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Items: 1 to 20 of 77

1.

Novel clinical finding in MECP2 duplication syndrome.

Budisteanu M, Papuc SM, Tutulan-Cunita A, Budisteanu B, Arghir A.

Eur Child Adolesc Psychiatry. 2011 Jul;20(7):373-5. doi: 10.1007/s00787-011-0184-2. Epub 2011 May 18. No abstract available.

PMID:
21590509
2.

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?

McWilliam C, Cooke A, Lobo D, Warner J, Taylor M, Tolmie JL.

Eur J Paediatr Neurol. 2010 May;14(3):267-9. doi: 10.1016/j.ejpn.2009.06.007. Epub 2009 Jul 9.

PMID:
19592282
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
4.

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.

5.

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.

J Child Neurol. 2008 Jan;23(1):22-5. doi: 10.1177/0883073807307077.

PMID:
18184939
6.

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
7.

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.

8.

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.

Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1. No abstract available.

PMID:
19018795
9.

High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.

Campos M Jr, Churchman SM, Santos-Rebouças CB, Ponchel F, Pimentel MM.

J Mol Neurosci. 2010 May;41(1):105-9. doi: 10.1007/s12031-009-9296-2. Epub 2009 Oct 6.

PMID:
19806472
10.

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
11.

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.

Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21.

12.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

13.

MECP2 duplication in a patient with congenital central hypoventilation.

Belligni EF, Palmer RW, Hennekam RC.

Am J Med Genet A. 2010 Jun;152A(6):1591-3. doi: 10.1002/ajmg.a.33311. No abstract available.

PMID:
20503343
14.

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M.

Clin Genet. 2006 Aug;70(2):140-4.

PMID:
16879196
15.

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
16.

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
17.

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT.

Clin Dysmorphol. 2009 Jan;18(1):9-12.

PMID:
19090026
18.

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

Ventura P, Galluzzi R, Bacca SM, Giorda R, Massagli A.

Neurology. 2006 Sep 12;67(5):867-8.

PMID:
16966553
19.

Analysis of MECP2 gene copy number in boys with autism.

Xi CY, Lu Y, Tan YH, Hua TY, Zhao YJ, Liu XM, Gao H.

J Child Neurol. 2011 May;26(5):570-3. doi: 10.1177/0883073810387138.

PMID:
21531908
20.

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

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