These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Liquori CL; Ikeda Y; Weatherspoon M; Ricker K; Schoser BG; Dalton JC; Day JW; Ranum LP Am J Hum Genet; 2003 Oct; 73(4):849-62. PubMed ID: 14505273 [TBL] [Abstract][Full Text] [Related]
3. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Bachinski LL; Udd B; Meola G; Sansone V; Bassez G; Eymard B; Thornton CA; Moxley RT; Harper PS; Rogers MT; Jurkat-Rott K; Lehmann-Horn F; Wieser T; Gamez J; Navarro C; Bottani A; Kohler A; Shriver MD; Sallinen R; Wessman M; Zhang S; Wright FA; Krahe R Am J Hum Genet; 2003 Oct; 73(4):835-48. PubMed ID: 12970845 [TBL] [Abstract][Full Text] [Related]
4. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. O'Hoy KL; Tsilfidis C; Mahadevan MS; Neville CE; Barceló J; Hunter AG; Korneluk RG Science; 1993 Feb; 259(5096):809-12. PubMed ID: 8094260 [TBL] [Abstract][Full Text] [Related]
5. French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. Lavedan C; Hofmann-Radvanyi H; Boileau C; Bonaïti-Pellié C; Savoy D; Shelbourne P; Duros C; Rabes JP; Dehaupas I; Luce S J Med Genet; 1994 Jan; 31(1):33-6. PubMed ID: 8151634 [TBL] [Abstract][Full Text] [Related]
6. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Neville CE; Mahadevan MS; Barceló JM; Korneluk RG Hum Mol Genet; 1994 Jan; 3(1):45-51. PubMed ID: 7909252 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 8659513 [TBL] [Abstract][Full Text] [Related]
8. CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia. Gennarelli M; Pavoni M; Cruciani F; De Stefano G; Dallapiccola B; Novelli G Hum Genet; 1999; 105(1-2):165-7. PubMed ID: 10480373 [TBL] [Abstract][Full Text] [Related]
9. Origin of the expansion mutation in myotonic dystrophy. Imbert G; Kretz C; Johnson K; Mandel JL Nat Genet; 1993 May; 4(1):72-6. PubMed ID: 8513329 [TBL] [Abstract][Full Text] [Related]
10. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Mahadevan M; Tsilfidis C; Sabourin L; Shutler G; Amemiya C; Jansen G; Neville C; Narang M; Barceló J; O'Hoy K Science; 1992 Mar; 255(5049):1253-5. PubMed ID: 1546325 [TBL] [Abstract][Full Text] [Related]
11. Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Jansen G; de Jong PJ; Amemiya C; Aslanidis C; Shaw DJ; Harley HG; Brook JD; Fenwick R; Korneluk RG; Tsilfidis C Genomics; 1992 Jul; 13(3):509-17. PubMed ID: 1639379 [TBL] [Abstract][Full Text] [Related]
12. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Tishkoff SA; Goldman A; Calafell F; Speed WC; Deinard AS; Bonne-Tamir B; Kidd JR; Pakstis AJ; Jenkins T; Kidd KK Am J Hum Genet; 1998 Jun; 62(6):1389-402. PubMed ID: 9585589 [TBL] [Abstract][Full Text] [Related]
13. Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. Pan H; Lin HM; Ku WY; Li TC; Li SY; Lin CC; Hsiao KM Eur J Hum Genet; 2001 Aug; 9(8):638-41. PubMed ID: 11528511 [TBL] [Abstract][Full Text] [Related]
14. Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region. Shutler G; Korneluk RG; Tsilfidis C; Mahadevan M; Bailly J; Smeets H; Jansen G; Wieringa B; Lohman F; Aslanidis C Genomics; 1992 Jul; 13(3):518-25. PubMed ID: 1639380 [TBL] [Abstract][Full Text] [Related]
15. Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. Smeets HJ; Hermens R; Brunner HG; Ropers HH; Wieringa B Genomics; 1991 Feb; 9(2):257-63. PubMed ID: 1840564 [TBL] [Abstract][Full Text] [Related]
16. [Allelic polymorphism and analysis of haplotypes of the muscle protein kinase genes and haplotype analysis in residents of northwestern Russia and patients with myotonic dystrophy]. Malysheva OV; Ivashchenko TE; Vasil'eva TN; Saĭkova LA; Baranov VS Genetika; 1998 Feb; 34(2):295-9. PubMed ID: 9589858 [TBL] [Abstract][Full Text] [Related]
17. Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population. Yamagata H; Nakagawa M; Johnson K; Miki T J Hum Genet; 1998; 43(4):246-9. PubMed ID: 9852676 [TBL] [Abstract][Full Text] [Related]
18. Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies. Goldman A; Krause A; Ramsay M; Jenkins T Am J Hum Genet; 1996 Aug; 59(2):445-52. PubMed ID: 8755933 [TBL] [Abstract][Full Text] [Related]
19. The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency. Shutler GG; MacKenzie AE; Korneluk RG Am J Hum Genet; 1994 Jan; 54(1):104-13. PubMed ID: 8279459 [TBL] [Abstract][Full Text] [Related]
20. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Cobo A; Grinberg D; Balcells S; Vilageliu L; Gonzàlez-Duarte R; Baiget M Hum Genet; 1992 May; 89(3):287-91. PubMed ID: 1351033 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]