Search details
1.
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.
BMC Genomics
; 24(1): 75, 2023 Feb 16.
Article
in English
| MEDLINE | ID: mdl-36797672
2.
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Hum Mutat
; 43(12): 2170-2186, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36217948
3.
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int
; 102(2): 405-420, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35643372
4.
Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation Syndrome.
Int J Mol Sci
; 23(11)2022 May 26.
Article
in English
| MEDLINE | ID: mdl-35682657
5.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Hum Mol Genet
; 28(15): 2531-2548, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-30986821
6.
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Am J Med Genet A
; 185(2): 434-439, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33231930
7.
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Genet Med
; 21(10): 2345-2354, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31000793
8.
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
Hum Mol Genet
; 24(22): 6552-63, 2015 Nov 15.
Article
in English
| MEDLINE | ID: mdl-26307087
9.
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
PLoS Genet
; 8(5): e1002611, 2012.
Article
in English
| MEDLINE | ID: mdl-22570627
10.
Variants in ASB10 are associated with open-angle glaucoma.
Hum Mol Genet
; 21(6): 1336-49, 2012 Mar 15.
Article
in English
| MEDLINE | ID: mdl-22156576
11.
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis.
Arthritis Rheum
; 65(5): 1224-31, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23401011
12.
Common genetic variants associated with open-angle glaucoma.
Hum Mol Genet
; 20(12): 2464-71, 2011 Jun 15.
Article
in English
| MEDLINE | ID: mdl-21427129
13.
Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Am J Med Genet A
; 176(1): 134-138, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29168296
14.
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Nat Genet
; 55(7): 1116-1125, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37386247
15.
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Am J Hum Genet
; 85(4): 447-56, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19765683
16.
Absence of NR2E1 mutations in patients with aniridia.
Mol Vis
; 18: 2770-82, 2012.
Article
in English
| MEDLINE | ID: mdl-23213277
17.
LOXL1 deficiency in the lamina cribrosa as candidate susceptibility factor for a pseudoexfoliation-specific risk of glaucoma.
Ophthalmology
; 119(9): 1832-43, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22633114
18.
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Invest Ophthalmol Vis Sci
; 62(14): 24, 2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34807235
19.
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.
Genes (Basel)
; 12(3)2021 03 02.
Article
in English
| MEDLINE | ID: mdl-33801495
20.
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.
BMC Bioinformatics
; 11: 472, 2010 Sep 21.
Article
in English
| MEDLINE | ID: mdl-20858257