344 related articles for article (PubMed ID: 15935668)
1. 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]
2. 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]
3. Somatic mosaicism in FSHD often goes undetected.
Lemmers RJ; van der Wielen MJ; Bakker E; Padberg GW; Frants RR; van der Maarel SM
Ann Neurol; 2004 Jun; 55(6):845-50. PubMed ID: 15174019
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
van Overveld PG; Lemmers RJ; Sandkuijl LA; Enthoven L; Winokur ST; Bakels F; Padberg GW; van Ommen GJ; Frants RR; van der Maarel SM
Nat Genet; 2003 Dec; 35(4):315-7. PubMed ID: 14634647
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
van Overveld PG; Enthoven L; Ricci E; Rossi M; Felicetti L; Jeanpierre M; Winokur ST; Frants RR; Padberg GW; van der Maarel SM
Ann Neurol; 2005 Oct; 58(4):569-76. PubMed ID: 16178028
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.
Butz M; Koch MC; Müller-Felber W; Lemmers RJ; van der Maarel SM; Schreiber H
J Neurol; 2003 Aug; 250(8):932-7. PubMed ID: 12928911
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Deak KL; Lemmers RJ; Stajich JM; Klooster R; Tawil R; Frants RR; Speer MC; van der Maarel SM; Gilbert JR
Neurology; 2007 Feb; 68(8):578-82. PubMed ID: 17229919
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
Tonini MM; Lemmers RJ; Pavanello RC; Cerqueira AM; Frants RR; van der Maarel SM; Zatz M
Hum Genet; 2006 Mar; 119(1-2):23-8. PubMed ID: 16341710
[TBL] [Abstract][Full Text] [Related]
13. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Goto K; Nishino I; Hayashi YK
Neuromuscul Disord; 2006 Apr; 16(4):256-61. PubMed ID: 16545566
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC; Wohlgemuth M; Chan OA; Hansson KB; Smeets D; Frants RR; Weemaes CM; Padberg GW; van der Maarel SM
Neurology; 2007 Sep; 69(10):1018-26. PubMed ID: 17785671
[TBL] [Abstract][Full Text] [Related]
16. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.
Tsien F; Sun B; Hopkins NE; Vedanarayanan V; Figlewicz D; Winokur S; Ehrlich M
Mol Genet Metab; 2001 Nov; 74(3):322-31. PubMed ID: 11708861
[TBL] [Abstract][Full Text] [Related]
17. Molecular diagnosis of facioscapulohumeral muscular dystrophy.
Upadhyaya M; Cooper DN
Expert Rev Mol Diagn; 2002 Mar; 2(2):160-71. PubMed ID: 11962336
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy].
Pikó H; Molnár MJ; Herczegfalvi A; Mayer P; Karcagi V
Orv Hetil; 2011 Sep; 152(39):1576-85. PubMed ID: 21920844
[TBL] [Abstract][Full Text] [Related]
20. Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.
Nguyen K; Walrafen P; Bernard R; Attarian S; Chaix C; Vovan C; Renard E; Dufrane N; Pouget J; Vannier A; Bensimon A; Lévy N
Ann Neurol; 2011 Oct; 70(4):627-33. PubMed ID: 22028222
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
