The genetic and environmental factors for keratoconus
A Gordon-Shaag, M Millodot… - BioMed research …, 2015 - Wiley Online Library
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone‐
shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It …
shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It …
The Ehlers–Danlos syndromes, rare types
AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
A user's guide to the encyclopedia of DNA elements (ENCODE)
ENCODE Project Consortium - PLoS biology, 2011 - journals.plos.org
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the
scientific and medical communities to interpret the human genome sequence and apply it to …
scientific and medical communities to interpret the human genome sequence and apply it to …
A user's guide to the encyclopedia of DNA elements (ENCODE)
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the
scientific and medical communities to interpret the human genome sequence and apply it to …
scientific and medical communities to interpret the human genome sequence and apply it to …
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Central corneal thickness (CCT) is associated with eye conditions including keratoconus
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …
Major review: Molecular genetics of primary open-angle glaucoma
Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …
glaucoma (POAG), the most common type, is a complex inherited disorder that is …
Primary open-angle glaucoma genes
JH Fingert - Eye, 2011 - nature.com
A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle
glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie …
glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie …
The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology
SF Janssen, TGMF Gorgels, WD Ramdas… - Progress in retinal and …, 2013 - Elsevier
Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy
triggered by both environmental and genetic risk factors. Several ocular tissues, including …
triggered by both environmental and genetic risk factors. Several ocular tissues, including …
Common genetic determinants of intraocular pressure and primary open-angle glaucoma
LME van Koolwijk, WD Ramdas, MK Ikram… - PLoS …, 2012 - journals.plos.org
Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma
and is the only target for current glaucoma therapy. The genetic factors which determine IOP …
and is the only target for current glaucoma therapy. The genetic factors which determine IOP …