Literature DB >> 20466545

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.

Stephen Abbs1, Sylvie Tuffery-Giraud, Egbert Bakker, Alessandra Ferlini, Thomas Sejersen, Clemens R Mueller.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20466545     DOI： 10.1016/j.nmd.2010.04.005

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  27 in total

1.  Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Authors:  Karen Anthony; Sebahattin Cirak; Silvia Torelli; Giorgio Tasca; Lucy Feng; Virginia Arechavala-Gomeza; Annarita Armaroli; Michela Guglieri; Chiara S Straathof; Jan J Verschuuren; Annemieke Aartsma-Rus; Paula Helderman-van den Enden; Katherine Bushby; Volker Straub; Caroline Sewry; Alessandra Ferlini; Enzo Ricci; Jennifer E Morgan; Francesco Muntoni
Journal:  Brain       Date:  2011-11-18       Impact factor: 13.501

2.  Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

Authors:  Nigel G Laing; Mark R Davis; Klair Bayley; Sue Fletcher; Steve D Wilton
Journal:  Clin Biochem Rev       Date:  2011-08

3.  Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Authors:  Aliya Ishmukhametova; Philippe Khau Van Kien; Déborah Méchin; Delphine Thorel; Marie-Claire Vincent; François Rivier; Christine Coubes; Véronique Humbertclaude; Mireille Claustres; Sylvie Tuffery-Giraud
Journal:  Eur J Hum Genet       Date:  2012-04-18       Impact factor: 4.246

4.  Evolution of molecular diagnosis of Duchenne muscular dystrophy.

Authors:  Afaf Ben Itto; Khalil Hamzi; Hanane Bellayou; Mohammed Itri; Ilham Slassi; Sellama Nadifi
Journal:  J Mol Neurosci       Date:  2013-02-05       Impact factor: 3.444

5.  New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Authors:  Rosário Santos; Ana Gonçalves; Jorge Oliveira; Emília Vieira; José Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Elsa Bronze-da-Rocha
Journal:  J Hum Genet       Date:  2014-07-10       Impact factor: 3.172

6.  Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Authors:  Arun Shastry; Sankaramoorthy Aravind; Meeta Sunil; Keerthi Ramesh; Berty Ashley; Nithyanandan T; Vedam L Ramprasad; Ravi Gupta; Somasekar Seshagiri; Upendra Nongthomba; Sameer Phalke
Journal:  Mol Genet Genomic Med       Date:  2021-05-07       Impact factor: 2.183

7.  An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.

Authors:  Apollonia T J M Helderman-van den Enden; Kamlesh Madan; Martijn H Breuning; Annemieke H van der Hout; Egbert Bakker; Christine E M de Die-Smulders; Hendrika B Ginjaar
Journal:  Eur J Hum Genet       Date:  2012-06-06       Impact factor: 4.246

8.  Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.

Authors:  Tiemo Grimm; Wolfram Kress; Gerhard Meng; Clemens R Müller
Journal:  Acta Myol       Date:  2012-12

9.  Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.

Authors:  Pauline McCormack; Simon Woods; Annemieke Aartsma-Rus; Lynn Hagger; Agnes Herczegfalvi; Emma Heslop; Joseph Irwin; Janbernd Kirschner; Patrick Moeschen; Francesco Muntoni; Marie-Christine Ouillade; Jes Rahbek; Christoph Rehmann-Sutter; Francoise Rouault; Thomas Sejersen; Elizabeth Vroom; Volker Straub; Kate Bushby; Alessandra Ferlini
Journal:  PLoS Curr       Date:  2013-01-10

10.  A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.

Authors:  Renate Marquis-Nicholson; Daniel Lai; Chuan-Ching Lan; Jennifer M Love; Donald R Love
Journal:  ISRN Neurol       Date:  2013-02-07
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