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 *

189 related articles for article (PubMed ID: 27389814)

  • 21. 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]  

  • 22. Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.
    Huang M; Zhang Q; Jiao J; Shi J; Xu Y; Zhang C; Zhou R; Liu W; Liang Y; Chen H; Wang Y; Xu Z; Hu P
    J Transl Med; 2024 May; 22(1):451. PubMed ID: 38741136
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.
    Statland JM; Tawil R
    Curr Opin Neurol; 2011 Oct; 24(5):423-8. PubMed ID: 21734574
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].
    Salort-Campana E; Nguyen K; Lévy N; Pouget J; Attarian S
    Rev Neurol (Paris); 2013; 169(8-9):573-82. PubMed ID: 24011979
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Facioscapulohumeral muscular dystrophy: the road to targeted therapies.
    Tihaya MS; Mul K; Balog J; de Greef JC; Tapscott SJ; Tawil R; Statland JM; van der Maarel SM
    Nat Rev Neurol; 2023 Feb; 19(2):91-108. PubMed ID: 36627512
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 92(19):e2273-e2285. PubMed ID: 30979860
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials.
    Ghasemi M; Emerson CP; Hayward LJ
    Cells; 2022 Feb; 11(4):. PubMed ID: 35203336
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
    Mul K; Voermans NC; Lemmers RJLF; Jonker MA; van der Vliet PJ; Padberg GW; van Engelen BGM; van der Maarel SM; Horlings CGC
    Clin Genet; 2018 Dec; 94(6):521-527. PubMed ID: 30211448
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Facioscapulohumeral Muscular Dystrophy.
    Mul K
    Continuum (Minneap Minn); 2022 Dec; 28(6):1735-1751. PubMed ID: 36537978
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
    Feng Q; Snider L; Jagannathan S; Tawil R; van der Maarel SM; Tapscott SJ; Bradley RK
    Elife; 2015 Jan; 4():. PubMed ID: 25564732
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
    Jones TI; Yan C; Sapp PC; McKenna-Yasek D; Kang PB; Quinn C; Salameh JS; King OD; Jones PL
    Clin Epigenetics; 2014; 6(1):23. PubMed ID: 25400706
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
    van den Heuvel A; Mahfouz A; Kloet SL; Balog J; van Engelen BGM; Tawil R; Tapscott SJ; van der Maarel SM
    Hum Mol Genet; 2019 Apr; 28(7):1064-1075. PubMed ID: 30445587
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Severe phenotype in infantile facioscapulohumeral muscular dystrophy.
    Klinge L; Eagle M; Haggerty ID; Roberts CE; Straub V; Bushby KM
    Neuromuscul Disord; 2006 Oct; 16(9-10):553-8. PubMed ID: 16934468
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
    Giardina E; Camaño P; Burton-Jones S; Ravenscroft G; Henning F; Magdinier F; van der Stoep N; van der Vliet PJ; Bernard R; Tomaselli PJ; Davis MR; Nishino I; Oflazer P; Race V; Vishnu VY; Williams V; Sobreira CFR; van der Maarel SM; Moore SA; Voermans NC; Lemmers RJLF
    Clin Genet; 2024 Jul; 106(1):13-26. PubMed ID: 38685133
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Genotype-phenotype correlations in FSHD.
    Zernov N; Skoblov M
    BMC Med Genomics; 2019 Mar; 12(Suppl 2):43. PubMed ID: 30871534
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
    LoRusso S; Johnson NE; McDermott MP; Eichinger K; Butterfield RJ; Carraro E; Higgs K; Lewis L; Mul K; Sacconi S; Sansone VA; Shieh P; van Engelen B; Wagner K; Wang L; Statland JM; Tawil R;
    BMC Neurol; 2019 Sep; 19(1):224. PubMed ID: 31506080
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
    Wohlgemuth M; Lemmers RJ; Jonker M; van der Kooi E; Horlings CG; van Engelen BG; van der Maarel SM; Padberg GW; Voermans NC
    Neurology; 2018 Jul; 91(5):e444-e454. PubMed ID: 29997197
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
    Calandra P; Cascino I; Lemmers RJ; Galluzzi G; Teveroni E; Monforte M; Tasca G; Ricci E; Moretti F; van der Maarel SM; Deidda G
    J Med Genet; 2016 May; 53(5):348-55. PubMed ID: 26831754
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.
    Statland JM; Donlin-Smith CM; Tapscott SJ; Lemmers RJ; van der Maarel SM; Tawil R
    Neurology; 2015 Dec; 85(24):2147-50. PubMed ID: 26561289
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.