BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

402 related articles for article (PubMed ID: 15689360)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES; Moon HK; Park YH; Garbern J; Hobson GM
    J Neurol Sci; 2004 Sep; 224(1-2):83-7. PubMed ID: 15450775
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
    Hoffman-Zacharska D; Mierzewska H; Szczepanik E; Poznański J; Mazurczak T; Jakubiuk-Tomaszuk A; Mądry J; Kierdaszuk A; Bal J
    Med Wieku Rozwoj; 2013; 17(4):293-300. PubMed ID: 24519770
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
    Shimojima K; Mano T; Kashiwagi M; Tanabe T; Sugawara M; Okamoto N; Arai H; Yamamoto T
    Eur J Med Genet; 2012 Jun; 55(6-7):400-3. PubMed ID: 22490426
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease.
    Karim SA; Barrie JA; McCulloch MC; Montague P; Edgar JM; Kirkham D; Anderson TJ; Nave KA; Griffiths IR; McLaughlin M
    Glia; 2007 Mar; 55(4):341-51. PubMed ID: 17133418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T; Shimojima K
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.
    Warshawsky I; Chernova OB; Hübner CA; Stindl R; Henneke M; Gal A; Natowicz MR
    Clin Chem; 2006 Jul; 52(7):1267-75. PubMed ID: 16644873
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.
    Koizume S; Takizawa S; Fujita K; Aida N; Yamashita S; Miyagi Y; Osaka H
    Neuroscience; 2006 Sep; 141(4):1861-9. PubMed ID: 16844304
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
    Masliah-Planchon J; Dupont C; Vartzelis G; Trimouille A; Eymard-Pierre E; Gay-Bellile M; Renaldo F; Dorboz I; Pagan C; Quentin S; Elmaleh M; Kotsogianni C; Konstantelou E; Drunat S; Tabet AC; Boespflug-Tanguy O
    BMC Med Genet; 2015 Sep; 16():77. PubMed ID: 26329556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
    Hoffman-Zacharska D; Kmieć T; Poznański J; Jurek M; Bal J
    Brain Dev; 2013 Oct; 35(9):877-80. PubMed ID: 23245814
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 21.