Language
English
German
^M
Dutch
Spanish
Title:
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
Source:
European Journal of Human Genetics [1018-4813] Prokudin, Ivan yr:2013
Basic
Full text
Full text available via
Nature
Year:
Volume:
Issue:
Start Page:
Full text available via
PubMed Central
Year:
Volume:
Issue:
Start Page:
Document delivery
Request document via
Library/Bibliothek
Users interested in this article also expressed an interest in the following:
description
1.
Abu Amero, K.
"CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia."
Ophthalmic genetics
36.2 (2013): 184-187.
description
2.
Lee, Hyunjoo J.
"A Review of the Clinical and Genetic Aspects of Aniridia."
Seminars in ophthalmology
28.5/6 (2013): 306-312.
description
3.
Hingorani, M.
"Aniridia."
European journal of human genetics
20.10 (2012): 1011-1017.
description
4.
Gupta, V.
"Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma."
Graefe's Archive for Clinical and Experimental Ophthalmology
256.2 (2018): 355-362.
description
5.
Awadalla, Mona S.
"Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma."
American journal of ophthalmology.
159.1: 124-1300.
description
6.
Zhao, Y.
"Cyp1b1 mediates periostin regulation of trabecular meshwork development by suppression of oxidative stress."
Molecular and cellular biology
33.21 (2013): 4225-4240.
description
7.
Netland, Peter A.
"Ocular and systemic findings in a survey of aniridia subjects."
Journal of AAPOS
15.6 (2011): 562-566.
description
8.
Nelson, L B B.
"Aniridia. A review."
Survey of Ophthalmology
28.6: 621-42.
description
9.
Feuer, Claudia P J.
"Use of glaucoma drainage devices in the management of glaucoma associated with aniridia."
American journal of ophthalmology
135.2 (2003): 155-9.
description
10.
O'Keefe, R.
"Aniridia: current pathology and management."
Acta ophthalmologica
86.7 (2008): 708-15.
description
11.
Kokotas, H.
"Clinical and molecular aspects of aniridia."
Clinical genetics
77.5 (2010): 409-420.
description
12.
Brauner, Stacey C C.
"Aniridia."
International ophthalmology clinics
48.2 (2008): 79-85.
description
13.
Khaw, Peng T T.
"Aniridia."
Journal of glaucoma
11.2 (2002): 164-8.
description
14.
GrÃnskov, K.
"Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia."
Human genetics
109.1 (2001): 11-18.
description
15.
Chien, Yin-Hsuan H.
"Eye anomalies and neurological manifestations in patients with PAX6 mutations."
Molecular vision
15.230-32 (2009): 2139-2145.
description
16.
Eksandh, L.
"Clinical features of achromatopsia in Swedish patients with defined genotypes."
Ophthalmic genetics
23.2 (2002): 109-120.
description
17.
Reis, Linda M.
"Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes."
Molecular vision
22 (2016): 1229-1238.
description
18.
Jain, V.
"The association between cigarette smoking and primary open-angle glaucoma: a systematic review."
International Ophthalmology
37.1 (2016): 1-11.
description
19.
Lee, Na Y.
"Efficacy of Additional Glaucoma Drainage Device Insertion in Refractory Glaucoma: Case Series with a Systematic Literature Review and Meta-Analysis."
Seminars in ophthalmology
30.5-6 (2015): 345-351.
description
20.
Cooke Bailey, Jessica N.
"The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review."
Journal of Clinical Medicine
5.3 (2016).
View More...
View Less...
Select All
Clear All
Save Citations
Select Format
RefWorks
Reference Manager
EndNote
ProCite
Submit citation export
Advanced
Author
Other articles by this author? -- in
GeoRef
author:
Prokudin, Ivan
Simons, Cas
Grigg, John R
Storen, Rebecca
Kumar, Vikrant
Phua, Zai Y
Smith, James
Flaherty, Maree
Davila, Sonia
Jamieson, Robyn V
last name
initials
Other articles by this author? -- in
Online Contents Geosciences
author:
Prokudin, Ivan
Simons, Cas
Grigg, John R
Storen, Rebecca
Kumar, Vikrant
Phua, Zai Y
Smith, James
Flaherty, Maree
Davila, Sonia
Jamieson, Robyn V
last name
initials
Other articles by this author? -- using
Web of Science
author:
Prokudin, Ivan
Simons, Cas
Grigg, John R
Storen, Rebecca
Kumar, Vikrant
Phua, Zai Y
Smith, James
Flaherty, Maree
Davila, Sonia
Jamieson, Robyn V
last name
initials
Web Search
Find related information in
a Web Search Engine
Excite
Google
HotBot
Ixquick
ZOO
Ask
Yahoo!
Bing
Naver
Search Terms:
Search for related information in
Google Scholar
Article Title
Author Name
Journal Title
Other Search
Search Terms:
A service provided by the
Library of the Wissenschaftspark Albert Einstein
, Potsdam, Germany.
© 2005 SFX by Ex Libris Inc.