Literature DB >> 8421477

Brief report: reverse mutation in myotonic dystrophy.

H G Brunner1, G Jansen, W Nillesen, M R Nelen, C E de Die, C J Höweler, B A van Oost, B Wieringa, H H Ropers, H J Smeets.   

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Year:  1993        PMID： 8421477     DOI： 10.1056/NEJM199302183280705

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  19 in total

Review 1.  Revertant mosaicism in skin: natural gene therapy.

Authors:  Joey E Lai-Cheong; John A McGrath; Jouni Uitto
Journal:  Trends Mol Med       Date:  2010-12-29       Impact factor: 11.951

2.  Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

Authors:  M L Väisänen; R Haataja; J Leisti
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

3.  Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks.

Authors:  Meghan M Slean; Gagan B Panigrahi; Arturo López Castel; August B Pearson; Alan E Tomkinson; Christopher E Pearson
Journal:  DNA Repair (Amst)       Date:  2016-04-16

4.  Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.

Authors:  Jovan Pešović; S Perić; M Brkušanin; G Brajušković; V Rakočević-Stojanović; Dušanka Savić-Pavićević
Journal:  Neurogenetics       Date:  2017-09-23       Impact factor: 2.660

Review 5.  Heritable trinucleotide repeats and neurological disorders.

Authors:  B S Shastry
Journal:  Experientia       Date:  1994-11-30

6.  Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Authors:  H G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; B C Hamel; R L Hoppe; C E de Die; C J Höweler; B A van Oost; B Wieringa
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

7.  Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes.

Authors:  P T Wilmshurst; D Katritsis
Journal:  Heart       Date:  1996-01       Impact factor: 5.994

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

Authors:  G Jansen; P Willems; M Coerwinkel; W Nillesen; H Smeets; L Vits; C Höweler; H Brunner; B Wieringa
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

9.  The fragile X premutation in carriers and its effect on mutation size in offspring.

Authors:  G S Fisch; K Snow; S N Thibodeau; M Chalifaux; J J Holden; D L Nelson; P N Howard-Peebles; A Maddalena
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

10.  Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

Authors:  C E de Die-Smulders; C J Höweler; J F Mirandolle; H G Brunner; V Hovers; H Brüggenwirth; H J Smeets; J P Geraedts
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318
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