434 related articles for article (PubMed ID: 17229919)
1. 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]
2. 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]
3. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.
Osborne RJ; Welle S; Venance SL; Thornton CA; Tawil R
Neurology; 2007 Feb; 68(8):569-77. PubMed ID: 17151338
[TBL] [Abstract][Full Text] [Related]
4. Severe phenotype in infantile facioscapulohumeral muscular dystrophy.
Klinge L; Eagle M; Haggerty ID; Roberts CE; Straub V; Bushby KM
Neuromuscul Disord; 2006 Oct; 16(9-10):553-8. PubMed ID: 16934468
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Rijkers T; Deidda G; van Koningsbruggen S; van Geel M; Lemmers RJ; van Deutekom JC; Figlewicz D; Hewitt JE; Padberg GW; Frants RR; van der Maarel SM
J Med Genet; 2004 Nov; 41(11):826-36. PubMed ID: 15520407
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.
Krasnianski M; Neudecker S; Eger K; Jakubiczka S; Zierz S
J Neurol; 2003 Sep; 250(9):1084-7. PubMed ID: 14504970
[TBL] [Abstract][Full Text] [Related]
9. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
Krasnianski M; Eger K; Neudecker S; Jakubiczka S; Zierz S
Arch Neurol; 2003 Oct; 60(10):1421-5. PubMed ID: 14568813
[TBL] [Abstract][Full Text] [Related]
10. [Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].
Krasnianski M; Neudecker S; Eger K; Schulte-Mattler W; Zierz S
Nervenarzt; 2003 Feb; 74(2):151-8. PubMed ID: 12596016
[TBL] [Abstract][Full Text] [Related]
11. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
Jiang G; Yang F; van Overveld PG; Vedanarayanan V; van der Maarel S; Ehrlich M
Hum Mol Genet; 2003 Nov; 12(22):2909-21. PubMed ID: 14506132
[TBL] [Abstract][Full Text] [Related]
12. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
van der Maarel SM; Deidda G; Lemmers RJ; Bakker E; van der Wielen MJ; Sandkuijl L; Hewitt JE; Padberg GW; Frants RR
J Med Genet; 1999 Nov; 36(11):823-8. PubMed ID: 10544225
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. [Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy].
Su Q; Zhang C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Oct; 18(5):398-401. PubMed ID: 11592052
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Facioscapuloperoneal muscular dystrophy: correlation between a phenotype and genotype].
Rudenko DI; Kazakov BM; Skoromets AA; Magomedova NK
Patol Fiziol Eksp Ter; 2009; (2):22-7. PubMed ID: 19537084
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Facioscapulohumeral dystrophy.
Kissel JT
Semin Neurol; 1999; 19(1):35-43. PubMed ID: 10711987
[TBL] [Abstract][Full Text] [Related]
20. [Gene diagnosis of facioscapulohumeral muscular dystrophy].
Zhang JL; Shen DG; Zhou PK; Liu JW; Jia N; Liu H; Wang HB; Yang SX; Frants RR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun; 20(3):232-4. PubMed ID: 12778451
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
