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Journal Abstract Search

279 related items for PubMed ID: 36348371

  • 1. 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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  • 2. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
    Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.
    Hum Mutat; 2014 Aug 08; 35(8):998-1010. PubMed ID: 24838473
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  • 3. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
    Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR.
    Eur J Hum Genet; 2015 Jun 08; 23(6):808-16. PubMed ID: 25370034
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  • 6. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
    Hum Mol Genet; 2018 Oct 15; 27(20):3488-3497. PubMed ID: 30281091
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  • 7. Genetic and epigenetic contributors to FSHD.
    Daxinger L, Tapscott SJ, van der Maarel SM.
    Curr Opin Genet Dev; 2015 Aug 15; 33():56-61. PubMed ID: 26356006
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  • 9. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
    Guruju NM, Jump V, Lemmers R, Van Der Maarel S, Liu R, Nallamilli BR, Shenoy S, Chaubey A, Koppikar P, Rose R, Khadilkar S, Hegde M.
    Neurol Genet; 2023 Dec 15; 9(6):e200107. PubMed ID: 38021397
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  • 11. Facioscapulohumeral muscular dystrophy.
    Sacconi S, Salviati L, Desnuelle C.
    Biochim Biophys Acta; 2015 Apr 15; 1852(4):607-14. PubMed ID: 24882751
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  • 13. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
    Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM.
    Neurology; 2020 Jun 09; 94(23):e2441-e2447. PubMed ID: 32467133
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  • 15. 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 09; 56(12):828-837. PubMed ID: 31676591
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  • 17. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
    van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.
    Eur J Hum Genet; 2016 Jan 09; 24(1):78-85. PubMed ID: 25782668
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  • 19. 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 09; 26(12):844-852. PubMed ID: 27816329
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