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4. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. Yamamoto K; Ikeda S; Hanyu N; Takeda S; Yanagisawa N J Med Genet; 1998 Jan; 35(1):23-30. PubMed ID: 9475090 [TBL] [Abstract][Full Text] [Related]
5. [DNA analysis of a pedigree with myotonic dystrophy in Songjiang county, Shanghai]. Xie H; Zheng H; Zheng S; Deng B; Xu J; Cui Y; Wang Y; Xu Z; Ren D Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Oct; 17(5):319-22. PubMed ID: 11024209 [TBL] [Abstract][Full Text] [Related]
6. Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms. Ashizawa T; Hejtmancik JF; Liu J; Perryman MB; Epstein HF; Koch DD Am J Med Genet; 1992 Jan; 42(1):55-60. PubMed ID: 1364051 [TBL] [Abstract][Full Text] [Related]
8. [Direct genotypic analysis of myotonic dystrophy: detection of an unstable DNA fragment in carriers]. Cobo AM; Martorell L; López de Munain A; Basauri B; Martínez JM; Johnson K; Baiget M Med Clin (Barc); 1993 Mar; 100(10):361-4. PubMed ID: 8097270 [TBL] [Abstract][Full Text] [Related]
13. Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family. de Die-Smulders CE; Höweler CJ; Mirandolle JF; Brunner HG; Hovers V; Brüggenwirth H; Smeets HJ; Geraedts JP J Med Genet; 1994 Aug; 31(8):595-601. PubMed ID: 7815415 [TBL] [Abstract][Full Text] [Related]
14. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Ashizawa T; Anvret M; Baiget M; Barceló JM; Brunner H; Cobo AM; Dallapiccola B; Fenwick RG; Grandell U; Harley H Am J Hum Genet; 1994 Mar; 54(3):414-23. PubMed ID: 8116611 [TBL] [Abstract][Full Text] [Related]
15. Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. López de Munain A; Blanco A; Emparanza JI; Martí Massó JF; Cobo A; Basauri B; Martorell L; Baiget M; Martínez Lage JM Neuroepidemiology; 1994; 13(1-2):75-8. PubMed ID: 8190210 [TBL] [Abstract][Full Text] [Related]
16. [Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)]. Reed UC; Passos-Bueno MR; Nagahashi-Marie SK; Cerqueira A; Mendonça LI; Levy JA; Diament A; Zatz M Arq Neuropsiquiatr; 1994 Dec; 52(4):545-8. PubMed ID: 7611950 [TBL] [Abstract][Full Text] [Related]
17. Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy. López de Munain A; Cobo AM; Sáenz A; Blanco A; Poza JJ; Martorell L; Martí-Massó JF; Baiget M Genet Epidemiol; 1996; 13(5):483-7. PubMed ID: 8905394 [TBL] [Abstract][Full Text] [Related]
18. Characteristics of dynamic mutation in Japanese myotonic dystrophy. Yamagata H; Miki T; Yamanaka N; Takemoto Y; Kanda F; Takahashi K; Inui T; Kinoshita M; Nakagawa M; Higuchi I Jpn J Hum Genet; 1994 Sep; 39(3):327-35. PubMed ID: 7841443 [TBL] [Abstract][Full Text] [Related]
19. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Shelbourne P; Winqvist R; Kunert E; Davies J; Leisti J; Thiele H; Bachmann H; Buxton J; Williamson B; Johnson K Hum Mol Genet; 1992 Oct; 1(7):467-73. PubMed ID: 1307246 [TBL] [Abstract][Full Text] [Related]
20. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation. Hunter AG; Jacob P; O'Hoy K; MacDonald I; Mettler G; Tsilfidis C; Korneluk RG Am J Med Genet; 1993 Feb; 45(3):401-7. PubMed ID: 8434633 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]