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Items: 1 to 20 of 65

1.

Response to Stenson et al on the review of general mutation databases.

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

J Med Genet. 2008 May;45(5):319-20. No abstract available.

PMID:
18443151
2.

[Type IX collagen diseases].

Matsui Y.

Clin Calcium. 2006 Nov;16(11):1894-8. Review. Japanese.

PMID:
17079858
3.

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.

4.

Genetic and orthopedic aspects of collagen disorders.

Carter EM, Raggio CL.

Curr Opin Pediatr. 2009 Feb;21(1):46-54. Review.

PMID:
19253462
5.

Human Gene Mutation Database: towards a comprehensive central mutation database.

Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN.

J Med Genet. 2008 Feb;45(2):124-6. doi: 10.1136/jmg.2007.055210. No abstract available.

PMID:
18245393
6.

A database of locus-specific databases.

Horaitis O, Talbot CC Jr, Phommarinh M, Phillips KM, Cotton RG.

Nat Genet. 2007 Apr;39(4):425. No abstract available.

PMID:
17392794
8.

Cataloging coding sequence variations in human genome databases.

Won HH, Kim HJ, Lee KA, Kim JW.

PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30.

9.

Human mutation databases.

Horaitis O, Cotton RG.

Curr Protoc Hum Genet. 2005 Feb;Chapter 7:Unit 7.11. doi: 10.1002/0471142905.hg0711s44.

PMID:
18428382
10.

The HUGO Mutation Database Initiative. Human Genome Organization.

Cotton RG, Horaitis O.

Pharmacogenomics J. 2002;2(1):16-9. No abstract available.

PMID:
11990375
11.

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
12.

Pseudomitochondrial genome haunts disease studies.

Yao YG, Kong QP, Salas A, Bandelt HJ.

J Med Genet. 2008 Dec;45(12):769-72. doi: 10.1136/jmg.2008.059782. Epub 2008 Jul 8. Review.

PMID:
18611982
13.

Genetics of chronic obstructive pulmonary disease: a succinct review, future avenues and prospective clinical applications.

Bossé Y.

Pharmacogenomics. 2009 Apr;10(4):655-67. doi: 10.2217/pgs.09.10. Review.

PMID:
19374520
14.

Genetic privacy. Whole-genome data not anonymous, challenging assumptions.

Couzin J.

Science. 2008 Sep 5;321(5894):1278. doi: 10.1126/science.321.5894.1278. No abstract available.

PMID:
18772401
16.

Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study.

Bahl S, Ahmed I; Indian Genome Variation Consortium, Mukerji M.

J Genet. 2009 Apr;88(1):55-60.

17.

HGVbaseG2P: a central genetic association database.

Thorisson GA, Lancaster O, Free RC, Hastings RK, Sarmah P, Dash D, Brahmachari SK, Brookes AJ.

Nucleic Acids Res. 2009 Jan;37(Database issue):D797-802. doi: 10.1093/nar/gkn748. Epub 2008 Oct 23.

18.

Revitalizing difference in the HapMap: race and contemporary human genetic variation research.

Hamilton JA.

J Law Med Ethics. 2008 Fall;36(3):471-7. doi: 10.1111/j.1748-720X.2008.293.x.

PMID:
18840238
19.

[Development of genome-wide association database].

Koike A, Nishida N, Tokunaga K.

Tanpakushitsu Kakusan Koso. 2008 Jun;53(7):882-7. Review. Japanese. No abstract available.

PMID:
18536350
20.

A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.

Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, Fan M, Shen Y, Wang S.

Am J Med Genet A. 2009 Mar;149A(3):521-4. doi: 10.1002/ajmg.a.32647. No abstract available.

PMID:
19208383
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