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Items: 1 to 20 of 79

1.

COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

Jho S, Kim BC, Ghang H, Kim JH, Park D, Kim HM, Jung SY, Yoo KY, Kim HJ, Lee S, Bhak J.

BMC Genomics. 2009 Dec 3;10 Suppl 3:S35. doi: 10.1186/1471-2164-10-S3-S35.

2.

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Claustres M, Horaitis O, Vanevski M, Cotton RG.

Genome Res. 2002 May;12(5):680-8.

3.

UMD (Universal Mutation Database): 2005 update.

Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M.

Hum Mutat. 2005 Sep;26(3):184-91.

PMID:
16086365
4.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE.

Hum Mutat. 2008 Jan;29(1):6-13.

PMID:
18000842
5.

A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.

Zaimidou S, van Baal S, Smith TD, Mitropoulos K, Ljujic M, Radojkovic D, Cotton RG, Patrinos GP.

Hum Mutat. 2009 Mar;30(3):308-13. doi: 10.1002/humu.20857.

PMID:
19021233
6.

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Fokkema IF, den Dunnen JT, Taschner PE.

Hum Mutat. 2005 Aug;26(2):63-8.

PMID:
15977173
7.

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C.

Hum Mutat. 2000;15(1):86-94.

PMID:
10612827
8.

DRUMS: a human disease related unique gene mutation search engine.

Li Z, Liu X, Wen J, Xu Y, Zhao X, Li X, Liu L, Zhang X.

Hum Mutat. 2011 Oct;32(10):E2259-65. doi: 10.1002/humu.21556.

PMID:
21913285
9.

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.

Hum Mutat. 2004 Sep;24(3):189-93.

PMID:
15300845
10.

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PMID:
21520333
11.

Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

Patrinos GP, van Baal S, Petersen MB, Papadakis MN.

Hum Mutat. 2005 Apr;25(4):327-33.

PMID:
15776445
12.

High-throughput identification, database storage and analysis of SNPs in EST sequences.

Useche FJ, Gao G, Harafey M, Rafalski A.

Genome Inform. 2001;12:194-203.

PMID:
11791238
13.

HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.

Kalmár L, Hegedüs T, Farkas H, Nagy M, Tordai A.

Hum Mutat. 2005 Jan;25(1):1-5.

PMID:
15580551
14.

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Béroud C, Collod-Béroud G.

Hum Mutat. 2008 Jan;29(1):33-8.

PMID:
17935258
15.

The BiolAD-DB system : an informatics system for clinical and genetic data.

Nielsen DA, Leidner M, Haynes C, Krauthammer M, Kreek MJ.

Mol Diagn Ther. 2007;11(1):15-9.

PMID:
17286447
16.

Curating gene variant databases (LSDBs): toward a universal standard.

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT.

Hum Mutat. 2012 Feb;33(2):291-7. doi: 10.1002/humu.21626. Epub 2011 Nov 3.

PMID:
21990126
17.

WebTraceMiner: a web service for processing and mining EST sequence trace files.

Liang C, Wang G, Liu L, Ji G, Liu Y, Chen J, Webb JS, Reese G, Dean JF.

Nucleic Acids Res. 2007 Jul;35(Web Server issue):W137-42. Epub 2007 May 8.

18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

Guidelines for establishing locus specific databases.

Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG.

Hum Mutat. 2012 Feb;33(2):298-305. doi: 10.1002/humu.21646. Epub 2011 Dec 9.

PMID:
22052659
20.

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration.

Olivier M, Petitjean A, Teague J, Forbes S, Dunnick JK, den Dunnen JT, Langerød A, Wilkinson JM, Vihinen M, Cotton RG, Hainaut P; IARC; EC FP6.

Hum Mutat. 2009 Mar;30(3):275-82. doi: 10.1002/humu.20832.

PMID:
19006239
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