- ►bmj.com M Michaelides, DM Hunt, AT Moore - British Medical Journal, 2003 - jmg.bmj.com The inherited macular dystrophies comprise a heterogeneous group of disorders
characterised by central visual loss and atrophy of the macula and underlying
retinal pigment epithelium (RPE). The different forms of macular ... Cited by 37 - Related articles - BL Direct - All 6 versions
Y Bae, H Kim, M Paik, J Lee, D Hwang, Y … - Molecular and cellular probes, 2004 - Elsevier Autosomal dominant polycystic kidney disease (ADPKD) maps to chromosome 16p13.3
(PKD1) and to chromosome 4q21-23 (PKD2), with the likelihood of a third unmapped
locus. The size and genomic complexity of the PKD1 gene make it impractical ... Cited by 3 - Related articles - All 5 versions
- ►iovs.org M Michaelides, SA Jenkins, MA Brantley Jr, … - Investigative ophthalmology & visual science, 2006 - ARVO RESULTS. Twenty-nine subjects from 19 families were ascertained with inherited
or early-onset drusen. Twenty-four (83%) subjects from 15 families were found to
harbor the R345W fibulin-3 mutation. Peripapillary deposition and a radial ... Cited by 3 - Related articles - BL Direct - All 4 versions
L Takács, G Losonczy, K Matesz, I Balogh, Z … - Mol Vis, 2007 - molvis.org 5q31 linked corneal dystrophies are a clinically and his- tologically
heterogeneous group of autosomal dominantly in- herited corneal disorders. All
these dystrophies result from mutations in the Transforming Growth Factor ... Cited by 2 - Related articles - View as HTML - All 4 versions
[CITATION] Pattern Dystrophies
MB Reichel, RE Kelsell, J Fan… - Diseases of the Ocular Fundus, 2005 - Mosby Inc Related articles
AT Moore - Current Opinion in Ophthalmology, 2009 - journals.lww.com Introduction Childhood macular dystrophies are a genetically hetero- geneous
group of disorders associated with, usually pro- gressive, macular dysfunction.
Mostly present in early teens with central visual loss but there is an ... Related articles - All 3 versions
Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis … - British Medical Journal, 2006 - jmg.bmj.com Kamaya, G Aperis, MB Petersen and K Zhang Z Yang, G Kitsos, Z Tong, M Payne, S
Gorezis, K Psilas, M Grigoriadou, Y Zhao, S ... Greek family autosomal-dominant
macular dystrophy in a large A novel locus on 19q13 associated with Related articles - All 2 versions