Literature DB >> 7711725

A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability.

E P Leeflang1, N Arnheim.   

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Year:  1995        PMID： 7711725     DOI： 10.1093/hmg/4.1.135

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


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  11 in total

1.  Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

Authors:  Michelle M Axford; Arturo López-Castel; Masayuki Nakamori; Charles A Thornton; Christopher E Pearson
Journal:  J Med Genet       Date:  2011-05-27       Impact factor: 6.318

Review 2.  FMR1 triplet arrays: paying the price for perfection.

Authors:  M C Hirst
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

3.  Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus.

Authors:  E P Leeflang; M S McPeek; N Arnheim
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

4.  Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Authors:  Massimo Santoro; Marcella Masciullo; Roberta Pietrobono; Giulia Conte; Anna Modoni; Maria Laura E Bianchi; Valentina Rizzo; Maria Grazia Pomponi; Giorgio Tasca; Giovanni Neri; Gabriella Silvestri
Journal:  J Neurol       Date:  2012-12-23       Impact factor: 4.849

5.  Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.

Authors:  Luana Fontana; Massimo Santoro; Maria Rosaria D'Apice; Francesca Peluso; Giulia Gori; Amelia Morrone; Giuseppe Novelli; Laura Dosa; Annalisa Botta
Journal:  Acta Myol       Date:  2020-03-01

Review 6.  Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.

Authors:  Stojan Peric; Jovan Pesovic; Dusanka Savic-Pavicevic; Vidosava Rakocevic Stojanovic; Giovanni Meola
Journal:  Int J Mol Sci       Date:  2021-12-29       Impact factor: 5.923

Review 7.  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

8.  Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.

Authors:  Guruprasad Ananda; Suzanne E Hile; Amanda Breski; Yanli Wang; Yogeshwar Kelkar; Kateryna D Makova; Kristin A Eckert
Journal:  PLoS Genet       Date:  2014-07-17       Impact factor: 5.917

9.  Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences.

Authors:  Remco T P van Cruchten; Bé Wieringa; Derick G Wansink
Journal:  RNA       Date:  2019-01-30       Impact factor: 4.942

10.  Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Authors:  Antoine Mangin; Laure de Pontual; Yu-Chih Tsai; Laetitia Monteil; Mathilde Nizon; Pierre Boisseau; Sandra Mercier; Janet Ziegle; John Harting; Cheryl Heiner; Geneviève Gourdon; Stéphanie Tomé
Journal:  Int J Mol Sci       Date:  2021-03-05       Impact factor: 5.923
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