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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

317 related items for PubMed ID: 29402602

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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; 23(6):808-16. PubMed ID: 25370034
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  • 5. Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
    Kovanda A, Lovrečić L, Rudolf G, Babic Bozovic I, Jaklič H, Leonardis L, Peterlin B.
    Genes (Basel); 2023 Nov 30; 14(12):. PubMed ID: 38136988
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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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  • 8. [Facioscapulohumeral muscular dystrophy type 2].
    Sacconi S, Desnuelle C.
    Rev Neurol (Paris); 2013 Oct 15; 169(8-9):564-72. PubMed ID: 23969240
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  • 9. 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 15; 24(1):78-85. PubMed ID: 25782668
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  • 11. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
    Winston J, Duerden L, Mort M, Frayling IM, Rogers MT, Upadhyaya M.
    Eur J Hum Genet; 2015 Jan 15; 23(1):67-71. PubMed ID: 24755953
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  • 12. 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 15; 35(8):998-1010. PubMed ID: 24838473
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  • 15. Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗).
    Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, Takehisa Y, Nishino I, Abe K.
    J Clin Neurosci; 2018 Dec 15; 58():215-217. PubMed ID: 30327220
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  • 17. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
    Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.
    Neuromuscul Disord; 2013 Dec 15; 23(12):975-80. PubMed ID: 24128691
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