Detalhe da pesquisa
1.
Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.
Neuroradiology
; 65(4): 865-870, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580093
2.
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
J Hum Genet
; 62(2): 277-290, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27734839
3.
Pediatric Idiopathic Orbital Inflammation: Clinical Features of 30 Cases.
Ophthalmic Plast Reconstr Surg
; 32(4): 270-4, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27337659
4.
Pediatric keratoconus and iontophoretic corneal crosslinking: refractive and topographic evidence in patients underwent general and topical anesthesia, 18 months of follow-up.
Int Ophthalmol
; 36(4): 585-90, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26704375
5.
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
J Hum Genet
; 60(9): 467-71, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26016411
6.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Cancers (Basel)
; 11(12)2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766501
7.
Ocular features in mucopolysaccharidosis: diagnosis and treatment.
Ital J Pediatr
; 44(Suppl 2): 125, 2018 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442167
8.
Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review.
Semin Ophthalmol
; 33(4): 454-460, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28296517
9.
Propranolol eye drops in patients with corneal neovascularization.
Medicine (Baltimore)
; 97(45): e13002, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407290
10.
Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy.
Eur J Ophthalmol
; 27(6): e179-e183, 2017 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28708224
11.
Transient Esotropia in the Child: Case Report and Review of the Literature.
Case Rep Ophthalmol
; 8(1): 259-264, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559837
12.
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Ophthalmic Genet
; 37(3): 307-13, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849621
13.
Lens opacities in glycogenoses type I and III.
Can J Ophthalmol
; 50(6): 480-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26651310
14.
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Eur J Med Genet
; 58(2): 66-70, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542770
15.
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Gene
; 533(1): 398-402, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24096233
16.
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
Gene
; 537(1): 79-84, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24361966
17.
Epithelium-off corneal collagen cross-linking versus transepithelial cross-linking for pediatric keratoconus.
Cornea
; 32(5): 597-601, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23132450
18.
13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.
Eur J Ophthalmol
; 22(5): 857-60, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505049
19.
Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
J Dermatol Sci
; 81(3): 208-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686029
20.
Surgical approach in a rare case of coloboma-choristoma.
Br J Plast Surg
; 58(5): 732-5, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15925349