349 related articles for article (PubMed ID: 30911870)
1. Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti S; Colantoni L; Strafella C; Galota RM; Caputo V; Campoli G; Pagliaroli G; Carboni S; Mela J; Peconi C; Gambardella S; Cascella R; Giardina E
Neurogenetics; 2019 May; 20(2):57-64. PubMed ID: 30911870
[TBL] [Abstract][Full Text] [Related]
2. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Nguyen K; Puppo F; Roche S; Gaillard MC; Chaix C; Lagarde A; Pierret M; Vovan C; Olschwang S; Salort-Campana E; Attarian S; Bartoli M; Bernard R; Magdinier F; Levy N
Hum Mutat; 2017 Oct; 38(10):1432-1441. PubMed ID: 28744936
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.
Alavi A; Esmaeili S; Nafissi S; Kahrizi K; Najmabadi H
Neuromuscul Disord; 2018 Apr; 28(4):303-314. PubMed ID: 29402602
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Facioscapulohumeral muscular dystrophy.
Tawil R
Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
[TBL] [Abstract][Full Text] [Related]
13. Facioscapulohumeral Muscular Dystrophy.
DeSimone AM; Pakula A; Lek A; Emerson CP
Compr Physiol; 2017 Sep; 7(4):1229-1279. PubMed ID: 28915324
[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. 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]
17. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.
Haynes P; Bomsztyk K; Miller DG
Epigenetics Chromatin; 2018 Aug; 11(1):47. PubMed ID: 30122154
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.
Gatica LV; Rosa AL
Neuromuscul Disord; 2016 Dec; 26(12):844-852. PubMed ID: 27816329
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]