Detalhe da pesquisa
1.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 147(6): 2085-2097, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
2.
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Am J Med Genet C Semin Med Genet
; 184(3): 644-655, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888375
3.
Chlamydia Conjunctivitis in 2 Prepubertal Children: An Uncommon Presentation of Child Sexual Abuse.
Pediatr Emerg Care
; 36(8): e473-e475, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509650
4.
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
Pediatr Diabetes
; 17(7): 535-539, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530398
5.
Panuveitis and optic neuropathy following SARS-COV-2 in the absence of multisystem inflammatory syndrome in a child.
Am J Ophthalmol Case Rep
; 32: 101876, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425218
6.
Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.
Front Med (Lausanne)
; 10: 1281068, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38020097
7.
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Ophthalmic Genet
; 44(1): 89-92, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426739
8.
Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.
J AAPOS
; 27(4): 208-211, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321343
9.
Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease.
Ophthalmic Surg Lasers Imaging Retina
; 53(8): 464-467, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951720
10.
Alternative Biologic Therapy in Children Failing Conventional TNFα Inhibitors for Refractory, Noninfectious, Chronic Anterior Uveitis.
Am J Ophthalmol
; 244: 183-195, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35863492
11.
Effectiveness of long-term infliximab use and impact of treatment adherence on disease control in refractory, non-infectious pediatric uveitis.
Pediatr Rheumatol Online J
; 17(1): 79, 2019 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783768
12.
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.
J AAPOS
; 23(4): 226-228.e1, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31233830
13.
Therapeutic potential of JAK inhibitors in juvenile idiopathic arthritis-associated uveitis.
Expert Rev Clin Immunol
; 19(7): 689-692, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114341
14.
Gene therapy for RPE65-related retinal disease.
Ophthalmic Genet
; 39(6): 671-677, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335549
15.
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
JAMA Ophthalmol
; 136(4): 389-398, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29522070
16.
Nature versus nurture: A systematic approach to elucidate gene-environment interactions in the development of myopic refractive errors.
Ophthalmic Genet
; 38(2): 117-121, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27232389
17.
Pharmacological approaches to restoring lens transparency: Real world applications.
Ophthalmic Genet
; 38(3): 201-205, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648776
18.
Allergic eye disease.
Pediatr Clin North Am
; 61(3): 607-20, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24852156
19.
Surgical management of lens subluxation in Marfan syndrome.
J AAPOS
; 18(2): 140-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698610
20.
Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.
Br J Ophthalmol
; 98(4): 513-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24457364