Literature DB >> 20179747

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Mario Tosi1, Stefan Stamm, Diana Baralle.   

Abstract

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Mesh：

Year:  2010        PMID： 20179747      PMCID： PMC2987332          DOI： 10.1038/ejhg.2010.18

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


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  8 in total

Review 1.  Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

Authors:  Diana Baralle; Anneke Lucassen; Emanuele Buratti
Journal:  EMBO Rep       Date:  2009-08       Impact factor: 8.807

Review 2.  Substances that can change alternative splice-site selection.

Authors:  Chiranthani Sumanasekera; David S Watt; Stefan Stamm
Journal:  Biochem Soc Trans       Date:  2008-06       Impact factor: 5.407

3.  Prediction and assessment of splicing alterations: implications for clinical testing.

Authors:  Amanda B Spurdle; Fergus J Couch; Frans B L Hogervorst; Paolo Radice; Olga M Sinilnikova
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

4.  Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Authors:  Sean V Tavtigian; Graham B Byrnes; David E Goldgar; Alun Thomas
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

5.  A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Authors:  Isabelle Tournier; Myriam Vezain; Alexandra Martins; Françoise Charbonnier; Stéphanie Baert-Desurmont; Sylviane Olschwang; Qing Wang; Marie Pierre Buisine; Johann Soret; Jamal Tazi; Thierry Frébourg; Mario Tosi
Journal:  Hum Mutat       Date:  2008-12       Impact factor: 4.878

6.  A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.

Authors:  Myriam Vezain; Pascale Saugier-Veber; Elisa Goina; Renaud Touraine; Véronique Manel; Annick Toutain; Séverine Fehrenbach; Thierry Frébourg; Franco Pagani; Mario Tosi; Alexandra Martins
Journal:  Hum Mutat       Date:  2010-01       Impact factor: 4.878

7.  Rapid generation of splicing reporters with pSpliceExpress.

Authors:  Shivendra Kishore; Amit Khanna; Stefan Stamm
Journal:  Gene       Date:  2008-10-01       Impact factor: 3.688

Review 8.  Progress in therapeutic antisense applications for neuromuscular disorders.

Authors:  Annemieke Aartsma-Rus; Gert-Jan B van Ommen
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246
  8 in total

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