Detalhe da pesquisa
1.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469
2.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Ophthalmology
; 124(7): 985-991, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341476
3.
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 23(10): 2023, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353976
4.
Tuberculous Orbital Apex Syndrome with Severe Irreversible Visual Loss.
Orbit
; 34(3): 172-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25879778
5.
Blepharokeratoconjunctivitis in Cockayne syndrome.
J Pediatr Ophthalmol Strabismus
; 46(3): 184-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19496505
6.
Presumed early-onset sarcoidosis: a case of devastating ocular inflammation in an infant.
J Pediatr Ophthalmol Strabismus
; 46(4): 245-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19645408
7.
Clinical and genetic variability in children with partial albinism.
Sci Rep
; 9(1): 16576, 2019 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719542
8.
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Invest Ophthalmol Vis Sci
; 58(1): 594-603, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129423
9.
Mucopolysaccharidoses and the eye.
Surv Ophthalmol
; 51(1): 1-17, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16414358
10.
Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.
Asia Pac J Ophthalmol (Phila)
; 4(6): 357-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26716432
11.
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Invest Ophthalmol Vis Sci
; 56(2): 883-91, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574057
12.
Duration of form deprivation and visual outcome in infants with bilateral congenital cataracts.
J AAPOS
; 14(1): 31-4, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227619
13.
De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.
Clin Dysmorphol
; 19(2): 73-75, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177379
14.
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.
Br J Ophthalmol
; 94(3): 386-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20215382