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Results: 1 to 20 of 72

1.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
16080119
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
6.

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
[PubMed - indexed for MEDLINE]
7.

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A.

Clin Dysmorphol. 2009 Apr;18(2):78-82. doi: 10.1097/MCD.0b013e32831e19cd.

PMID:
19057379
[PubMed - indexed for MEDLINE]
8.

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]
9.

Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins.

Gartler SM, Varadarajan KR, Luo P, Canfield TK, Traynor J, Francke U, Hansen RS.

BMC Biol. 2004 Sep 20;2:21.

PMID:
15377381
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.

Amin R, Riekstins A, Al-Saleh S, Massicotte C, Coates AL, MacLusky I.

Can Respir J. 2011 Mar-Apr;18(2):87-9.

PMID:
21499593
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.

Eur J Hum Genet. 2009 Apr;17(4):434-43. doi: 10.1038/ejhg.2008.192. Epub 2008 Oct 15.

PMID:
18854860
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

Hammer S, Dorrani N, Hartiala J, Stein S, Schanen NC.

Am J Med Genet A. 2003 Oct 15;122A(3):223-6.

PMID:
12966522
[PubMed - indexed for MEDLINE]
16.

Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells.

Marchi M, Guarda A, Bergo A, Landsberger N, Kilstrup-Nielsen C, Ratto GM, Costa M.

Epigenetics. 2007 Sep;2(3):187-97. Epub 2007 Sep 18.

PMID:
17965612
[PubMed - indexed for MEDLINE]
Free Article
17.

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ.

J Child Neurol. 2004 Jul;19(7):503-8.

PMID:
15526954
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
18385275
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

Lee P, Su YN, Yu CJ, Yang PC, Wu HD.

Chest. 2009 Feb;135(2):537-44. doi: 10.1378/chest.08-1664.

PMID:
19201717
[PubMed - indexed for MEDLINE]

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