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186 related items for PubMed ID: 11787038

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 16():77. PubMed ID: 26329556
    [Abstract] [Full Text] [Related]

  • 4. 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; 15(14):2250-65. PubMed ID: 16774974
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 128(Pt 4):743-51. PubMed ID: 15689360
    [Abstract] [Full Text] [Related]

  • 6. 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 Apr 15; 17(4):293-300. PubMed ID: 24519770
    [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 15; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 83(2):169-74. PubMed ID: 22320281
    [Abstract] [Full Text] [Related]

  • 9. Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease.
    Xue H, Yu A, Chen X, Lin N, Lin M, Huang H, Xu L.
    Aging (Albany NY); 2021 Jan 11; 13(1):1488-1497. PubMed ID: 33429367
    [Abstract] [Full Text] [Related]

  • 10. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 11; 53(1):3-8. PubMed ID: 23480352
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 11; 10(3):215-20. PubMed ID: 17020474
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 121(17):1638-42. PubMed ID: 19024090
    [Abstract] [Full Text] [Related]

  • 13. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
    Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.
    J Hum Genet; 2012 Sep 05; 57(9):580-6. PubMed ID: 22695888
    [Abstract] [Full Text] [Related]

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  • 15. Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
    Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R.
    Prenat Diagn; 2001 Aug 05; 21(8):668-71. PubMed ID: 11536268
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  • 17. 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 05; 35(9):877-80. PubMed ID: 23245814
    [Abstract] [Full Text] [Related]

  • 18. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
    Mądry J, Hoffman-Zacharska D, Królicki L, Jakuciński M, Friedman A.
    Neurol Neurochir Pol; 2010 Oct 05; 44(5):511-5. PubMed ID: 21082496
    [Abstract] [Full Text] [Related]

  • 19. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
    Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S.
    Am J Hum Genet; 2000 Jul 05; 67(1):14-22. PubMed ID: 10827108
    [Abstract] [Full Text] [Related]

  • 20. 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 05; 84(6):566-71. PubMed ID: 23347225
    [Abstract] [Full Text] [Related]

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