Aneliya Velkova
Overview
Explore the profile of Aneliya Velkova including associated specialties, affiliations and a list of published articles.
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14
Citations
260
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Recent Articles
1.
Velkova A, Diaz J, Pangilinan F, Molloy A, Mills J, Shane B, et al.
Hum Mol Genet
. 2017 Oct;
26(24):4975-4988.
PMID: 29040465
Vitamin B12 deficiency is common in older individuals. Circulating vitamin B12 concentration can be used to diagnose deficiency, but this test has substantial false positive and false negative rates. We...
2.
Molloy A, Pangilinan F, Mills J, Shane B, ONeill M, McGaughey D, et al.
Am J Hum Genet
. 2016 May;
98(5):869-882.
PMID: 27132595
Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase. Elevated MMA concentrations are a hallmark of several inborn errors of...
3.
Sobczynska-Malefora A, Pangilinan F, Plant G, Velkova A, Harrington D, Molloy A, et al.
Eur J Clin Invest
. 2016 Mar;
46(5):434-9.
PMID: 26951924
Background: The clinical use of holotranscobalamin (holoTC) testing to evaluate vitamin B12 status has increased in recent years. We present two patients (African Caribbean and Indian heritage), in which the...
4.
Jhuraney A, Velkova A, Johnson R, Kessing B, Carvalho R, Whiley P, et al.
J Med Genet
. 2015 Feb;
52(4):224-30.
PMID: 25643705
Background: Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1...
5.
Carvalho R, Abreu R, Velkova A, Marsillac S, Rodarte R, Suarez-Kurtz G, et al.
PLoS One
. 2014 May;
9(5):e97766.
PMID: 24845084
Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the...
6.
Permuth-Wey J, Lawrenson K, Shen H, Velkova A, Tyrer J, Chen Z, et al.
Nat Commun
. 2013 Mar;
4:1627.
PMID: 23535648
Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3'...
7.
Millot G, Carvalho M, Caputo S, Vreeswijk M, Brown M, Webb M, et al.
Hum Mutat
. 2012 Jul;
33(11):1526-37.
PMID: 22753008
Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56-80% for breast cancer and 15-60% for ovarian cancer. Since the mid 1990s when BRCA1 was...
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Velkova A, Carvalho M, Johnson J, Tavtigian S, Monteiro A
Cell Cycle
. 2010 Mar;
9(7):1421-33.
PMID: 20305393
The product of the breast and ovarian cancer susceptibility gene BRCA1 has been implicated in several aspects of the DNA damage response but its biochemical function in these processes has...