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Journal Abstract Search

394 related items for PubMed ID: 25256356

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

  • 2. 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 01; 24(1):78-85. PubMed ID: 25782668
    [Abstract] [Full Text] [Related]

  • 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 01; 23(6):808-16. PubMed ID: 25370034
    [Abstract] [Full Text] [Related]

  • 4. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
    Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
    Am J Hum Genet; 2013 Oct 03; 93(4):744-51. PubMed ID: 24075187
    [Abstract] [Full Text] [Related]

  • 5. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
    Nat Genet; 2012 Dec 03; 44(12):1370-4. PubMed ID: 23143600
    [Abstract] [Full Text] [Related]

  • 6. 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 03; 35(8):998-1010. PubMed ID: 24838473
    [Abstract] [Full Text] [Related]

  • 7. Genetic and epigenetic contributors to FSHD.
    Daxinger L, Tapscott SJ, van der Maarel SM.
    Curr Opin Genet Dev; 2015 Aug 03; 33():56-61. PubMed ID: 26356006
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
    de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.
    Hum Mol Genet; 2018 Feb 15; 27(4):716-731. PubMed ID: 29281018
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
    Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM.
    Brain; 2024 Feb 01; 147(2):414-426. PubMed ID: 37703328
    [Abstract] [Full Text] [Related]

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  • 12. Clinical features of facioscapulohumeral muscular dystrophy 2.
    de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.
    Neurology; 2010 Oct 26; 75(17):1548-54. PubMed ID: 20975055
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  • 14. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
    Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.
    Epigenetics; 2015 Oct 26; 10(12):1133-42. PubMed ID: 26575099
    [Abstract] [Full Text] [Related]

  • 15. Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
    Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.
    Hum Mutat; 2015 Jul 26; 36(7):679-83. PubMed ID: 25820463
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. FSHD1 and FSHD2 form a disease continuum.
    Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM.
    Neurology; 2019 May 07; 92(19):e2273-e2285. PubMed ID: 30979860
    [Abstract] [Full Text] [Related]

  • 18. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
    Greco A, Goossens R, van Engelen B, van der Maarel SM.
    Clin Genet; 2020 Jun 07; 97(6):799-814. PubMed ID: 32086799
    [Abstract] [Full Text] [Related]

  • 19. A focal domain of extreme demethylation within D4Z4 in FSHD2.
    Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M.
    Neurology; 2013 Jan 22; 80(4):392-9. PubMed ID: 23284062
    [Abstract] [Full Text] [Related]

  • 20. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
    Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.
    Skelet Muscle; 2017 Jun 06; 7(1):12. PubMed ID: 28587678
    [Abstract] [Full Text] [Related]

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