Literature DB >> 8081369

Detection of a premutation in Japanese myotonic dystrophy.

H Yamagata1, T Miki, S Sakoda, N Yamanaka, J Davies, P Shelbourne, R Kubota, S Takenaga, M Nakagawa, T Ogihara.   

Abstract

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Year:  1994        PMID： 8081369     DOI： 10.1093/hmg/3.5.819

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

1.  Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

Authors:  Yasunari Matsuzaka; Soichiro Kishi; Yoshitsugu Aoki; Hirofumi Komaki; Yasushi Oya; Shin-Ichi Takeda; Kazuo Hashido
Journal:  Environ Health Prev Med       Date:  2014-08-24       Impact factor: 3.674

2.  Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n. (CAG)n repeats from the myotonic dystrophy locus.

Authors:  C E Pearson; Y H Wang; J D Griffith; R R Sinden
Journal:  Nucleic Acids Res       Date:  1998-02-01       Impact factor: 16.971

3.  Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Authors:  M Cossée; M Schmitt; V Campuzano; L Reutenauer; C Moutou; J L Mandel; M Koenig
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

4.  Frequency of myotonic dystrophy gene carriers in cataract patients.

Authors:  A M Cobo; J J Poza; A Blanco; A López de Munain; A Saénz; M Azpitarte; J Marchessi; J F Martí Massó
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

5.  Instability of normal (CTG)n alleles in the DM kinase gene.

Authors:  D J Dow; D C Rubinsztein; J R Yates; D E Barton; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

Review 6.  Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.

Authors:  Lise Barbé; Steve Finkbeiner
Journal:  Front Aging Neurosci       Date:  2022-05-03       Impact factor: 5.702

7.  De novo myotonic dystrophy mutation in a Nigerian kindred.

Authors:  R Krahe; M Eckhart; A O Ogunniyi; B O Osuntokun; M J Siciliano; T Ashizawa
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

8.  Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Authors:  Isis B T Joosten; Debby M E I Hellebrekers; Bianca T A de Greef; Hubert J M Smeets; Christine E M de Die-Smulders; Catharina G Faber; Monique M Gerrits
Journal:  Eur J Hum Genet       Date:  2020-03-12       Impact factor: 4.246

9.  Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling.

Authors:  Ashok Kumar; Sarita Agarwal; Sunil Pradhan
Journal:  Case Rep Med       Date:  2014-02-23

Review 10.  Molecular genetics and genetic testing in myotonic dystrophy type 1.

Authors:  Dušanka Savić Pavićević; Jelena Miladinović; Miloš Brkušanin; Saša Šviković; Svetlana Djurica; Goran Brajušković; Stanka Romac
Journal:  Biomed Res Int       Date:  2013-03-18       Impact factor: 3.411
  10 in total

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