Hegele RA - Search Results

1

Kinase mutations in human disease: interpreting genotype-phenotype relationships.

Lahiry P, Torkamani A, Schork NJ, Hegele RA. Lahiry P, et al. Among authors: hegele ra. Nat Rev Genet. 2010 Jan;11(1):60-74. doi: 10.1038/nrg2707. Nat Rev Genet. 2010. PMID: 20019687 Review.

2

Genetic determinants of type 2 diabetes mellitus.

Busch CP, Hegele RA. Busch CP, et al. Among authors: hegele ra. Clin Genet. 2001 Oct;60(4):243-54. doi: 10.1034/j.1399-0004.2001.600401.x. Clin Genet. 2001. PMID: 11683767 Review.

3

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Wang J, Hegele RA. Wang J, et al. Among authors: hegele ra. Hum Genet. 2003 Apr;112(4):404-8. doi: 10.1007/s00439-003-0906-8. Epub 2003 Feb 6. Hum Genet. 2003. PMID: 12574942

4

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

Al-Shali K, Wang J, Rosen F, Hegele RA. Al-Shali K, et al. Among authors: hegele ra. Clin Genet. 2003 Feb;63(2):135-8. doi: 10.1046/j.0009-9163.2002.00175.x. Clin Genet. 2003. PMID: 12630961

5

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Bertola DR, et al. Among authors: hegele ra. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865293

6

Phenomics and lamins: from disease to therapy.

Hegele RA, Oshima J. Hegele RA, et al. Exp Cell Res. 2007 Jun 10;313(10):2134-43. doi: 10.1016/j.yexcr.2007.03.023. Epub 2007 Mar 30. Exp Cell Res. 2007. PMID: 17466974 Review.

7

Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders.

Lahiry P, Ban MR, Pollex RL, Feldman RD, Sawyez CG, Huff MW, Young TK, Bjerregaard P, Hegele RA. Lahiry P, et al. Among authors: hegele ra. Int J Circumpolar Health. 2007 Dec;66(5):390-400. doi: 10.3402/ijch.v66i5.18311. Int J Circumpolar Health. 2007. PMID: 18274205 Free article.

8

Genetics of metabolic syndrome.

Joy T, Lahiry P, Pollex RL, Hegele RA. Joy T, et al. Among authors: hegele ra. Curr Diab Rep. 2008 Apr;8(2):141-8. doi: 10.1007/s11892-008-0025-y. Curr Diab Rep. 2008. PMID: 18445357 Review.

9

Plasma lipoproteins: genetic influences and clinical implications.

Hegele RA. Hegele RA. Nat Rev Genet. 2009 Feb;10(2):109-21. doi: 10.1038/nrg2481. Epub 2009 Jan 13. Nat Rev Genet. 2009. PMID: 19139765 Review.

10

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. Lahiry P, et al. Among authors: hegele ra. Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185282 Free PMC article.

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