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R Ramesar
R Ramesar
Professor of Human Genetics, University of Cape Town, South Africa
Email confirmado em uct.ac.za
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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ...
Cell 107 (4), 513-523, 2001
26682001
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
J Burn, AM Gerdes, F Macrae, JP Mecklin, G Moeslein, S Olschwang, ...
The Lancet 378 (9809), 2081-2087, 2011
11352011
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ...
Nature genetics 46 (2), 107-115, 2014
4872014
The molecular genetics of cognition: dopamine, COMT and BDNF
J Savitz, M Solms, R Ramesar
Genes, brain and behavior 5 (4), 311-328, 2006
3912006
Reconstructing prehistoric African population structure
P Skoglund, JC Thompson, ME Prendergast, A Mittnik, K Sirak, ...
Cell 171 (1), 59-71. e21, 2017
3842017
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome
J Burn, DT Bishop, JP Mecklin, F Macrae, G Möslein, S Olschwang, ...
New England Journal of Medicine 359 (24), 2567-2578, 2008
3572008
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
AB McKie, JC McHale, TJ Keen, EE Tarttelin, R Goliath, ...
Human molecular genetics 10 (15), 1555-1562, 2001
3362001
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Y Gong, M Vikkula, L Boon, J Liu, P Beighton, R Ramesar, L Peltonen, ...
American journal of human genetics 59 (1), 146, 1996
3251996
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind …
J Burn, H Sheth, F Elliott, L Reed, F Macrae, JP Mecklin, G Möslein, ...
The Lancet 395 (10240), 1855-1863, 2020
2942020
Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium
LA Farrer, KM Grundfast, J Amos, KS Arnos, JH Asher, P Beighton, ...
American journal of human genetics 50 (5), 902, 1992
2881992
Neuropsychological dysfunction in bipolar affective disorder: a critical opinion
J Savitz, M Solms, R Ramesar
Bipolar disorders 7 (3), 216-235, 2005
2732005
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ...
The American Journal of Human Genetics 71 (2), 262-275, 2002
2482002
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset
LPW Ranum, MY Chung, S Banfi, A Bryer, LJ Schut, R Ramesar, ...
American journal of human genetics 55 (2), 244, 1994
2241994
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
MD Weston, JD Eudy, S Fujita, SF Yao, S Usami, C Cremers, J Greenburg, ...
The American Journal of Human Genetics 66 (4), 1199-1210, 2000
2142000
Enabling the genomic revolution in Africa: H3Africa is developing capacity for health-related genomics research in Africa
H3Africa Consortium
Science (New York, NY) 344 (6190), 1346, 2014
2132014
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ...
The American Journal of Human Genetics 68 (6), 1321-1326, 2001
2102001
Warriors versus worriers: the role of COMT gene variants
DJ Stein, TK Newman, J Savitz, R Ramesar
CNS spectrums 11 (10), 745-748, 2006
2002006
Genetic variants implicated in personality: a review of the more promising candidates
JB Savitz, RS Ramesar
American journal of medical genetics Part B: Neuropsychiatric genetics 131 …, 2004
1982004
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
L Gleghorn, R Ramesar, P Beighton, G Wallis
The American Journal of Human Genetics 77 (3), 484-490, 2005
1932005
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
DC Rubinsztein, W Amos, J Leggo, S Goodburn, RS Ramesar, J Old, ...
Nature Genetics 7 (4), 525-530, 1994
1851994
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