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Journal Abstract Search

196 related items for 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
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  • 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 02; 16():77. PubMed ID: 26329556
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  • 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 02; 83(2):169-74. PubMed ID: 22320281
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  • 6. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 02; 53(1):3-8. PubMed ID: 23480352
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  • 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 05; 121(17):1638-42. PubMed ID: 19024090
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  • 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 09; 11(1):80. PubMed ID: 31818324
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  • 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 Dec 09; 17(4):293-300. PubMed ID: 24519770
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  • 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 09; 21(13):1133-6. PubMed ID: 11787038
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  • 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 09; 25(13):1188-91. PubMed ID: 16353282
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  • 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 09; 73(3):279-87. PubMed ID: 18190592
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  • 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 09; 84(6):566-71. PubMed ID: 23347225
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  • 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 09; 8(6):449-54. PubMed ID: 10878666
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  • 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 01; 118A(1):15-24. PubMed ID: 12605435
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