Hegele RA - Search Results

1

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Among authors: hegele ra. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.

2

An approach to ascertain probands with a non-traditional risk factor for carotid atherosclerosis.

Spence JD, Barnett PA, Bulman DE, Hegele RA. Spence JD, et al. Among authors: hegele ra. Atherosclerosis. 1999 Jun;144(2):429-34. doi: 10.1016/s0021-9150(99)00003-9. Atherosclerosis. 1999. PMID: 10407504

3

Human cathepsin S gene (CTSS) promoter -25G/A polymorphism.

Cao H, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2000;45(2):94-5. doi: 10.1007/s100380050019. J Hum Genet. 2000. PMID: 10721671

4

Human C-reactive protein (CRP) 1059G/C polymorphism.

Cao H, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2000;45(2):100-1. doi: 10.1007/s100380050022. J Hum Genet. 2000. PMID: 10721674

5

Single nucleotide polymorphisms of the fukutin gene.

Cao H, Yuen J, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2001;46(8):487-9. doi: 10.1007/s100380170050. J Hum Genet. 2001. PMID: 11501948

6

Single nucleotide polymorphisms of the resistin (RSTN) gene.

Cao H, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2001;46(9):553-5. doi: 10.1007/s100380170040. J Hum Genet. 2001. PMID: 11558907

7

Identification of single-nucleotide polymorphisms in the human LPIN1 gene.

Cao H, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2002;47(7):370-2. doi: 10.1007/s100380200052. J Hum Genet. 2002. PMID: 12111372

8

Identification of polymorphisms in the human SHP1 gene.

Cao H, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2002;47(8):445-7. doi: 10.1007/s100380200062. J Hum Genet. 2002. PMID: 12181644

9

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

10

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Cao H, Williams C, Carter M, Hegele RA. Cao H, et al. Among authors: hegele ra. J Hum Genet. 2004;49(1):61-63. doi: 10.1007/s10038-003-0107-2. Epub 2003 Dec 6. J Hum Genet. 2004. PMID: 14661080

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