Detalhe da pesquisa
1.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
2.
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Hum Mol Genet
; 26(14): 2667-2677, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475715
3.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
; 99(6): 1305-1315, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889058
4.
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
Hum Mutat
; 39(4): 471-494, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314435
5.
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.
BMC Bioinformatics
; 18(1): 147, 2017 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253855
6.
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
Hum Genet
; 134(7): 717-35, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25896808