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Journal Abstract Search

186 related items for PubMed ID: 32170003

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

  • 2. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
    van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR.
    Am J Hum Genet; 2000 Jan; 66(1):26-35. PubMed ID: 10631134
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  • 3. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM.
    Am J Hum Genet; 2004 Jul; 75(1):44-53. PubMed ID: 15154112
    [Abstract] [Full Text] [Related]

  • 4. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
    Dai Y, Li P, Wang Z, Liang F, Yang F, Fang L, Huang Y, Huang S, Zhou J, Wang D, Cui L, Wang K.
    J Med Genet; 2020 Feb; 57(2):109-120. PubMed ID: 31506324
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  • 5. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
    Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R.
    Int J Mol Sci; 2020 Apr 10; 21(7):. PubMed ID: 32290091
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  • 6. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
    Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.
    J Med Genet; 2012 Mar 10; 49(3):171-8. PubMed ID: 22217918
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  • 7. 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]

  • 8. 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 04; 250(8):932-7. PubMed ID: 12928911
    [Abstract] [Full Text] [Related]

  • 9. [Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population].
    Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX.
    Zhonghua Yi Xue Za Zhi; 2009 Feb 10; 89(5):304-9. PubMed ID: 19563705
    [Abstract] [Full Text] [Related]

  • 10. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
    Erdmann H, Scharf F, Gehling S, Benet-Pagès A, Jakubiczka S, Becker K, Seipelt M, Kleefeld F, Knop KC, Prott EC, Hiebeler M, Montagnese F, Gläser D, Vorgerd M, Hagenacker T, Walter MC, Reilich P, Neuhann T, Zenker M, Holinski-Feder E, Schoser B, Abicht A.
    Brain; 2023 Apr 19; 146(4):1388-1402. PubMed ID: 36100962
    [Abstract] [Full Text] [Related]

  • 11. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
    Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M.
    Hum Genet; 2006 Mar 19; 119(1-2):23-8. PubMed ID: 16341710
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  • 13. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
    Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F.
    Neurology; 2014 Aug 19; 83(8):733-42. PubMed ID: 25031281
    [Abstract] [Full Text] [Related]

  • 14. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
    Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.
    J Med Genet; 2012 Jan 19; 49(1):41-6. PubMed ID: 21984748
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  • 15. 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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  • 17. Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
    Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM.
    Am J Pathol; 2012 Oct 10; 181(4):1387-401. PubMed ID: 22871573
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