293 related articles for article (PubMed ID: 17924332)
1. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Lemmers RJ; Wohlgemuth M; van der Gaag KJ; van der Vliet PJ; van Teijlingen CM; de Knijff P; Padberg GW; Frants RR; van der Maarel SM
Am J Hum Genet; 2007 Nov; 81(5):884-94. PubMed ID: 17924332
[TBL] [Abstract][Full Text] [Related]
2. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
Lemmers RJ; Wohlgemuth M; Frants RR; Padberg GW; Morava E; van der Maarel SM
Am J Hum Genet; 2004 Dec; 75(6):1124-30. PubMed ID: 15467981
[TBL] [Abstract][Full Text] [Related]
3. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
Wang ZQ; Wang N; van der Maarel S; Murong SX; Wu ZY
Eur J Hum Genet; 2011 Jan; 19(1):64-9. PubMed ID: 20736973
[TBL] [Abstract][Full Text] [Related]
4. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
Thomas NS; Wiseman K; Spurlock G; MacDonald M; Ustek D; Upadhyaya M
J Med Genet; 2007 Mar; 44(3):215-8. PubMed ID: 16987949
[TBL] [Abstract][Full Text] [Related]
5. [Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population].
Wang ZQ; Wu ZY; Wang N; Lin MT; Murong SX
Zhonghua Yi Xue Za Zhi; 2009 Feb; 89(5):304-9. PubMed ID: 19563705
[TBL] [Abstract][Full Text] [Related]
6. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
Dai Y; Li P; Wang Z; Liang F; Yang F; Fang L; Huang Y; Huang S; Zhou J; Wang D; Cui L; Wang K
J Med Genet; 2020 Feb; 57(2):109-120. PubMed ID: 31506324
[TBL] [Abstract][Full Text] [Related]
7. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Lemmers RJ; de Kievit P; Sandkuijl L; Padberg GW; van Ommen GJ; Frants RR; van der Maarel SM
Nat Genet; 2002 Oct; 32(2):235-6. PubMed ID: 12355084
[TBL] [Abstract][Full Text] [Related]
8. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
Buzhov BT; Lemmers RJ; Tournev I; van der Wielen MJ; Ishpekova B; Petkov R; Petrova J; Frants RR; Padberg GW; van der Maarel SM
Neuromuscul Disord; 2005 Jul; 15(7):471-5. PubMed ID: 15935668
[TBL] [Abstract][Full Text] [Related]
9. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
Rossi M; Ricci E; Colantoni L; Galluzzi G; Frusciante R; Tonali PA; Felicetti L
BMC Med Genet; 2007 Mar; 8():8. PubMed ID: 17335567
[TBL] [Abstract][Full Text] [Related]
10. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
Lemmers RJ; Osborn M; Haaf T; Rogers M; Frants RR; Padberg GW; Cooper DN; van der Maarel SM; Upadhyaya M
Neurology; 2003 Jul; 61(2):178-83. PubMed ID: 12874395
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
Lemmers RJ; Van Overveld PG; Sandkuijl LA; Vrieling H; Padberg GW; Frants RR; van der Maarel SM
Am J Hum Genet; 2004 Jul; 75(1):44-53. PubMed ID: 15154112
[TBL] [Abstract][Full Text] [Related]
13. Genomic analysis of facioscapulohumeral muscular dystrophy.
Clapp J; Bolland DJ; Hewitt JE
Brief Funct Genomic Proteomic; 2003 Oct; 2(3):213-23. PubMed ID: 15239924
[TBL] [Abstract][Full Text] [Related]
14. [Analysis of alleles 4qA and 4qB of the chromosome 4q subtelomere in Chinese Han population].
Chen ZJ; Wang ZQ; Wu ZY; Wang N; Lin MT; Murong SX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):334-7. PubMed ID: 17557251
[TBL] [Abstract][Full Text] [Related]
15. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
Ehrlich M; Jackson K; Tsumagari K; Camaño P; Lemmers RJ
Chromosoma; 2007 Apr; 116(2):107-16. PubMed ID: 17131163
[TBL] [Abstract][Full Text] [Related]
16. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
de Greef JC; Lemmers RJ; van Engelen BG; Sacconi S; Venance SL; Frants RR; Tawil R; van der Maarel SM
Hum Mutat; 2009 Oct; 30(10):1449-59. PubMed ID: 19728363
[TBL] [Abstract][Full Text] [Related]
17. FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.
Tsumagari K; Chen D; Hackman JR; Bossler AD; Ehrlich M
J Med Genet; 2010 Nov; 47(11):745-51. PubMed ID: 20710047
[TBL] [Abstract][Full Text] [Related]
18. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
Lemmers RJ; van der Vliet PJ; van der Gaag KJ; Zuniga S; Frants RR; de Knijff P; van der Maarel SM
Am J Hum Genet; 2010 Mar; 86(3):364-77. PubMed ID: 20206332
[TBL] [Abstract][Full Text] [Related]
19. A simplified approach for FSHD molecular testing.
Papanikos F; Skoulatou C; Sakellariou P; Kekou K; Christopoulos TK; Kanavakis E; Traeger-Synodinos J; Ioannou PC
Clin Chim Acta; 2014 Feb; 429():96-103. PubMed ID: 24321734
[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]
