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Results: 1 to 20 of 105

1.

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Cukier HN, Rabionet R, Konidari I, Rayner-Evans MY, Baltos ML, Wright HH, Abramson RK, Martin ER, Cuccaro ML, Pericak-Vance MA, Gilbert JR.

Neurogenetics. 2010 Jul;11(3):291-303. doi: 10.1007/s10048-009-0228-7. Epub 2009 Nov 18.

PMID:
19921286
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR.

Autism Res. 2012 Dec;5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10.

PMID:
23055267
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutation analysis of methyl-CpG binding protein family genes in autistic patients.

Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY.

Brain Dev. 2005 Aug;27(5):321-5.

PMID:
15967618
[PubMed - indexed for MEDLINE]
4.

A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.

Campos M Jr, Pestana CP, dos Santos AV, Ponchel F, Churchman S, Abdalla-Carvalho CB, dos Santos JM, dos Santos FL, Gikovate CG, Santos-Rebouças CB, Pimentel MM.

Brain Dev. 2011 Nov;33(10):807-9. doi: 10.1016/j.braindev.2011.04.015. Epub 2011 May 19.

PMID:
21600714
[PubMed - indexed for MEDLINE]
5.

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.

Coutinho AM, Oliveira G, Katz C, Feng J, Yan J, Yang C, Marques C, Ataíde A, Miguel TS, Borges L, Almeida J, Correia C, Currais A, Bento C, Mota-Vieira L, Temudo T, Santos M, Maciel P, Sommer SS, Vicente AM.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):475-83.

PMID:
17427193
[PubMed - indexed for MEDLINE]
6.

Dynamic changes in the localization of five members of the methyl binding domain (MBD) gene family during murine and bovine preimplantation embryo development.

Ruddock-D'Cruz NT, Xue J, Wilson KJ, Heffernan C, Prashadkumar S, Cooney MA, Sanchez-Partida LG, French AJ, Holland MK.

Mol Reprod Dev. 2008 Jan;75(1):48-59.

PMID:
17546630
[PubMed - indexed for MEDLINE]
7.

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.

Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.

PMID:
15211631
[PubMed - indexed for MEDLINE]
8.

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM.

Hum Mol Genet. 2009 Feb 1;18(3):525-34. doi: 10.1093/hmg/ddn380. Epub 2008 Nov 10.

PMID:
19000991
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.

PMID:
12707946
[PubMed - indexed for MEDLINE]
10.

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

Amano K, Nomura Y, Segawa M, Yamakawa K.

J Hum Genet. 2000;45(4):231-6.

PMID:
10944854
[PubMed - indexed for MEDLINE]
11.

Identification of MeCP2 mutations in a series of females with autistic disorder.

Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA.

Pediatr Neurol. 2003 Mar;28(3):205-11.

PMID:
12770674
[PubMed - indexed for MEDLINE]
12.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

Brain Dev. 2001 Dec;23 Suppl 1:S138-43.

PMID:
11738860
[PubMed - indexed for MEDLINE]
13.

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C.

Eur J Hum Genet. 2001 Jul;9(7):556-8.

PMID:
11464249
[PubMed - indexed for MEDLINE]
Free Article
14.

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.

Buschdorf JP, Strätling WH.

J Mol Med (Berl). 2004 Feb;82(2):135-43. Epub 2003 Nov 15.

PMID:
14618241
[PubMed - indexed for MEDLINE]
15.

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Hum Genet. 2002 Oct;111(4-5):305-9. Epub 2002 Aug 14. Erratum in: Hum Genet. 2003 Apr;112(4):436.

PMID:
12384770
[PubMed - indexed for MEDLINE]
16.

Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes.

Hendrich B, Abbott C, McQueen H, Chambers D, Cross S, Bird A.

Mamm Genome. 1999 Sep;10(9):906-12.

PMID:
10441743
[PubMed - indexed for MEDLINE]
17.

[Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients].

Wang SM, Li M, Yang YL, Pan H, Liu J, Pan KF, Bu DF.

Beijing Da Xue Xue Bao. 2013 Apr 18;45(2):197-201. Chinese.

PMID:
23591336
[PubMed - indexed for MEDLINE]
Free Article
18.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.

BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75.

PMID:
22909152
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M.

J Med Genet. 2003 Jul;40(7):487-93.

PMID:
12843318
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

MeCP2 gene mutation analysis in autistic boys with developmental regression.

Xi CY, Ma HW, Lu Y, Zhao YJ, Hua TY, Zhao Y, Ji YH.

Psychiatr Genet. 2007 Apr;17(2):113-6.

PMID:
17413451
[PubMed - indexed for MEDLINE]

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