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Results: 1 to 20 of 121

Similar articles for PubMed (Select 23030650)

1.

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. doi: 10.1089/gtmb.2012.0218. Epub 2012 Oct 2.

PMID:
23030650
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. doi: 10.1016/j.fertnstert.2009.10.050. Epub 2010 Feb 19.

PMID:
20171614
3.

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. doi: 10.1016/j.jmoldx.2012.07.004. Epub 2012 Nov 14.

4.

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. doi: 10.1097/PDM.0b013e3181efe290.

PMID:
21326039
5.

A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1).

Hamzi K, Bellayou H, Slassi I, Nadifi S.

Neurol India. 2010 Jan-Feb;58(1):99-102. doi: 10.4103/0028-3886.60411.

6.

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.

PMID:
14730559
7.

Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population.

Magaña JJ, Cortés-Reynosa P, Escobar-Cedillo R, Gómez R, Leyva-García N, Cisneros B.

Mol Biol Rep. 2011 Feb;38(2):1341-6. doi: 10.1007/s11033-010-0235-7. Epub 2010 Jul 16.

PMID:
20635151
8.

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS.

Korean J Lab Med. 2008 Dec;28(6):483-92. doi: 10.3343/kjlm.2008.28.6.483.

9.

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.

Cheng S, Barceló JM, Korneluk RG.

Hum Mutat. 1996;7(4):304-10.

PMID:
8723679
10.

[Non-radioactive PCR southern method for analysis of CTG repeat in myotonic dystrophy].

Kozuka N, Tachi N, Ohya K, Uchida E, Kikuchi S, Sengoku Y.

No To Hattatsu. 2003 Sep;35(5):380-7. Japanese.

PMID:
13677946
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. doi: 10.1016/j.mcp.2011.04.006. Epub 2011 May 4.

PMID:
21550396
12.

New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction.

Skrzypczak-Zielinska M, Sulek-Piatkowska A, Mierzejewski M, Froster UG.

Genet Test Mol Biomarkers. 2009 Oct;13(5):651-5. doi: 10.1089/gtmb.2009.0050.

PMID:
19715468
13.

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.

J Mol Diagn. 2013 Jul;15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.

14.

[Methods of determination of the number of CTG/CAG repeats in trinucleotide repeats in the human genome].

Falk M, Froster U, Vojtísková M.

Cas Lek Cesk. 2003;142(10):609-14. Czech.

PMID:
14635426
15.

A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.

Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B.

Diagn Mol Pathol. 1998 Jun;7(3):135-7.

PMID:
9836067
16.

[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. doi: 10.3969/j.issn.1672-7347.2011.06.008. Chinese.

17.

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 15;36(1):47-53.

PMID:
8812415
18.

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.

PMID:
11793472
20.

Investigation of molecular diagnosis in Chinese patients with myotonic dystrophy type 1.

Li M, Wang Z, Cui F, Yang F, Chen Z, Ling L, Pu C, Huang X.

Chin Med J (Engl). 2014;127(6):1084-8.

PMID:
24622439
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