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D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 24, p. 4114, doi. 10.3390/cells11244114
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- Publication type:
- Article
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.
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- Cells (2073-4409), 2022, v. 11, n. 17, p. 2687, doi. 10.3390/cells11172687
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
- Published in:
- Neurogenetics, 2019, v. 20, n. 2, p. 57, doi. 10.1007/s10048-019-00575-4
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- Publication type:
- Article
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
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- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1235589
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- Publication type:
- Article
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson's Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2557, doi. 10.3390/ijms23052557
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- Publication type:
- Article
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.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2740, doi. 10.3390/ijms21082740
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- Publication type:
- Article
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 7, p. 1578, doi. 10.3390/ijms20071578
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- Publication type:
- Article
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00619
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- Publication type:
- Article
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.
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- Genes, 2024, v. 15, n. 4, p. 421, doi. 10.3390/genes15040421
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- Publication type:
- Article
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B , CYP1A2 and MTHFR.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1498, doi. 10.3390/genes13081498
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- Publication type:
- Article
Pharmacogenomics: An Update on Biologics and Small-Molecule Drugs in the Treatment of Psoriasis.
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- Genes, 2021, v. 12, n. 9, p. 1398, doi. 10.3390/genes12091398
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- Publication type:
- Article
Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 221, doi. 10.3390/genes12020221
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- Publication type:
- Article
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications.
- Published in:
- Genes, 2020, v. 11, n. 7, p. 741, doi. 10.3390/genes11070741
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- Publication type:
- Article
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 792, doi. 10.3390/genes10100792
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- Publication type:
- Article
Age-Related Macular Degeneration: Insights into Inflammatory Genes.
- Published in:
- 2014
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- Publication type:
- Journal Article
Age-Related Macular Degeneration: Insights into Inflammatory Genes.
- Published in:
- Journal of Ophthalmology, 2014, p. 1, doi. 10.1155/2014/582842
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- Publication type:
- Article
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.651971
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- Publication type:
- Article
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
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- Publication type:
- Article
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
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- Electrophoresis, 2016, v. 37, n. 5/6, p. 860, doi. 10.1002/elps.201500346
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- Publication type:
- Article
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/3457898
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- Publication type:
- Article
Tracking the Initial Diffusion of SARS-CoV-2 Omicron Variant in Italy by RT-PCR and Comparison with Alpha and Delta Variants Spreading.
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- Diagnostics (2075-4418), 2022, v. 12, n. 2, p. 467, doi. 10.3390/diagnostics12020467
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- Publication type:
- Article
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
- Published in:
- Electrophoresis, 2023, v. 44, n. 19/20, p. 1588, doi. 10.1002/elps.202300058
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- Publication type:
- Article
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.784996
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- Publication type:
- Article
Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.821789
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- Publication type:
- Article
Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets.
- Published in:
- European Journal of Ophthalmology, 2021, v. 31, n. 6, p. 2856, doi. 10.1177/11206721211028054
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- Publication type:
- Article
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.01027
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- Publication type:
- Article
Application of Precision Medicine in Neurodegenerative Diseases.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00701
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- Publication type:
- Article
Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders.
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- Life (2075-1729), 2020, v. 10, n. 12, p. 351, doi. 10.3390/life10120351
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- Publication type:
- Article
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.
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- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1851, doi. 10.3390/jpm12111851
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- Publication type:
- Article
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1034, doi. 10.3390/jpm12071034
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- Publication type:
- Article
Age and Sex Modulate SARS-CoV-2 Viral Load Kinetics: A Longitudinal Analysis of 1735 Subjects.
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- Journal of Personalized Medicine, 2021, v. 11, n. 9, p. 882, doi. 10.3390/jpm11090882
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- Publication type:
- Article
Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders.
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- Journal of Personalized Medicine, 2021, v. 11, n. 9, p. 851, doi. 10.3390/jpm11090851
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- Publication type:
- Article
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.
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- Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 474, doi. 10.3390/jpm11060474
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- Publication type:
- Article
Multi-Layer Picture of Neurodegenerative Diseases: Lessons from the Use of Big Data through Artificial Intelligence.
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- Journal of Personalized Medicine, 2021, v. 11, n. 4, p. 280, doi. 10.3390/jpm11040280
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- Publication type:
- Article
Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations.
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- Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 213, doi. 10.3390/jpm11030213
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- Publication type:
- Article
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3912, doi. 10.1093/hmg/ddz239
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- Publication type:
- Article
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes.
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- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 23, p. 13554, doi. 10.1111/jcmm.15742
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- Publication type:
- Article
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 24, p. 13554, doi. 10.1111/jcmm.15742
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- Publication type:
- Article
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.
- Published in:
- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0066-2
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- Publication type:
- Article
The Genetics and the Genomics of Primary Congenital Glaucoma.
- Published in:
- 2015
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- Publication type:
- journal article
Case Report: Sars-CoV-2 Infection in a Vaccinated Individual: Evaluation of the Immunological Profile and Virus Transmission Risk.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.708820
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- Publication type:
- Article
Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.626066
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- Publication type:
- Article