Detalhe da pesquisa
1.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30911870
2.
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Prenat Diagn
; 38(13): 1096-1102, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30303263
3.
Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma.
BMC Ophthalmol
; 14: 52, 2014 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-24739284
4.
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.
Genes (Basel)
; 15(4)2024 Mar 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38674356
5.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38356886
6.
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Genes (Basel)
; 14(8)2023 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37628640
7.
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Genes (Basel)
; 14(8)2023 08 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37628710
8.
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.
Front Aging Neurosci
; 14: 907122, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35754952
9.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-35204558
10.
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
Genes (Basel)
; 13(8)2022 08 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36011409
11.
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.
J Pers Med
; 12(11)2022 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36579599
12.
Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.
Genes (Basel)
; 12(2)2021 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33546406
13.
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.
J Pers Med
; 11(6)2021 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34073306
14.
Age and Sex Modulate SARS-CoV-2 Viral Load Kinetics: A Longitudinal Analysis of 1735 Subjects.
J Pers Med
; 11(9)2021 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34575659
15.
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.
Int J Infect Dis
; 108: 187-189, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33878460
16.
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
Electrophoresis
; 30(11): 2008-11, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19517448
17.
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.
Genes (Basel)
; 10(10)2019 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31614793
18.
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Front Neurol
; 10: 619, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31263448
19.
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis.
J Matern Fetal Neonatal Med
; 27(16): 1656-60, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24298912
20.
Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population.
Arch Ophthalmol
; 127(10): 1368-72, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19822855