BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

264 related articles for article (PubMed ID: 30979860)

  • 1. 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]  

  • 2. 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]  

  • 3. CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
    Rieken A; Bossler AD; Mathews KD; Moore SA
    Neurology; 2021 Feb; 96(7):e1054-e1062. PubMed ID: 33443126
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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; 24(3):659-69. PubMed ID: 25256356
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Facioscapulohumeral muscular dystrophy type 2].
    Sacconi S; Desnuelle C
    Rev Neurol (Paris); 2013; 169(8-9):564-72. PubMed ID: 23969240
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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; 75(17):1548-54. PubMed ID: 20975055
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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; 9(6):e200107. PubMed ID: 38021397
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 14(12):. PubMed ID: 38136988
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
    Erdmann H; Scharf F; Gehling S; Benet-Pagès A; Jakubiczka S; Becker K; Seipelt M; Kleefeld F; Knop KC; Prott EC; Hiebeler M; Montagnese F; Gläser D; Vorgerd M; Hagenacker T; Walter MC; Reilich P; Neuhann T; Zenker M; Holinski-Feder E; Schoser B; Abicht A
    Brain; 2023 Apr; 146(4):1388-1402. PubMed ID: 36100962
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.