Literature DB >> 12938082

Standardizing mutation nomenclature: why bother?

Johan T den Dunnen, Mark H Paalman.   

Abstract

Mesh：

Year:  2003        PMID： 12938082     DOI： 10.1002/humu.10262

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  42 in total

1.  Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Authors:  Stefania Zampieri; Emanuele Buratti; Silvia Dominissini; Anna Lisa Montalvo; Maria Gabriela Pittis; Bruno Bembi; Andrea Dardis
Journal:  Eur J Hum Genet       Date:  2010-12-22       Impact factor: 4.246

2.  Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Authors:  Jana Soukupova; Petr Pohlreich; Eva Seemanova
Journal:  Neuromolecular Med       Date:  2011-08-11       Impact factor: 3.843

3.  Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression.

Authors:  Hidetaka Yamada; Kazuya Shinmura; Toshihiro Tsuneyoshi; Haruhiko Sugimura
Journal:  J Genet       Date:  2005-08       Impact factor: 1.166

Review 4.  Molecular genetics of McArdle's disease.

Authors:  G Nogales-Gadea; J Arenas; A L Andreu
Journal:  Curr Neurol Neurosci Rep       Date:  2007-01       Impact factor: 5.081

5.  Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

Authors:  Shuji Ogino; Margaret L Gulley; Johan T den Dunnen; Robert B Wilson
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

6.  Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Authors:  Nikolaos Vogiatzakis; Kyriaki Kekou; Christalena Sophocleous; Sophia Kitsiou; Ariadni Mavrou; Chrisa Bakoula; Emmanouel Kanavakis
Journal:  Mol Biotechnol       Date:  2007-08-03       Impact factor: 2.695

7.  An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Authors:  I Touitou; C Rittore; L Philibert; J Yagüe; Y Shinar; I Aksentijevich
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

8.  Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

Authors:  Orsolya Király; Arnaud Boulling; Heiko Witt; Cédric Le Maréchal; Jian-Min Chen; Jonas Rosendahl; Cinzia Battaggia; Thomas Wartmann; Miklós Sahin-Tóth; Claude Férec
Journal:  Hum Mutat       Date:  2007-05       Impact factor: 4.878

Review 9.  Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Authors:  Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James Troendle; Raymond Dalgleish; Peter H Byers
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

10.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Authors:  Raymond Dalgleish; Paul Flicek; Fiona Cunningham; Alex Astashyn; Raymond E Tully; Glenn Proctor; Yuan Chen; William M McLaren; Pontus Larsson; Brendan W Vaughan; Christophe Béroud; Glen Dobson; Heikki Lehväslaiho; Peter Em Taschner; Johan T den Dunnen; Andrew Devereau; Ewan Birney; Anthony J Brookes; Donna R Maglott
Journal:  Genome Med       Date:  2010-04-15       Impact factor: 11.117
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