D Stambolian
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Explore the profile of D Stambolian including associated specialties, affiliations and a list of published articles.
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34
Citations
428
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Recent Articles
1.
Diniz B, Rodger D, Chavali V, Mackay T, Lee S, Stambolian D, et al.
Eye (Lond)
. 2015 Feb;
29(2):300.
PMID: 25672510
No abstract available.
2.
Diniz B, Rodger D, Chavali V, Mackay T, Lee S, Stambolian D, et al.
Eye (Lond)
. 2014 Nov;
29(2):272-9.
PMID: 25376121
Purpose: Correlate OCT-derived measures of drusen and retinal pigment epithelium (RPE) atrophy areas (RAs) with demographic features in an elderly population. Patients And Methods: Subjects aged 50 years and older...
3.
Stambolian D
Clin Genet
. 2013 May;
84(2):102-8.
PMID: 23647423
Refractive errors, myopia and hyperopia, are the most common causes of visual impairment worldwide. Recent advances in genetics have been utilized to identify a wealth of genetic loci believed to...
4.
Strunnikova N, Maminishkis A, Barb J, Wang F, Zhi C, Sergeev Y, et al.
Hum Mol Genet
. 2010 Apr;
19(12):2468-86.
PMID: 20360305
Retinal pigment epithelium (RPE) is a polarized cell layer critical for photoreceptor function and survival. The unique physiology and relationship to the photoreceptors make the RPE a critical determinant of...
5.
Heath S, Robledo R, Beggs W, Feola G, Parodo C, Rinaldi A, et al.
Hum Hered
. 2001 Nov;
52(4):183-90.
PMID: 11713414
Autosomal dominant high myopia, a genetic disorder already mapped to region 18p11.31, is common in Carloforte (Sardinia, Italy), an isolated village of 8,000 inhabitants descending from a founder group of...
6.
Ades S, Schenkein D, Brooks D, Stambolian D, Raizman M
Am J Ophthalmol
. 2001 Nov;
132(5):786-8.
PMID: 11704046
Purpose: To provide detailed description and illustration of the lens changes found in hereditary hyperferritinemia-cataract syndrome, a newly reported autosomal dominant condition. Methods: Observational case reports. A 19-year-old man was...
7.
Ai Y, Zheng Z, Bernard D, Ning C, Reynolds R, Segal S, et al.
Hum Mol Genet
. 2000 Aug;
9(12):1821-7.
PMID: 10915771
Galactokinase (GK; EC 2.7.1.6) is the first enzyme in the metabolism of galactose. In humans, GK deficiency results in congenital cataracts due to an accumulation of galactitol within the lens....
8.
Hodes M, Woodward K, Spinner N, Emanuel B, Kamholz J, Stambolian D, et al.
Am J Hum Genet
. 2000 May;
67(1):14-22.
PMID: 10827108
The proteolipid protein gene (PLP) is normally present at chromosome Xq22. Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD). Here we describe two new families in...
9.
Kolosha V, Anoia E, DE CESPEDES C, GITZELMANN R, Shih L, Casco T, et al.
Hum Mutat
. 2000 May;
15(5):447-53.
PMID: 10790206
Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13...
10.
GRIMES P, Koeberlein B, Favor J, Stambolian D
Invest Ophthalmol Vis Sci
. 1998 Sep;
39(10):1863-9.
PMID: 9727409
Purpose: Cat4a, one of four mutant alleles at the mouse Cat4 locus, causes central corneal opacity and anterior polar cataract in heterozygotes and microphthalmia in homozygotes. The Cat4 locus has...