Detalles de la búsqueda
1.
DEXAMETHASONE IMPLANT VERSUS TOPICAL CARBONIC ANHYDRASE INHIBITORS IN PATIENTS WITH BILATERAL RETINITIS PIGMENTOSA-RELATED CYSTOID MACULAR EDEMA: A Prospective, Paired-Eye Pilot Study.
Retina
; 44(5): 852-860, 2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38166238
2.
Genotypic and phenotypic characterization of a cohort of patients affected by rod CNG channel-associated retinitis pigmentosa.
Ophthalmic Res
; 2024 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38705136
3.
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
Medicina (Kaunas)
; 60(2)2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38399542
4.
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Int J Mol Sci
; 24(8)2023 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37108593
5.
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Ophthalmic Res
; 65(2): 180-195, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34781295
6.
Resistance to Thyroid Hormones: A Case-Series Study.
Int J Mol Sci
; 23(19)2022 Sep 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36232568
7.
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.
Int J Mol Sci
; 23(13)2022 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35806420
8.
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Eat Weight Disord
; 27(5): 1869-1880, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34822136
9.
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Int J Mol Sci
; 22(8)2021 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-33919796
10.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Int J Mol Sci
; 22(19)2021 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34639157
11.
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34445325
12.
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
Hum Mol Genet
; 27(24): 4204-4217, 2018 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30184081
13.
A very early diagnosis of AlstrÓ§m syndrome by next generation sequencing.
BMC Med Genet
; 21(1): 173, 2020 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32867697
14.
FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.
Int J Mol Sci
; 21(14)2020 Jul 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-32698337
15.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Int J Mol Sci
; 22(1)2020 Dec 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33396523
16.
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.
Int J Mol Sci
; 21(17)2020 Aug 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-32872468
17.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
J Transl Med
; 17(1): 330, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31570112
18.
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.
Am J Med Genet A
; 179(9): 1718-1724, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31215153
19.
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study.
BMC Ophthalmol
; 18(1): 153, 2018 Jun 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29940899
20.
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
Ophthalmic Res
; 60(3): 169-175, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30078014