Hegele RA - Search Results

1

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C, Alajmi M, Bukhari M, Relouw S, Wang J, McIntyre AD, Baker C, Colaiacovo S, Campagnolo C, Almada Offerni G, Blake PG, Chiu M, Cowan A, Garg AX, Gunaratnam L, House AA, Huang SS, Iyer H, Jain AK, Jevnikar AM, Johnson J, Lotfy K, Moist L, Rehman F, Roshanov PS, Sultan N, Weir MA, Basharat P, Florendo-Cumbermack A, Khan T, Thain J, Kidd K, Kmoch S, Bleyer AJ, Bhangu J, Hegele RA, Connaughton DM. Schott C, et al. Among authors: hegele ra. Genes (Basel). 2025 Mar 31;16(4):408. doi: 10.3390/genes16040408. Genes (Basel). 2025. PMID: 40282368 Free PMC article.

2

A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.

Wang J, Killinger DW, Hegele RA. Wang J, et al. Among authors: hegele ra. J Investig Med. 1999 May;47(5):232-5. J Investig Med. 1999. PMID: 10361383

3

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

Wang J, Hegele RA. Wang J, et al. Among authors: hegele ra. Hum Mutat. 2000 Mar;15(3):294-5. doi: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU14>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10679949

4

Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene.

Near SE, Wang J, Hegele RA. Near SE, et al. Among authors: hegele ra. J Hum Genet. 2001;46(8):490-3. doi: 10.1007/s100380170051. J Hum Genet. 2001. PMID: 11501949

5

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J, Huff E, Janecka L, Hegele RA. Wang J, et al. Among authors: hegele ra. Hum Mutat. 2001 Oct;18(4):359. doi: 10.1002/humu.1205. Hum Mutat. 2001. PMID: 11668627

6

Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol.

Keyhan G, Rosset J, Wang J, Miller D, McManus R, Hegele RA. Keyhan G, et al. Among authors: hegele ra. Clin Biochem. 2002 Jul;35(5):341-6. doi: 10.1016/s0009-9120(02)00322-3. Clin Biochem. 2002. PMID: 12270762

7

Polymorphisms in the gene encoding phosphatidylserine-specific phospholipase A1 ( PSPLA1).

Wang J, Wen XY, Stewart AK, Hegele RA. Wang J, et al. Among authors: hegele ra. J Hum Genet. 2002;47(11):611-3. doi: 10.1007/s100380200093. J Hum Genet. 2002. PMID: 12436198

8

Congenital and acquired long QT syndromes.

Walker BD, Krahn AD, Klein GJ, Skanes AC, Wang J, Hegele RA, Yee R. Walker BD, et al. Among authors: hegele ra. Can J Cardiol. 2003 Jan;19(1):76-87. Can J Cardiol. 2003. PMID: 12571698 Review.

9

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

10

Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.

Mymin D, Wang J, Frohlich J, Hegele RA. Mymin D, et al. Among authors: hegele ra. Circulation. 2003 Feb 11;107(5):791. doi: 10.1161/01.cir.0000050545.21826.ad. Circulation. 2003. PMID: 12578886 No abstract available.

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