Detalhe da pesquisa
1.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
2.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
; 59(3): 294-304, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495304
3.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
4.
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Am J Med Genet A
; 182(3): 493-497, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022389
5.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Hum Mol Genet
; 21(16): 3681-94, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22645276
6.
Myelin regulatory factor ( Myrf ) is a critical early regulator of retinal pigment epithelial development.
bioRxiv
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746430
7.
Pushing the envelope of retinal ganglion cell genesis: context dependent function of Math5 (Atoh7).
Dev Biol
; 368(2): 214-30, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22609278
8.
Math5 defines the ganglion cell competence state in a subpopulation of retinal progenitor cells exiting the cell cycle.
Dev Biol
; 365(2): 395-413, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22445509
9.
Dynamic expression of ganglion cell markers in retinal progenitors during the terminal cell cycle.
Mol Cell Neurosci
; 50(2): 160-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22579728
10.
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Genes (Basel)
; 14(4)2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107689
11.
Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980998
12.
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.
Genes (Basel)
; 14(5)2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239394
13.
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Br J Ophthalmol
; 107(10): 1554-1559, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760456
14.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
bioRxiv
; 2023 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37333224
15.
The repeat-in-toxin family member TosA mediates adherence of uropathogenic Escherichia coli and survival during bacteremia.
Infect Immun
; 80(2): 493-505, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083710
16.
Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.
J Ophthalmol
; 2021: 6691291, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258050
17.
Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
Genes (Basel)
; 12(9)2021 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573386
18.
Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort.
J Ophthalmol
; 2020: 5082706, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33083048
19.
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Sci Rep
; 10(1): 19986, 2020 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203948
20.
Nanophthalmos: A Review of the Clinical Spectrum and Genetics.
J Ophthalmol
; 2018: 2735465, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29862063