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Items: 18

1.

Human Gene Mutation Database (HGMD): 2003 update.

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN.

Hum Mutat. 2003 Jun;21(6):577-81.

PMID:
12754702
2.
3.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN.

Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Review.

4.

General mutation databases: analysis and review.

George RA, Smith TD, Callaghan S, Hardman L, Pierides C, Horaitis O, Wouters MA, Cotton RG.

J Med Genet. 2008 Feb;45(2):65-70. Epub 2007 Sep 24. Review.

5.

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD.

Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Review.

PMID:
20506564
6.

MutationView/KMcancerDB: a database for cancer gene mutations.

Shimizu N, Ohtsubo M, Minoshima S.

Cancer Sci. 2007 Mar;98(3):259-67. Epub 2007 Jan 12. Review. Erratum in: Cancer Sci. 2007 May;98(5):764-5.

7.

An update of the HLA genomic region, locus information and disease associations: 2004.

Shiina T, Inoko H, Kulski JK.

Tissue Antigens. 2004 Dec;64(6):631-49. Review.

PMID:
15546336
8.

The UMD-p53 database: new mutations and analysis tools.

BĂ©roud C, Soussi T.

Hum Mutat. 2003 Mar;21(3):176-81. Review.

PMID:
12619103
9.

Gross Rearrangement Breakpoint Database (GRaBD).

Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN.

Hum Mutat. 2004 Mar;23(3):219-21. Review.

PMID:
14974079
10.

Review of the molecular characteristics of gene mutations of the germline and somatic cells of the human.

Mohrenweiser HW, Jones IM.

Mutat Res. 1990 Jul;231(1):87-108. Review.

PMID:
2195325
11.

[Construction of a knowledge-base of mutations in gene diseases].

Minoshima S, Shimizu N.

Tanpakushitsu Kakusan Koso. 2001 Dec;46(16 Suppl):2567-74. Review. Japanese. No abstract available.

PMID:
11802431
12.

Disease-causing mutations in the human genome.

Antonarakis SE, Krawczak M, Cooper DN.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S173-8. Review.

PMID:
11216894
13.

The origins, patterns and implications of human spontaneous mutation.

Crow JF.

Nat Rev Genet. 2000 Oct;1(1):40-7. Review.

PMID:
11262873
14.

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN, Kehrer-Sawatzki H.

Hum Genomics. 2011 Jan;5(2):99-107. Review.

15.

Molecular genetic epidemiology of human diseases: from patterns to predictions.

Knecht C, Krawczak M.

Hum Genet. 2014 Apr;133(4):425-30. doi: 10.1007/s00439-013-1396-y. Epub 2013 Nov 19. Review.

PMID:
24241280
16.

Cytokine gene polymorphism in human disease: on-line databases, supplement 1.

Bidwell J, Keen L, Gallagher G, Kimberly R, Huizinga T, McDermott MF, Oksenberg J, McNicholl J, Pociot F, Hardt C, D'Alfonso S.

Genes Immun. 2001 Apr;2(2):61-70. Review. No abstract available.

17.

[The application of human mutation databases].

Zuang YL, Zhou M, Li YD, Shen Y.

Yi Chuan. 2004 Jul;26(4):514-8. Review. Chinese.

PMID:
15640052
18.

Biological markers in exposed humans: gene mutation.

Lambert B.

IARC Sci Publ. 1992;(116):535-42. Review. No abstract available.

PMID:
1428096

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