Detalhe da pesquisa
1.
Detection and genetic characterization of Seoul virus from commensal brown rats in France.
Virol J
; 11: 32, 2014 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-24555484
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.
Alterations of the RRAS and ERCC1 genes at 19q13 in gemistocytic astrocytomas.
J Neuropathol Exp Neurol
; 73(10): 908-15, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25192052
8.
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
9.
Molecular characterization of the AMPA-receptor potentiator S70340 in rat primary cortical culture: whole-genome expression profiling.
Neurosci Res
; 70(4): 349-60, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21609738
10.
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