Dermatology and the human genome: An epidemiologic approach

Archives of Dermatology

Volumn 143, Issue 9, 2007, Pages 1194-1195

  Gwinn, Marta ^a   Khoury, Muin J ^a  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOSIS NIGRICANS; ALLELE; AUTOSOMAL DOMINANT INHERITANCE; DISEASE ASSOCIATION; EDITORIAL; ERYTHROPOIETIC PROTOPORPHYRIA; GENE FUNCTION; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN GENOME; HYPOTHYROIDISM; INHERITANCE; MEDICAL GENETICS; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SKIN DISEASE;

DATABASES, GENETIC; EPIDEMIOLOGIC METHODS; GENETICS, POPULATION; GENOMICS; HUMANS; SKIN DISEASES;

EID: 34548815686     PISSN: 0003987X     EISSN: 0003987X     Source Type: Journal    
DOI: 10.1001/archderm.143.9.1194     Document Type: Editorial

References (21)

1. Templeton HJ Skin lesions as diagnostic aids in general medicine. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1655038. Accessed April 16, 2007.
2. Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin Genet. 2006;70(4):275-282.
3. Berk DR, Spector EB, Bayliss SJ. Familial acanthosis nigricans due to K650T FGFR3 mutation. Arch Dermatol. 2007;143(9):1153-1156.
4. España A, García-Amigot F, Aguado L, García-Foncillas J. A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. Arch Dermatol. 2007;143(9):1209- 1210.
5. Herrero C, To-Figueras J, Badenas C, et al. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Arch Dermatol. 2007;143(9):1125-1129.
6. Courtois G, Gilmore TD. Mutations in the NF-kappaB signaling pathway: implications for human disease. Oncogene. 2006;25(51):6831-6843.
7. Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002;30(1):27-28.
8. McKusick VA. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Baltimore, MD: Johns Hopkins University Press; 1998.
9. OMIM - Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/ entrez/query.fcgi?db=OMIM. Accessed April 16, 2007.
10. Human Intermediate Filament Database. http://www.interfil.org. Accessed April 16, 2007.
11. HGVS - Human Genome Variation Society. http://www.hgvs.org. Accessed April 16, 2007.
12. Cotton RG; Participants in the 2006 Human Variome Project meeting. Recommendations of the 2006 Human Variome Project meeting. Nat Genet. 2007;39(4):433-436.
13. Hattersley AT, McCarthy MI. What makes a good genetic association study? Lancet. 2005;366(9493):1315-1323.
14. Khoury MJ, Little J, Burke W, eds. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. New York, NY: Oxford University Press; 2004.
15. National Office of Public Health Genomics. Human Genome Epidemiology Network. http://www.cdc.gov/genomics/hugenet/. Accessed April 16, 2007.
16. Ioannidis JP, Gwinn M, Little J, et al. A road map for efficient and reliable human genome epidemiology. Nat Genet. 2006;38(1):3-5.
17. GDPInfo. Genomics and Disease Prevention Information System. http://apps.nccd.cdc.gov/genomics/GDPQueryTool/default.asp. Accessed April 16, 2007.
18. Lin BK, Clyne M, Walsh M, et al. Tracking the epidemiology of human genes in the literature: the HuGE Published Literature database. Am J Epidemiol. 2006;164(1):1-4.
19. Ioannidis JP, Bernstein J, Boffetta P, et al. A network of investigator networks in human genome epidemiology. Am J Epidemiol. 2005;162(4):302-304.
20. Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007;8(2):157-164.
21. Little J, Higgins J, eds. The HuGENet HuGE Review Handbook, Version 1.0. http://www.genesens.net/_intranet/doc_nouvelles/HuGE%20Review%20Handbook%20v11. pdf. Accessed April 16, 2006.