BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 21623770)

  • 1. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
    Carvalho CM; Bartnik M; Pehlivan D; Fang P; Shen J; Lupski JR
    Clin Genet; 2012 Jun; 81(6):532-41. PubMed ID: 21623770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
    Kitsiou-Tzeli S; Konstantinidou A; Sofocleous C; Kosma K; Syrmou A; Giannikou K; Sifakis S; Makrythanasis P; Tzetis M
    Birth Defects Res A Clin Mol Teratol; 2012 Jun; 94(6):494-8. PubMed ID: 22511562
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
    Bahrambeigi V; Song X; Sperle K; Beck CR; Hijazi H; Grochowski CM; Gu S; Seeman P; Woodward KJ; Carvalho CMB; Hobson GM; Lupski JR
    Genome Med; 2019 Dec; 11(1):80. PubMed ID: 31818324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
    Zhang L; Wang J; Zhang C; Li D; Carvalho CMB; Ji H; Xiao J; Wu Y; Zhou W; Wang H; Jin L; Luo Y; Wu X; Lupski JR; Zhang F; Jiang Y
    Hum Mol Genet; 2017 May; 26(10):1927-1941. PubMed ID: 28334874
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
    Inoue K; Kanai M; Tanabe Y; Kubota T; Kashork CD; Wakui K; Fukushima Y; Lupski JR; Shaffer LG
    Prenat Diagn; 2001 Dec; 21(13):1133-6. PubMed ID: 11787038
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
    Regis S; Biancheri R; Bertini E; Burlina A; Lualdi S; Bianco MG; Devescovi R; Rossi A; Uziel G; Filocamo M
    Clin Genet; 2008 Mar; 73(3):279-87. PubMed ID: 18190592
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
    Clark K; Sakowski L; Sperle K; Banser L; Landel CP; Bessert DA; Skoff RP; Hobson GM
    J Neurosci; 2013 Jul; 33(29):11788-99. PubMed ID: 23864668
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P; Muñoz-Calero M; Vallespín E; Campistol J; Martorell L; Ruiz-Falcó MJ; Santana A; Pons R; Dinopoulos A; Sierra C; Nevado J; Molano J
    Clin Genet; 2013 Dec; 84(6):566-71. PubMed ID: 23347225
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
    Woodward K; Cundall M; Palmer R; Surtees R; Winter RM; Malcolm S
    Am J Med Genet A; 2003 Apr; 118A(1):15-24. PubMed ID: 12605435
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.