116 related articles for article (PubMed ID: 20228473)
1. A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1).
Hamzi K; Bellayou H; Slassi I; Nadifi S
Neurol India; 2010; 58(1):99-102. PubMed ID: 20228473
[TBL] [Abstract][Full Text] [Related]
2. Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis.
Kakourou G; Dhanjal S; Mamas T; Serhal P; Delhanty JD; SenGupta SB
Fertil Steril; 2010 Oct; 94(5):1674-9. PubMed ID: 20171614
[TBL] [Abstract][Full Text] [Related]
3. 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.
Savić D; Rakocvic-Stojanovic V; Keckarevic D; Culjkovic B; Stojkovic O; Mladenovic J; Todorovic S; Apostolski S; Romac S
Hum Mutat; 2002 Feb; 19(2):131-9. PubMed ID: 11793472
[TBL] [Abstract][Full Text] [Related]
4. [A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].
Zhao XP; Xie HJ; Zheng HM; Yu ZL; Cui Y; Ding SJ; Ren DM; Tang GM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):459-62. PubMed ID: 15476170
[TBL] [Abstract][Full Text] [Related]
5. Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
Addis M; Serrenti M; Meloni C; Cau M; Melis MA
Genet Test Mol Biomarkers; 2012 Dec; 16(12):1428-31. PubMed ID: 23030650
[TBL] [Abstract][Full Text] [Related]
6. Detection of the CTG repeat expansion in congenital myotonic dystrophy.
Ohya K; Tachi N; Sato T; Kon S; Kikuchi K; Chiba S
Jpn J Hum Genet; 1997 Mar; 42(1):169-80. PubMed ID: 9183996
[TBL] [Abstract][Full Text] [Related]
7. Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing.
Radvansky J; Ficek A; Minarik G; Palffy R; Kadasi L
Diagn Mol Pathol; 2011 Mar; 20(1):48-51. PubMed ID: 21326039
[TBL] [Abstract][Full Text] [Related]
8. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
Ashizawa T; Monckton DG; Vaishnav S; Patel BJ; Voskova A; Caskey CT
Genomics; 1996 Aug; 36(1):47-53. PubMed ID: 8812415
[TBL] [Abstract][Full Text] [Related]
9. (CTG)n expansion at DMPK locus seen only in muscle tissue: a novel case.
Hasan Q; Mohan V; Ahuja YR
Indian J Exp Biol; 2004 Sep; 42(9):937-40. PubMed ID: 15462191
[TBL] [Abstract][Full Text] [Related]
10. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
Orpana AK; Ho TH; Alagrund K; Ridanpää M; Aittomäki K; Stenman J
J Mol Diagn; 2013 Jan; 15(1):110-5. PubMed ID: 23159592
[TBL] [Abstract][Full Text] [Related]
11. Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.
Radvansky J; Ficek A; Kadasi L
Mol Cell Probes; 2011 Aug; 25(4):182-5. PubMed ID: 21550396
[TBL] [Abstract][Full Text] [Related]
12. [Clinical, familial and hereditary analysis of myotonic dystrophy].
Wu Z; Yang J; Cao J; Hu Z; Zhan Y; Li J; Li Y; Wang Y; Zhang C
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2011 Jun; 36(6):520-4. PubMed ID: 21743143
[TBL] [Abstract][Full Text] [Related]
13. [Detection for trinucleotide repeats in myotonic dystrophy type 1].
Li Y; Da YW
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):16-8. PubMed ID: 22311484
[TBL] [Abstract][Full Text] [Related]
14. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.
Carango P; Noble JE; Marks HG; Funanage VL
Genomics; 1993 Nov; 18(2):340-8. PubMed ID: 8288237
[TBL] [Abstract][Full Text] [Related]
15. Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.
Savić D; Keckarević D; Branković-Srećković V; Apostolski S; Todorović S; Romac S
Int J Neurosci; 2006 Dec; 116(12):1509-18. PubMed ID: 17145685
[TBL] [Abstract][Full Text] [Related]
16. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.
Krahe R; Ashizawa T; Abbruzzese C; Roeder E; Carango P; Giacanelli M; Funanage VL; Siciliano MJ
Genomics; 1995 Jul; 28(1):1-14. PubMed ID: 7590731
[TBL] [Abstract][Full Text] [Related]
17. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.
Frisch R; Singleton KR; Moses PA; Gonzalez IL; Carango P; Marks HG; Funanage VL
Mol Genet Metab; 2001; 74(1-2):281-91. PubMed ID: 11592825
[TBL] [Abstract][Full Text] [Related]
18. Characteristics of myotonic dystrophy in Istria: molecular genetics approach--mutation analysis.
Medica I; Logar N; Batagelj M; Peterlin B
Coll Antropol; 1998 Dec; 22(2):477-84. PubMed ID: 9887603
[TBL] [Abstract][Full Text] [Related]
19. Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1).
Erginel-Unaltuna N; Akbas F
J Clin Lab Anal; 2004; 18(1):50-4. PubMed ID: 14730559
[TBL] [Abstract][Full Text] [Related]
20. [DNA diagnosis in myotonic dystrophy].
Tachi N
Hokkaido Igaku Zasshi; 1996 Jan; 71(1):3-8. PubMed ID: 8727368
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]