we describe the long-term history of ten females with a deletion in the c-terminus of the mecp2 gene. |
2005-04-18 |
2023-08-12 |
Not clear |
| Maria Teresa Dotti, Francesca Guideri, Maurizio Acampa, Alfredo Orrico, Carla Battisti, Antonio Federic. Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. Journal of child neurology. vol 19. issue 12. 2005-04-12. PMID:15704871. |
mecp2 gene mutations responsible for rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities. |
2005-04-12 |
2023-08-12 |
Not clear |
| Hannah Moore, Helen Leonard, Nick de Klerk, Ian Robertson, Sue Fyfe, John Christodoulou, Linda Weaving, Mark Davis, Seonaid Mulroy, Lyn Colvi. Health service use in Rett syndrome. Journal of child neurology. vol 20. issue 1. 2005-04-12. PMID:15791922. |
rett syndrome is a severe neurodevelopmental disorder affecting girls, caused by mutations in the mecp2 gene. |
2005-04-12 |
2023-08-12 |
Not clear |
| Kiyokuni Miura, Toshiyuki Kumagai, Yoshiko Suzuki, Takashi Ohki, Akiko Matsumoto, Shuji Miyazaki, Chiemi Hayakawa, Shin-ichi Sonta, Yasukazu Yamada, Nobuaki Wakamats. [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. No to hattatsu = Brain and development. vol 37. issue 1. 2005-02-18. PMID:15675358. |
[clinical symptoms of the rett syndrome patients with mecp2 gene abnormalities]. |
2005-02-18 |
2023-08-12 |
Not clear |
| Kiyokuni Miura, Toshiyuki Kumagai, Yoshiko Suzuki, Takashi Ohki, Akiko Matsumoto, Shuji Miyazaki, Chiemi Hayakawa, Shin-ichi Sonta, Yasukazu Yamada, Nobuaki Wakamats. [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. No to hattatsu = Brain and development. vol 37. issue 1. 2005-02-18. PMID:15675358. |
mutations in a gene on the x-chromosome encoding methyl-cpg-binding protein 2 (mecp2) cause rett syndrome. |
2005-02-18 |
2023-08-12 |
Not clear |
| Akane Shibayama, Edwin H Cook, Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R Jones, David Goldman, Leonard L Heston, Steve S Somme. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 128B. issue 1. 2005-02-16. PMID:15211631. |
mutations in the gene coding for methyl-cpg-binding protein 2 (mecp2) cause rett syndrome (rtt) and have also been reported in a number of x-linked mental retardation syndromes. |
2005-02-16 |
2023-08-12 |
Not clear |
| Shin-ichi Horike, Shutao Cai, Masaru Miyano, Jan-Fang Cheng, Terumi Kohwi-Shigemats. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nature genetics. vol 37. issue 1. 2005-02-07. PMID:15608638. |
mutations in mecp2 are associated with rett syndrome, an x-linked neurodevelopmental disorder. |
2005-02-07 |
2023-08-12 |
mouse |
| Linda S Weaving, John Christodoulou, Sarah L Williamson, Kathie L Friend, Olivia L D McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J Pelka, Patrick P L Tam, Catherine Watson, Hooshang Lahooti, Carolyn J Ellaway, Bruce Bennetts, Helen Leonard, Jozef Géc. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American journal of human genetics. vol 75. issue 6. 2005-02-04. PMID:15492925. |
rett syndrome (rtt) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the x-linked methyl-cpg-binding protein 2 gene (mecp2). |
2005-02-04 |
2023-08-12 |
mouse |
| V Bzduch, D Zahorakova, E Grechanina, E P Zdibskaja, I G Goldfarb, J Zeman, P Martase. A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene. Bratislavske lekarske listy. vol 105. issue 9. 2005-02-04. PMID:15633890. |
a case of rett syndrome from ukraine--clinical diagnosis confirmed by mutation analysis of the mecp2 gene. |
2005-02-04 |
2023-08-12 |
Not clear |
| V Bzduch, D Zahorakova, E Grechanina, E P Zdibskaja, I G Goldfarb, J Zeman, P Martase. A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene. Bratislavske lekarske listy. vol 105. issue 9. 2005-02-04. PMID:15633890. |
rett syndrome (rtt) is an x-linked disorder caused by mutations in the methyl-cpg-binding protein 2 gene (mecp2). |
2005-02-04 |
2023-08-12 |
Not clear |
| Judit Kárteszi, Katalin Hollódy, Judit Bene, Eva Morava, Kinga Hadzsiev, Márta Czakó, Béla Melegh, Alexandra Tészás, György Kosztolány. Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients. American journal of medical genetics. Part A. vol 131. issue 1. 2005-02-02. PMID:15389714. |
mutation analysis of mecp2 and determination of the x-inactivation pattern in hungarian rett syndrome patients. |
2005-02-02 |
2023-08-12 |
Not clear |
| Valéry Matarazzo, Deborah Cohen, Amy M Palmer, P Jeanette Simpson, Babar Khokhar, Shih-Jung Pan, Gabriele V Ronnet. The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Molecular and cellular neurosciences. vol 27. issue 1. 2005-01-26. PMID:15345242. |
rett syndrome (rtt) is a severe neurodevelopmental disorder with features of autism that results from mutation of the gene encoding the transcriptional repressor methyl-cpg binding protein (mecp2). |
2005-01-26 |
2023-08-12 |
Not clear |