Detalhe da pesquisa
1.
Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.
Clin Genet
; 84(3): 290-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23134348
2.
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
J Mol Med (Berl)
; 83(12): 1025-32, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16283141
3.
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Hum Mutat
; 26(6): 591, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16287143
4.
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
J Med Genet
; 40(12): 879-84, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14684684
5.
[From gene to disease; Leber congenital amaurosis (LCA)]. / Van gen naar ziekte; amaurosis congenita van Leber.
Ned Tijdschr Geneeskd
; 149(42): 2334-7, 2005 Oct 15.
Artigo
em Holandês
| MEDLINE | ID: mdl-16261712
6.
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Hum Mutat
; 22(5): 395-403, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517951
7.
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Novartis Found Symp
; 255: 68-79; discussion 79-84, 177-8, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-14750597
8.
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
Ophthalmic Genet
; 23(1): 1-12, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11910553
9.
[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]. / Van gen naar ziekte; van het ABCA4-gen naar de ziekte van Stargardt, kegel-stavendystrofie en retinitis pigmentosa.
Ned Tijdschr Geneeskd
; 146(34): 1581-4, 2002 Aug 24.
Artigo
em Holandês
| MEDLINE | ID: mdl-12224481
10.
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.
J Med Genet
; 41(9): 699-702, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15342701
11.
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
J Med Genet
; 40(9): 709-13, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12960219
12.
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
Genomics
; 82(4): 480-90, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-13679028
13.
X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3).
Adv Otorhinolaryngol
; 61: 161-7, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12408080