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Items: 1 to 20 of 152

1.

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
2.

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
3.

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
4.

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.

5.

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.

6.

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.

7.

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
8.

MECP2 duplication syndrome in both genders.

Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.

Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9.

PMID:
22877836
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.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
11.

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.

Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198.

PMID:
20082459
12.

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.

13.

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.

Am J Med Genet A. 2014 Apr;164A(4):924-33. doi: 10.1002/ajmg.a.36373. Epub 2014 Jan 29.

PMID:
24478188
14.

MECP2 duplication syndrome in a Chinese family.

Zhang Q, Zhao Y, Yang Y, Bao X.

BMC Med Genet. 2015 Dec 16;16:112. doi: 10.1186/s12881-015-0264-0.

15.

Novel L1CAM splice site mutation in a young male with L1 syndrome.

Rehnberg M, Jonasson J, Gunnarsson C.

Am J Med Genet A. 2011 Feb;155A(2):439-41. doi: 10.1002/ajmg.a.33803. Epub 2010 Dec 22. No abstract available.

PMID:
21271669
16.

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML.

J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5.

PMID:
20447653
17.

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
18.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.

Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107. Epub 2008 Apr 2.

19.

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
20.

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.

Eur J Hum Genet. 2006 May;14(5):549-54.

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