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Results: 1 to 20 of 88

1.

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.

Higham CF, Morales F, Cobbold CA, Haydon DT, Monckton DG.

Hum Mol Genet. 2012 Jun 1;21(11):2450-63. doi: 10.1093/hmg/dds059. Epub 2012 Feb 24.

PMID:
22367968
[PubMed - indexed for MEDLINE]
Free Article
2.

Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease.

Higham CF, Monckton DG.

J R Soc Interface. 2013 Sep 18;10(88):20130605. doi: 10.1098/rsif.2013.0605. Print 2013 Nov 6.

PMID:
24047873
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Höweler C, Brunner H, Wieringa B.

Am J Hum Genet. 1994 Apr;54(4):575-85.

PMID:
8128954
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG.

Hum Mol Genet. 2000 Feb 12;9(3):439-45.

PMID:
10655554
[PubMed - indexed for MEDLINE]
Free Article
6.

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, Lopez de Munain A, Baiget M.

Hum Mol Genet. 1998 Feb;7(2):307-12.

PMID:
9425239
[PubMed - indexed for MEDLINE]
Free Article
7.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.

Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15.

PMID:
20080938
[PubMed - indexed for MEDLINE]
Free Article
8.

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

Thornton CA, Johnson K, Moxley RT 3rd.

Ann Neurol. 1994 Jan;35(1):104-7.

PMID:
8285579
[PubMed - indexed for MEDLINE]
9.

Single-cell analysis of unstable genes.

Daniels R, Holding C, Kontogianni E, Monk M.

J Assist Reprod Genet. 1996 Feb;13(2):163-9. Review.

PMID:
8688590
[PubMed - indexed for MEDLINE]
10.

Effects of sequence on repeat expansion during DNA replication.

Heidenfelder BL, Topal MD.

Nucleic Acids Res. 2003 Dec 15;31(24):7159-64.

PMID:
14654691
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B.

Hum Mol Genet. 2002 Jan 15;11(2):191-8.

PMID:
11809728
[PubMed - indexed for MEDLINE]
Free Article
12.

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy.

Melacini P, Villanova C, Menegazzo E, Novelli G, Danieli G, Rizzoli G, Fasoli G, Angelini C, Buja G, Miorelli M, et al.

J Am Coll Cardiol. 1995 Jan;25(1):239-45.

PMID:
7798509
[PubMed - indexed for MEDLINE]
13.
14.

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down.

Gomes-Pereira M, Monckton DG.

Mutat Res. 2006 Jun 25;598(1-2):15-34. Epub 2006 Feb 28. Review.

PMID:
16500684
[PubMed - indexed for MEDLINE]
15.

Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci.

Pearson CE, Sinden RR.

Biochemistry. 1996 Apr 16;35(15):5041-53.

PMID:
8664297
[PubMed - indexed for MEDLINE]
16.

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

Martorell L, Gámez J, Cayuela ML, Gould FK, McAbney JP, Ashizawa T, Monckton DG, Baiget M.

Neurology. 2004 Jan 27;62(2):269-74.

PMID:
14745066
[PubMed - indexed for MEDLINE]
17.

DNA structures, repeat expansions and human hereditary disorders.

Mirkin SM.

Curr Opin Struct Biol. 2006 Jun;16(3):351-8. Epub 2006 May 19. Review.

PMID:
16713248
[PubMed - indexed for MEDLINE]
18.

Segregation distortion of the CTG repeats at the myotonic dystrophy locus.

Chakraborty R, Stivers DN, Deka R, Yu LM, Shriver MD, Ferrell RE.

Am J Hum Genet. 1996 Jul;59(1):109-18.

PMID:
8659513
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.

Rubinsztein DC, Leggo J, Amos W, Barton DE, Ferguson-Smith MA.

Hum Mol Genet. 1994 Nov;3(11):2031-5.

PMID:
7874122
[PubMed - indexed for MEDLINE]
20.

Hypermutable myotonic dystrophy CTG repeats in transgenic mice.

Monckton DG, Coolbaugh MI, Ashizawa KT, Siciliano MJ, Caskey CT.

Nat Genet. 1997 Feb;15(2):193-6.

PMID:
9020848
[PubMed - indexed for MEDLINE]
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