172 related articles for article (PubMed ID: 16207216)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Lee JA; Carvalho CM; Lupski JR
Cell; 2007 Dec; 131(7):1235-47. PubMed ID: 18160035
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F; Gauthier-Barichard F; Mimault C; Isabelle V; Courtois V; Giraud G; Dastugue B; Boespflug-Tanguy O
Eur J Hum Genet; 2000 Nov; 8(11):837-45. PubMed ID: 11093273
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Lee JA; Cheung SW; Ward PA; Inoue K; Lupski JR
Prenat Diagn; 2005 Dec; 25(13):1188-91. PubMed ID: 16353282
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
Vaurs-Barriere C; Bonnet-Dupeyron MN; Combes P; Gauthier-Barichard F; Reveles XT; Schiffmann R; Bertini E; Rodriguez D; Vago P; Armour JA; Saugier-Veber P; Frebourg T; Leach RJ; Boespflug-Tanguy O
Ann Hum Genet; 2006 Jan; 70(Pt 1):66-77. PubMed ID: 16441258
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].
Blanco-Barca MO; Eirís-Puñal J; Soler-Regal C; Castro-Gago M
Rev Neurol; 2003 Sep 1-15; 37(5):436-8. PubMed ID: 14533091
[TBL] [Abstract][Full Text] [Related]
18. Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.
Mikesová E; Baránková L; Sakmaryová I; Tatarková I; Seeman P
Genet Test; 2006; 10(3):215-20. PubMed ID: 17020474
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of Pelizaeus-Merzbacher disease.
Garbern J; Hobson G
Prenat Diagn; 2002 Nov; 22(11):1033-5. PubMed ID: 12424770
[No Abstract] [Full Text] [Related]
20. CNS myelination and PLP gene dosage.
Woodward K; Malcolm S
Pharmacogenomics; 2001 Aug; 2(3):263-72. PubMed ID: 11535114
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
