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Journal Abstract Search

184 related items for PubMed ID: 11092764

  • 41.
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  • 42. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.
    Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR.
    Chromosome Res; 1994 May; 2(3):225-34. PubMed ID: 8069466
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  • 45. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
    van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE.
    Genomics; 2002 Feb; 79(2):210-7. PubMed ID: 11829491
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  • 46. Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.
    Morioka MS, Kitazume M, Osaki K, Wood J, Tanaka Y.
    PLoS One; 2016 Feb; 11(3):e0151963. PubMed ID: 27002334
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  • 47.
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  • 48. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.
    Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.
    J Neurol; 2003 Aug; 250(8):932-7. PubMed ID: 12928911
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  • 49. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
    Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
    J Med Genet; 2019 Sep; 56(9):590-601. PubMed ID: 31010831
    [Abstract] [Full Text] [Related]

  • 50. Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.
    Qiu L, Ye Z, Lin L, Wang L, Lin X, He J, Lin F, Xu G, Cai N, Jin M, Chen H, Lin M, Wang N, Wang Z.
    J Med Genet; 2020 Nov; 57(11):777-785. PubMed ID: 32170003
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  • 51. A simplified approach for FSHD molecular testing.
    Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC.
    Clin Chim Acta; 2014 Feb 15; 429():96-103. PubMed ID: 24321734
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  • 52. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.
    Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS.
    Proc Natl Acad Sci U S A; 2006 May 02; 103(18):6982-7. PubMed ID: 16632607
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  • 53. Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family.
    Clark LN, Koehler U, Ward DC, Wienberg J, Hewitt JE.
    Chromosoma; 1996 Sep 02; 105(3):180-9. PubMed ID: 8781186
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  • 54. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
    de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.
    Neurology; 2007 Sep 04; 69(10):1018-26. PubMed ID: 17785671
    [Abstract] [Full Text] [Related]

  • 55. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
    Lemmers RJLF, van der Vliet PJ, Granado DSL, van der Stoep N, Buermans H, van Schendel R, Schimmel J, de Visser M, van Coster R, Jeanpierre M, Laforet P, Upadhyaya M, van Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM.
    Hum Mol Genet; 2022 Mar 03; 31(5):748-760. PubMed ID: 34559225
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  • 56. [Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].
    Pikó H, Molnár MJ, Herczegfalvi A, Mayer P, Karcagi V.
    Orv Hetil; 2011 Sep 25; 152(39):1576-85. PubMed ID: 21920844
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  • 57. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
    Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST.
    Hum Mol Genet; 2004 Sep 01; 13(17):1857-71. PubMed ID: 15238509
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  • 58. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
    van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, de Jong PJ.
    Genomics; 1999 Oct 01; 61(1):55-65. PubMed ID: 10512680
    [Abstract] [Full Text] [Related]

  • 59. Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.
    Zhang YZ, Sun SC, Wu HC, Fan QS, Song YJ, Yu W, Jeanpierre M, Urtizberea JA.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 01; 22(4):380-2. PubMed ID: 16086272
    [Abstract] [Full Text] [Related]

  • 60. FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation.
    Wu ZY, Wang ZQ, Murong SX, Wang N.
    Neurology; 2004 Aug 10; 63(3):581-3. PubMed ID: 15304602
    [Abstract] [Full Text] [Related]

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