204 related articles for article (PubMed ID: 38136988)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. [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]
7. Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S; Lemmers RJLF; Vishnu VY; Dominik N; Perrone B; Facchini S; Vegezzi E; Ravaglia S; Wilson L; van der Vliet PJ; Mishra R; Reyaz A; Ahmad T; Bhatia R; Polke JM; Srivastava MP; Cortese A; Houlden H; van der Maarel SM; Hanna MG; Bugiardini E
Biomolecules; 2023 Oct; 13(11):. PubMed ID: 38002249
[TBL] [Abstract][Full Text] [Related]
8. Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
Shim Y; Seo J; Lee ST; Choi JR; Choi YC; Shin S; Park HJ
Ann Lab Med; 2024 May; ():. PubMed ID: 38724225
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping.
Jiang J; Cai X; Qu H; Yao Q; He T; Yang M; Zhou H; Zhang X
Front Neurol; 2024; 15():1258831. PubMed ID: 38361638
[TBL] [Abstract][Full Text] [Related]
18. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Renard D; Taieb G; Garibaldi M; Maues De Paula A; Bernard R; Lagha N; Cristofari G; Vovan C; Chaix C; Lévy N; Khau Van Kien P; Sacconi S
Am J Med Genet A; 2018 Aug; 176(8):1760-1763. PubMed ID: 30055030
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
