Search details
1.
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
Mol Vis
; 12: 324-30, 2006 Apr 10.
Article
in English
| MEDLINE | ID: mdl-16636648
2.
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
Am J Ophthalmol
; 141(1): 208-10, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16387007
3.
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.
Am J Ophthalmol
; 139(2): 386-8, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15734019
4.
A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.
Am J Ophthalmol
; 138(3): 504-5, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15364249
5.
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
Am J Ophthalmol
; 138(1): 171-3, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15234312
6.
Functional polymorphisms of the coagulation factor II gene (F2) and susceptibility to systemic lupus erythematosus.
J Rheumatol
; 38(4): 652-7, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21239755
7.
Bilateral microphthalmos with colobomatous orbital cyst.
J Pediatr Ophthalmol Strabismus
; 39(2): 110-3, 2002.
Article
in English
| MEDLINE | ID: mdl-11926178
8.
Apolipoprotein H promoter polymorphisms in relation to lupus and lupus-related phenotypes.
J Rheumatol
; 36(2): 315-22, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-19132787
9.
Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.
J Rheumatol
; 34(8): 1708-11, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17516623
10.
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
Am J Hum Genet
; 70(4): 1049-53, 2002 Apr.
Article
in English
| MEDLINE | ID: mdl-11857109
11.
Is tamoxifen a risk factor for retinal vaso-occlusive disease?
Retina
; 25(4): 523-6, 2005 Jun.
Article
in English
| MEDLINE | ID: mdl-15933605
Results
1 -
11
de 11
1
Next >
>>