These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 31676591)

  • 1. Intronic
    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; 56(12):828-837. PubMed ID: 31676591
    [TBL] [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; 24(1):78-85. PubMed ID: 25782668
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Facioscapulohumeral muscular dystrophy.
    Sacconi S; Salviati L; Desnuelle C
    Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
    Sasaki-Honda M; Jonouchi T; Arai M; Hotta A; Mitsuhashi S; Nishino I; Matsuda R; Sakurai H
    Hum Mol Genet; 2018 Dec; 27(23):4024-4035. PubMed ID: 30107443
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 10(12):1133-42. PubMed ID: 26575099
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 93(4):744-51. PubMed ID: 24075187
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 44(12):1370-4. PubMed ID: 23143600
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 147(2):414-426. PubMed ID: 37703328
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 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; 35(8):998-1010. PubMed ID: 24838473
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 27(4):716-731. PubMed ID: 29281018
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 27(20):3488-3497. PubMed ID: 30281091
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
    Lim JW; Wong CJ; Yao Z; Tawil R; van der Maarel SM; Miller DG; Tapscott SJ; Filippova GN
    Hum Mol Genet; 2018 Aug; 27(15):2644-2657. PubMed ID: 29741619
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 7(1):12. PubMed ID: 28587678
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
    Balog J; Goossens R; Lemmers RJLF; Straasheijm KR; van der Vliet PJ; Heuvel AVD; Cambieri C; Capet N; Feasson L; Manel V; Contet J; Kriek M; Donlin-Smith CM; Ruivenkamp CAL; Heard P; Tapscott SJ; Cody JD; Tawil R; Sacconi S; van der Maarel SM
    J Med Genet; 2018 Jul; 55(7):469-478. PubMed ID: 29563141
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 23(1):67-71. PubMed ID: 24755953
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous nonsense variant in
    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; 94(23):e2441-e2447. PubMed ID: 32467133
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 20(1):517. PubMed ID: 36348371
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
    Gaillard MC; Puppo F; Roche S; Dion C; Campana ES; Mariot V; Chaix C; Vovan C; Mazaleyrat K; Tasmadjian A; Bernard R; Dumonceaux J; Attarian S; Lévy N; Nguyen K; Magdinier F; Bartoli M
    BMC Med Genet; 2016 Sep; 17(1):66. PubMed ID: 27634379
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.