Detalles de la búsqueda
1.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38041579
2.
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
Electrophoresis
; 44(19-20): 1588-1594, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37565369
3.
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson's Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples.
Int J Mol Sci
; 23(5)2022 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35269707
4.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Hum Mol Genet
; 28(23): 3912-3920, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600781
5.
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes.
J Cell Mol Med
; 24(23): 13554-13563, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33128843
6.
RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.
Int J Mol Sci
; 21(8)2020 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32326527
7.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30911870
8.
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A.
Int J Mol Sci
; 20(7)2019 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30934838
9.
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.
Hum Genomics
; 10: 9, 2016 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27044517
10.
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
Electrophoresis
; 37(5-6): 860-4, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26681637
11.
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.
Genes (Basel)
; 15(4)2024 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38674356
12.
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
Front Genet
; 14: 1235589, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37674478
13.
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.
Cells
; 11(17)2022 08 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36078093
14.
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.
J Pers Med
; 12(7)2022 Jun 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35887531
15.
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.
Cells
; 11(24)2022 12 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36552879
16.
Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.
Front Aging Neurosci
; 14: 821789, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35250545
17.
Tracking the Initial Diffusion of SARS-CoV-2 Omicron Variant in Italy by RT-PCR and Comparison with Alpha and Delta Variants Spreading.
Diagnostics (Basel)
; 12(2)2022 Feb 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35204558
18.
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
Genes (Basel)
; 13(8)2022 08 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36011409
19.
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.
J Pers Med
; 12(11)2022 Nov 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36579599
20.
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis.
Front Genet
; 12: 784996, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34925464