Detalhe da pesquisa
1.
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Am J Med Genet A
; : e63590, 2024 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38477541
2.
A Notch-Gli2 axis sustains Hedgehog responsiveness of neural progenitors and Müller glia.
Dev Biol
; 411(1): 85-100, 2016 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26795056
3.
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Am J Med Genet A
; 170A(1): 11-8, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26373900
4.
Identification of novel retinoic acid target genes.
Dev Biol
; 395(2): 199-208, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25251699
5.
Loss of periostin/OSF-2 in ErbB2/Neu-driven tumors results in androgen receptor-positive molecular apocrine-like tumors with reduced Notch1 activity.
Breast Cancer Res
; 17: 7, 2015 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-25592291
6.
Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.
Hum Mol Genet
; 22(5): 1005-16, 2013 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23201751
7.
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
J Med Genet
; 51(7): 470-4, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24706940
8.
Cdx regulates Dll1 in multiple lineages.
Dev Biol
; 361(1): 1-11, 2012 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22015720
9.
A role for prenylated rab acceptor 1 in vertebrate photoreceptor development.
BMC Neurosci
; 13: 152, 2012 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23241222
10.
Identification of Wnt/ß-catenin modulated genes in the developing retina.
Mol Vis
; 18: 645-56, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22509096
11.
Retinoic acid receptor-related orphan receptor alpha regulates a subset of cone genes during mouse retinal development.
J Neurochem
; 108(1): 91-101, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19014374
12.
Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation.
Elife
; 52016 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27823583
13.
Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line.
Sci Rep
; 6: 22867, 2016 03 11.
Artigo
Inglês
| MEDLINE | ID: mdl-26965927
14.
Recruitment of the rod pathway by cones in the absence of rods.
J Neurosci
; 24(34): 7576-82, 2004 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-15329405
15.
GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina.
J Neurosci
; 23(14): 6152-60, 2003 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-12853434
16.
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse.
Invest Ophthalmol Vis Sci
; 46(6): 2156-67, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15914637
17.
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.
Invest Ophthalmol Vis Sci
; 45(9): 3313-9, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15326156
18.
Gene expression profile of native human retinal pigment epithelium.
Invest Ophthalmol Vis Sci
; 43(3): 603-7, 2002 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-11867573
19.
Connexin 36 in photoreceptor cells: studies on transgenic rod-less and cone-less mouse retinas.
Mol Vis
; 10: 323-7, 2004 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-15152186
20.
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Mol Vis
; 9: 14-7, 2003 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-12552256