Literature DB >> 29467387

Clinical Utility Gene Card for: Becker muscular dystrophy.

David Coote1, Mark R Davis2, Macarena Cabrera3, Merrilee Needham4,5,6,7, Nigel G Laing1,2, Kristen J Nowak8,9,10.   

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Year:  2018        PMID： 29467387      PMCID： PMC6018697          DOI： 10.1038/s41431-017-0064-4

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  46 in total

1.  Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.

Authors:  M A Melis; M Cau; F Muntoni; A Mateddu; R Galanello; L Boccone; F Deidda; D Loi; A Cao
Journal:  Eur J Paediatr Neurol       Date:  1998       Impact factor: 3.140

2.  Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.

Authors:  G P Ramelli; F Joncourt; J Luetschg; J Weis; M Tolnay; J M Burgunder
Journal:  Swiss Med Wkly       Date:  2006-03-18       Impact factor: 2.193

3.  Prevalence and incidence of Becker muscular dystrophy.

Authors:  K M Bushby; M Thambyayah; D Gardner-Medwin
Journal:  Lancet       Date:  1991-04-27       Impact factor: 79.321

4.  Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Michael T Howard; Jacinda B Sampson; Kathryn J Swoboda; Mark B Bromberg; Jerry R Mendell; Laura E Taylor; Christine B Anderson; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Brenda Wong; Richard S Finkel; Carsten G Bonnemann; John W Day; Craig McDonald; Robert B Weiss
Journal:  Hum Mutat       Date:  2011-03       Impact factor: 4.878

5.  Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Authors:  Matteo Bovolenta; Chiara Scotton; Maria Sofia Falzarano; Francesca Gualandi; Alessandra Ferlini
Journal:  Hum Mutat       Date:  2012-01-25       Impact factor: 4.878

6.  Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.

Authors:  S D Wilton; R D Johnsen; J R Pedretti; N G Laing
Journal:  Am J Med Genet       Date:  1993-06-15

7.  Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.

Authors:  Akanchha Kesari; Laura N Pirra; Lakshmi Bremadesam; Orinthal McIntyre; Erynn Gordon; Alberto L Dubrovsky; V Viswanathan; Eric P Hoffman
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

Review 8.  Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.

Authors:  Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin
Journal:  Lancet Neurol       Date:  2009-11-27       Impact factor: 44.182

9.  An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Authors:  A Disset; C F Bourgeois; N Benmalek; M Claustres; J Stevenin; Sylvie Tuffery-Giraud
Journal:  Hum Mol Genet       Date:  2006-02-06       Impact factor: 6.150

10.  Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

Authors:  Daniela del Gaudio; Yaping Yang; Barbara A Boggs; Eric S Schmitt; Jennifer A Lee; Trilochan Sahoo; Hoang T Pham; Joanna Wiszniewska; A Craig Chinault; Arthur L Beaudet; Christine M Eng
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878
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  1 in total

Review 1.  Diagnosis of Cardiac Abnormalities in Muscular Dystrophies.

Authors:  Elisabeta Bădilă; Iulia Ioana Lungu; Alexandru Mihai Grumezescu; Alexandru Scafa Udriște
Journal:  Medicina (Kaunas)       Date:  2021-05-12       Impact factor: 2.430
  1 in total

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