Detalhe da pesquisa
1.
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
Eur J Hum Genet
; 14(12): 1269-73, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16896346
2.
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
Hum Mutat
; 25(2): 222, 2005 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-15643614
3.
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
Hum Mutat
; 20(4): 322-3, 2002 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-12325031
4.
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hum Mutat
; 23(4): 306-17, 2004 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15024725
5.
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
Eur J Hum Genet
; 11(12): 966-71, 2003 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-14508503
6.
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
Ophthalmic Genet
; 23(4): 225-35, 2002 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-12567265
7.
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.
Adv Exp Med Biol
; 572: 21-7, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-17249550
8.
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Am J Hum Genet
; 75(4): 639-46, 2004 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-15322982
9.
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
Am J Hum Genet
; 71(6): 1480-2, 2002 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-12515255