218 related articles for article (PubMed ID: 10878666)
1. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
Woodward K; Kirtland K; Dlouhy S; Raskind W; Bird T; Malcolm S; Abeliovich D
Eur J Hum Genet; 2000 Jun; 8(6):449-54. PubMed ID: 10878666
[TBL] [Abstract][Full Text] [Related]
2. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
Gao Q; Thurston VC; Vance GH; Dlouhy SR; Hodes ME
Clin Genet; 2005 Nov; 68(5):466-7. PubMed ID: 16207216
[TBL] [Abstract][Full Text] [Related]
3. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Inoue K; Osaka H; Imaizumi K; Nezu A; Takanashi J; Arii J; Murayama K; Ono J; Kikawa Y; Mito T; Shaffer LG; Lupski JR
Ann Neurol; 1999 May; 45(5):624-32. PubMed ID: 10319885
[TBL] [Abstract][Full Text] [Related]
4. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
Wang JM; Wu Y; Wang HF; Deng YH; Yang YL; Qin J; Li XY; Wu XR; Jiang YW
Chin Med J (Engl); 2008 Sep; 121(17):1638-42. PubMed ID: 19024090
[TBL] [Abstract][Full Text] [Related]
5. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P; Paderova K; Benes V; Sistermans EA
Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
[TBL] [Abstract][Full Text] [Related]
6. Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
Matsuo M; Muroya K; Kosaki K; Ishii T; Fukushima Y; Anzo M; Ogata T
Am J Med Genet; 1999 Sep; 86(1):44-50. PubMed ID: 10440827
[TBL] [Abstract][Full Text] [Related]
7. Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.
Orstavik KH; Scheibel E; Ingerslev J; Schwartz M
Thromb Haemost; 2000 Mar; 83(3):433-7. PubMed ID: 10744150
[TBL] [Abstract][Full Text] [Related]
8. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
Woodward KJ
Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
[TBL] [Abstract][Full Text] [Related]
9. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
[TBL] [Abstract][Full Text] [Related]
10. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Lee JA; Inoue K; Cheung SW; Shaw CA; Stankiewicz P; Lupski JR
Hum Mol Genet; 2006 Jul; 15(14):2250-65. PubMed ID: 16774974
[TBL] [Abstract][Full Text] [Related]
11. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.
Kibe T; Miyahara J; Yokochi K; Iwaki A
Brain Dev; 2009 Mar; 31(3):248-51. PubMed ID: 18783902
[TBL] [Abstract][Full Text] [Related]
12. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.
Orstavik KH; Orstavik RE; Eiklid K; Tranebjaerg L
Am J Med Genet; 1996 Jul; 64(1):31-4. PubMed ID: 8826445
[TBL] [Abstract][Full Text] [Related]
13. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
Shimojima K; Inoue T; Hoshino A; Kakiuchi S; Watanabe Y; Sasaki M; Nishimura A; Takeshita-Yanagisawa A; Tajima G; Ozawa H; Kubota M; Tohyama J; Sasaki M; Oka A; Saito K; Osawa M; Yamamoto T
Brain Dev; 2010 Mar; 32(3):171-9. PubMed ID: 19328639
[TBL] [Abstract][Full Text] [Related]
14. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
Plecko B; Stöckler-Ipsiroglu S; Gruber S; Mlynarik V; Moser E; Simbrunner J; Ebner F; Bernert G; Harrer G; Gal A; Prayer D
Neuropediatrics; 2003 Jun; 34(3):127-36. PubMed ID: 12910435
[TBL] [Abstract][Full Text] [Related]
15. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Wolf NI; Sistermans EA; Cundall M; Hobson GM; Davis-Williams AP; Palmer R; Stubbs P; Davies S; Endziniene M; Wu Y; Chong WK; Malcolm S; Surtees R; Garbern JY; Woodward KJ
Brain; 2005 Apr; 128(Pt 4):743-51. PubMed ID: 15689360
[TBL] [Abstract][Full Text] [Related]
16. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Hobson G; Stabley D; Funanage V; Marks H
Hum Mutat; 2001 Feb; 17(2):152. PubMed ID: 11180600
[TBL] [Abstract][Full Text] [Related]
17. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
Bonnet-Dupeyron MN; Combes P; Santander P; Cailloux F; Boespflug-Tanguy O; Vaurs-Barrière C
Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932
[TBL] [Abstract][Full Text] [Related]
18. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
Nagao M; Kadowaki J
J Hum Genet; 1998; 43(3):206-8. PubMed ID: 9747038
[TBL] [Abstract][Full Text] [Related]
19. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.
Sumita DR; Vainzof M; Campiotto S; Cerqueira AM; Cánovas M; Otto PA; Passos-Bueno MR; Zatz M
Am J Med Genet; 1998 Dec; 80(4):356-61. PubMed ID: 9856563
[TBL] [Abstract][Full Text] [Related]
20. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
Fonseca AC; Bonaldi A; Costa SS; Freitas MR; Kok F; Vianna-Morgante AM
Clin Genet; 2013 Feb; 83(2):169-74. PubMed ID: 22320281
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
