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Journal Abstract Search

442 related items for PubMed ID: 12928911

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  • 3. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
    Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR.
    Neurology; 2007 Feb 20; 68(8):578-82. PubMed ID: 17229919
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  • 5. [Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].
    Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S.
    Nervenarzt; 2003 Feb 20; 74(2):151-8. PubMed ID: 12596016
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  • 6. 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
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  • 7. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
    Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S.
    Arch Neurol; 2003 Oct 04; 60(10):1421-5. PubMed ID: 14568813
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  • 8. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
    Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.
    Neuromuscul Disord; 2005 Jul 04; 15(7):471-5. PubMed ID: 15935668
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  • 9. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
    Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M.
    Hum Mol Genet; 2003 Nov 15; 12(22):2909-21. PubMed ID: 14506132
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  • 10. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
    Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.
    J Med Genet; 2004 Nov 15; 41(11):826-36. PubMed ID: 15520407
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  • 11. Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.
    Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S.
    J Neurol; 2003 Sep 15; 250(9):1084-7. PubMed ID: 14504970
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  • 12. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
    van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
    Nat Genet; 2003 Dec 15; 35(4):315-7. PubMed ID: 14634647
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  • 13. Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
    Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R.
    Sci Rep; 2020 Dec 10; 10(1):21648. PubMed ID: 33303865
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  • 14. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.
    Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.
    Neurology; 2007 Feb 20; 68(8):569-77. PubMed ID: 17151338
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  • 15. [Translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy].
    Su QX, Zhang C, Zeng Y, Lu XL, Liu XR, Wang ZH, Zhu YZ.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Oct 20; 25(5):581-4. PubMed ID: 14650163
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  • 16. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
    Goto K, Nishino I, Hayashi YK.
    Neuromuscul Disord; 2006 Apr 20; 16(4):256-61. PubMed ID: 16545566
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  • 17. Molecular diagnosis of facioscapulohumeral muscular dystrophy.
    Upadhyaya M, Cooper DN.
    Expert Rev Mol Diagn; 2002 Mar 20; 2(2):160-71. PubMed ID: 11962336
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  • 20. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.
    Lyle R, Wright TJ, Clark LN, Hewitt JE.
    Genomics; 1995 Aug 10; 28(3):389-97. PubMed ID: 7490072
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