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Journal Abstract Search

172 related items for PubMed ID: 38691604

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  • 4. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.
    Banerji CRS, Zammit PS.
    EMBO Mol Med; 2021 Aug 09; 13(8):e13695. PubMed ID: 34151531
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  • 5. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
    Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.
    Am J Hum Genet; 2007 Nov 09; 81(5):884-94. PubMed ID: 17924332
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  • 7. Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures.
    Haynes P, Kernan K, Zhou SL, Miller DG.
    Skelet Muscle; 2017 Jun 21; 7(1):13. PubMed ID: 28637492
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  • 8. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
    Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM.
    J Med Genet; 2022 Feb 21; 59(2):180-188. PubMed ID: 33436523
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  • 9. PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle.
    Banerji CRS, Panamarova M, Hebaishi H, White RB, Relaix F, Severini S, Zammit PS.
    Nat Commun; 2017 Dec 18; 8(1):2152. PubMed ID: 29255294
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  • 10. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
    Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.
    Hum Genet; 2012 Mar 18; 131(3):325-40. PubMed ID: 21984394
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  • 11. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
    Hum Mutat; 2009 Oct 18; 30(10):1449-59. PubMed ID: 19728363
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  • 12. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
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  • 13. Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
    Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM.
    J Med Genet; 2019 Dec 08; 56(12):828-837. PubMed ID: 31676591
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  • 14. [Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy].
    Wang N, Wu ZY, Wang CD, Wang ZQ, Lin MT, Fang L, Murong SX.
    Zhonghua Yi Xue Za Zhi; 2003 Apr 25; 83(8):650-3. PubMed ID: 12887821
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  • 15. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
    Chromosoma; 2007 Apr 25; 116(2):107-16. PubMed ID: 17131163
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  • 16. [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
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  • 17. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.
    Hum Mol Genet; 2015 Feb 01; 24(3):659-69. PubMed ID: 25256356
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  • 18. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
    Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM.
    Am J Hum Genet; 2010 Mar 12; 86(3):364-77. PubMed ID: 20206332
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  • 19. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation.
    Bodega B, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E.
    BMC Biol; 2009 Jul 16; 7():41. PubMed ID: 19607661
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  • 20. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.
    Gatica LV, Rosa AL.
    Neuromuscul Disord; 2016 Dec 16; 26(12):844-852. PubMed ID: 27816329
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