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Results: 1 to 20 of 140

1.

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.

J Med Genet. 2005 Feb;42(2):e12. No abstract available.

PMID:
15689435
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.

Am J Hum Genet. 2005 Sep;77(3):442-53. Epub 2005 Jul 29.

PMID:
16080119
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.

Pediatrics. 2006 Dec;118(6):e1687-95. Epub 2006 Nov 6.

PMID:
17088400
[PubMed - indexed for MEDLINE]
Free Article
4.

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

Curr Opin Genet Dev. 2006 Jun;16(3):276-81. Epub 2006 May 2. Review.

PMID:
16647848
[PubMed - indexed for MEDLINE]
5.

Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.

Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y.

J Neuropathol Exp Neurol. 2007 Feb;66(2):117-23.

PMID:
17278996
[PubMed - indexed for MEDLINE]
6.

[Rett syndrome: clinical and molecular aspects].

Záhoráková D, Zeman J, Martásek P.

Cas Lek Cesk. 2007;146(8):647-52. Review. Czech.

PMID:
17874730
[PubMed - indexed for MEDLINE]
7.

MECP2 mutations in Serbian Rett syndrome patients.

Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.

Acta Neurol Scand. 2007 Dec;116(6):413-9.

PMID:
17986102
[PubMed - indexed for MEDLINE]
8.

Gene symbol: MECP2. Disease: Rett syndrome (atypical).

Penagarikano O, Martinez-Bouzas C, Mínguez M, Sanz-Parra A, García-Alegría E, Beristain E, Tejada MI.

Hum Genet. 2005 Dec;118(3-4):547. No abstract available.

PMID:
16521306
[PubMed - indexed for MEDLINE]
9.

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):799-806. doi: 10.1002/ajmg.b.30683.

PMID:
18165974
[PubMed - indexed for MEDLINE]
10.

Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.

Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S.

J Child Neurol. 2009 Jun;24(6):772-4. doi: 10.1177/0883073808327834. Epub 2009 Feb 2.

PMID:
19189931
[PubMed - indexed for MEDLINE]
11.

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

Shi J, Shibayama A, Liu Q, Nguyen VQ, Feng J, Santos M, Temudo T, Maciel P, Sommer SS.

Hum Mutat. 2005 May;25(5):505.

PMID:
15841480
[PubMed - indexed for MEDLINE]
12.

Rett syndrome: from the gene to the disease.

Matijevic T, Knezevic J, Slavica M, Pavelic J.

Eur Neurol. 2009;61(1):3-10. doi: 10.1159/000165342. Epub 2008 Oct 24. Review.

PMID:
18948693
[PubMed - indexed for MEDLINE]
13.

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A.

Clin Genet. 2010 Aug;78(2):175-80. doi: 10.1111/j.1399-0004.2010.01371.x. Epub 2010 Jan 5.

PMID:
20236124
[PubMed - indexed for MEDLINE]
14.

Molecular diagnosis of Rett syndrome.

Huppke P, Gärtner J.

J Child Neurol. 2005 Sep;20(9):732-6. Review.

PMID:
16225827
[PubMed - indexed for MEDLINE]
15.

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F.

Cytogenet Genome Res. 2011;135(2):93-101. doi: 10.1159/000330917. Epub 2011 Sep 16.

PMID:
21934280
[PubMed - indexed for MEDLINE]
16.

Large genomic rearrangements in MECP2.

Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.

Hum Mutat. 2005 Mar;25(3):324.

PMID:
15712379
[PubMed - indexed for MEDLINE]
17.

Identification of cis-regulatory elements for MECP2 expression.

Liu J, Francke U.

Hum Mol Genet. 2006 Jun 1;15(11):1769-82. Epub 2006 Apr 13.

PMID:
16613900
[PubMed - indexed for MEDLINE]
Free Article
18.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.

Genet Med. 2006 Dec;8(12):784-92.

PMID:
17172942
[PubMed - indexed for MEDLINE]
19.

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, Morris MA.

Brain Dev. 2007 Jan;29(1):47-50. Epub 2006 Jul 17.

PMID:
16844334
[PubMed - indexed for MEDLINE]
20.

Multiple de novo mutations in the MECP2 gene.

Bunyan DJ, Robinson DO.

Genet Test. 2008 Sep;12(3):373-5. doi: 10.1089/gte.2008.0012.

PMID:
18652533
[PubMed - indexed for MEDLINE]

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