160 related articles for article (PubMed ID: 8353489)
1. Intergenerational stability of the myotonic dystrophy protomutation.
Barceló JM; Mahadevan MS; Tsilfidis C; MacKenzie AE; Korneluk RG
Hum Mol Genet; 1993 Jun; 2(6):705-9. PubMed ID: 8353489
[TBL] [Abstract][Full Text] [Related]
2. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.
Hunter A; Tsilfidis C; Mettler G; Jacob P; Mahadevan M; Surh L; Korneluk R
J Med Genet; 1992 Nov; 29(11):774-9. PubMed ID: 1453425
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.
Tsilfidis C; MacKenzie AE; Mettler G; Barceló J; Korneluk RG
Nat Genet; 1992 Jun; 1(3):192-5. PubMed ID: 1303233
[TBL] [Abstract][Full Text] [Related]
6. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
Brunner HG; Brüggenwirth HT; Nillesen W; Jansen G; Hamel BC; Hoppe RL; de Die CE; Höweler CJ; van Oost BA; Wieringa B
Am J Hum Genet; 1993 Nov; 53(5):1016-23. PubMed ID: 8213829
[TBL] [Abstract][Full Text] [Related]
7. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.
Redman JB; Fenwick RG; Fu YH; Pizzuti A; Caskey CT
JAMA; 1993 Apr; 269(15):1960-5. PubMed ID: 8464127
[TBL] [Abstract][Full Text] [Related]
8. Presymptomatic diagnosis of myotonic dystrophy.
Brunner HG; Nillesen W; van Oost BA; Jansen G; Wieringa B; Ropers HH; Smeets HJ
J Med Genet; 1992 Nov; 29(11):780-4. PubMed ID: 1453426
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.
Davies J; Yamagata H; Shelbourne P; Buxton J; Ogihara T; Nokelainen P; Nakagawa M; Williamson R; Johnson K; Miki T
J Med Genet; 1992 Nov; 29(11):766-9. PubMed ID: 1453423
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 8128954
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.
Abbruzzese C; Costanzi Porrini S; Mariani B; Gould FK; McAbney JP; Monckton DG; Ashizawa T; Giacanelli M
Ann Neurol; 2002 Oct; 52(4):435-41. PubMed ID: 12325072
[TBL] [Abstract][Full Text] [Related]
17. A molecular protocol for diagnosing myotonic dystrophy.
Guida M; Marger RS; Papp AC; Snyder PJ; Sedra MS; Kissel JT; Mendell JR; Prior TW
Clin Chem; 1995 Jan; 41(1):69-72. PubMed ID: 7813083
[TBL] [Abstract][Full Text] [Related]
18. Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
Reardon W; Harley HG; Brook JD; Rundle SA; Crow S; Harper PS; Shaw DJ
J Med Genet; 1992 Nov; 29(11):770-3. PubMed ID: 1453424
[TBL] [Abstract][Full Text] [Related]
19. Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.
Zühlke C; Atici J; Martorell L; Gembruch U; Kohl M; Göpel W; Schwinger E
Prenat Diagn; 2000 Jan; 20(1):66-9. PubMed ID: 10701856
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]