Detalhe da pesquisa
1.
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Nat Genet
; 27(1): 89-93, 2001 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11138005
2.
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Hum Mol Genet
; 19(7): 1302-13, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20061330
3.
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Clin Genet
; 78(5): 424-31, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20618352
4.
The functional effect of pathogenic mutations in Rab escort protein 1.
Mutat Res
; 665(1-2): 44-50, 2009 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19427510
5.
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Nat Commun
; 6: 5614, 2015 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574898
6.
Inhibition of whole blood antibody dependent cellular cytotoxicity by heat aggregated human IgG.
J Immunol Methods
; 46(1): 69-76, 1981.
Artigo
em Inglês
| MEDLINE | ID: mdl-7288199
7.
Human renal allograft rejection is predicted by serial determinations of antibody-dependent cellular cytotoxicity.
Transplantation
; 29(1): 30-4, 1980.
Artigo
em Inglês
| MEDLINE | ID: mdl-6989039
8.
Adverse influence of recipient lymphoid resistance to in vitro immunosuppression on the outcome of kidney transplants.
Transplantation
; 46(6): 853-7, 1988 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-2974655
9.
Growth and development in thanatophoric dysplasia.
Am J Med Genet
; 33(4): 508-12, 1989 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-2596513
10.
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.
Arch Ophthalmol
; 119(4): 564-70, 2001 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11296022
11.
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms.
Am J Ophthalmol
; 132(4): 591-3, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11589893
12.
Summary of heritable ocular disorders and selected systemic conditions with eye findings.
Ophthalmic Genet
; 21(1): 29-49, 2000 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10779848
13.
Mutation analysis in Canadian families with choroideremia.
Ophthalmic Genet
; 17(2): 47-52, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8832720
14.
Summary of ocular genetic disorders and inherited systemic conditions with eye findings.
Ophthalmic Genet
; 19(1): 1-17, 1998 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-9587925
15.
Tele-ophthalmology via stereoscopic digital imaging: a pilot project.
Diabetes Technol Ther
; 2(4): 583-7, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-11469622
16.
Corneal endothelial decompensation after argon laser iridotomy.
Can J Ophthalmol
; 26(7): 367-73, 1991 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-1764642
17.
Effect of retinoic acid on wound healing of laser burns to porcine retinal pigment epithelium.
Can J Ophthalmol
; 31(4): 175-8, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8804754
18.
Cell culture of macular epiretinal membranes.
Can J Ophthalmol
; 27(7): 331-5, 1992 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-1490242
19.
Effect of retinoic acid on expression of transforming growth factor-beta by retinal pigment epithelial cells in culture.
Can J Ophthalmol
; 30(6): 301-5, 1995 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8574976
20.
Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.
Can J Ophthalmol
; 22(1): 21-3, 1987 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-3815151