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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0114-6
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- Publication type:
- Article
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis.
- Published in:
- 2019
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- Publication type:
- journal article
Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 87, doi. 10.3390/jpm11020087
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- Publication type:
- Article
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00953
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- Publication type:
- Article
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.
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- Journal of Digestive Diseases, 2016, v. 17, n. 9, p. 628, doi. 10.1111/1751-2980.12373
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- Publication type:
- Article
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3484, doi. 10.3390/ijms22073484
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- Publication type:
- Article
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 70, doi. 10.3390/ijms22010070
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- Publication type:
- Article
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4321, doi. 10.3390/ijms21124321
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- Publication type:
- Article
ASSOCIATION BETWEEN THREE POLYMORPHISMS IN RP1 HOTSPOT REGION AND RISK OF RETINITIS PIGMENTOSA IN ITALIAN PATIENTS: A PILOT STUDY.
- Published in:
- Euromediterranean Biomedical Journal, 2019, v. 14, p. 130, doi. 10.3269/1970-5492.2019.14.30
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- Publication type:
- Article
Oxidative Stress and the Neurovascular Unit.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 8, p. 767, doi. 10.3390/life11080767
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- Publication type:
- Article
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.
- Published in:
- 2014
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- Publication type:
- journal article
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0332-0
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- Publication type:
- Article
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
- Published in:
- Journal of Molecular Neuroscience, 2017, v. 61, n. 2, p. 189, doi. 10.1007/s12031-016-0863-z
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- Publication type:
- Article
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.
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- Journal of Molecular Neuroscience, 2015, v. 57, n. 3, p. 400, doi. 10.1007/s12031-015-0606-6
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- Publication type:
- Article
The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome.
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- Annals of Clinical & Laboratory Science, 2015, v. 45, n. 2, p. 202
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- Publication type:
- Article
GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case-control study in a Sicilian population.
- Published in:
- Molecular Biology Reports, 2018, v. 45, n. 5, p. 1349, doi. 10.1007/s11033-018-4295-4
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- Publication type:
- Article
Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.
- Published in:
- Molecules, 2021, v. 26, n. 22, p. 7045, doi. 10.3390/molecules26227045
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- Publication type:
- Article
Retraction Note: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin.
- Published in:
- Journal of Clinical Pharmacy & Therapeutics, 2021, v. 46, n. 2, p. 304, doi. 10.1111/jcpt.13315
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- Publication type:
- Article
High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00146
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- Publication type:
- Article
Age dependent switching role of cyclin D1 in breast cancer.
- Published in:
- Analytical Cellular Pathology: Cellular Oncology, 2012, v. 35, n. 3, p. 179, doi. 10.1155/2012/820906
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- Publication type:
- Article
Regulation of flavin-containing mono-oxygenase ( Fmo3) gene expression by steroids in mice and humans.
- Published in:
- Hormone Molecular Biology & Clinical Investigation, 2014, v. 20, n. 3, p. 99, doi. 10.1515/hmbci-2014-0012
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- Publication type:
- Article
Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation.
- Published in:
- Brain Pathology, 2011, v. 21, n. 2, p. 215, doi. 10.1111/j.1750-3639.2010.00441.x
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- Publication type:
- Article
Efficacy of an experimental gaseous ozone-based sterilization method for clear aligners.
- Published in:
- Angle Orthodontist, 2024, v. 94, n. 2, p. 194, doi. 10.2319/061623-421.1
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- Publication type:
- Article
Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration.
- Published in:
- Antioxidants, 2022, v. 11, n. 10, p. N.PAG, doi. 10.3390/antiox11101967
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- Publication type:
- Article
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline.
- Published in:
- Antioxidants, 2020, v. 9, n. 11, p. 1158, doi. 10.3390/antiox9111158
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- Publication type:
- Article
Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells.
- Published in:
- Antioxidants, 2020, v. 9, n. 11, p. 1154, doi. 10.3390/antiox9111154
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- Publication type:
- Article
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa.
- Published in:
- Antioxidants, 2020, v. 9, n. 5, p. 416, doi. 10.3390/antiox9050416
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- Publication type:
- Article
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa.
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- Antioxidants, 2020, v. 9, n. 4, p. 318, doi. 10.3390/antiox9040318
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- Publication type:
- Article
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies.
- Published in:
- Antioxidants, 2020, v. 9, n. 4, p. 307, doi. 10.3390/antiox9040307
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- Publication type:
- Article
New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies.
- Published in:
- Neural Computing & Applications, 2021, v. 33, n. 22, p. 15669, doi. 10.1007/s00521-021-06188-z
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- Publication type:
- Article
Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini's Disease and Retinal Dystrophies.
- Published in:
- Biomedicines, 2023, v. 11, n. 12, p. 3258, doi. 10.3390/biomedicines11123258
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- Publication type:
- Article
How Many Alzheimer–Perusini's Atypical Forms Do We Still Have to Discover?
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- Biomedicines, 2023, v. 11, n. 7, p. 2035, doi. 10.3390/biomedicines11072035
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- Publication type:
- Article
Costameric proteins in human skeletal muscle during muscular inactivity.
- Published in:
- Journal of Anatomy, 2008, v. 213, n. 3, p. 284, doi. 10.1111/j.1469-7580.2008.00921.x
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- Publication type:
- Article
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278857
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- Publication type:
- Article
Impaired Nuclear and Mitochondrial Cross-Talk Might Alter mtDNA Epigenetic Regulation in Maternally Inherited Diabetes- and Deafness-Affected Patients †.
- Published in:
- Biology & Life Sciences Forum, 2023, v. 21, n. 1, p. 26, doi. 10.3390/blsf2023021026
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- Publication type:
- Article
Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35086-z
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- Publication type:
- Article
Corrigendum to: miRNA expression profile of retinal pigment epithelial cells under oxidative stress conditions.
- Published in:
- 2018
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- Publication type:
- Correction Notice
miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions.
- Published in:
- FEBS Open Bio, 2018, v. 8, n. 2, p. 219, doi. 10.1002/2211-5463.12360
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- Publication type:
- Article
Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations.
- Published in:
- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2021, v. 94, n. 2, p. 1, doi. 10.4081/jbr.2021.9838
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- Publication type:
- Article
BEHAVIOURAL AND METABOLIC IMPLICATIONS IN TRIMETHYLAMINURIA: THE DUAL ROLE OF GUT MICROBIOTA.
- Published in:
- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2021, v. 94, p. 55
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- Publication type:
- Article
MUTATED ION CHANNELS-ENCODING GENES COULD IMPAIR RETINAL NEUROTRANSMISSION: NEW INSIGHTS ON RETINAL DEGENERATIONS.
- Published in:
- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2021, v. 94, p. 21
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- Publication type:
- Article
MUTATIONS AT IMPRINTED LOCI AS MOLECULAR MECHANISM IN PEDIATRIC BRAIN ARTERIOVENOUS MALFORMATIONS.
- Published in:
- Journal of Biological Research / Bollettino della Società Italiana di Biologia Sperimentale, 2021, v. 94, p. 26
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- Publication type:
- Article
Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations.
- Published in:
- Neural Regeneration Research, 2022, v. 17, n. 1, p. 101, doi. 10.4103/1673-5374.314296
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- Publication type:
- Article
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.
- Published in:
- International Journal of Molecular Medicine, 2017, v. 39, n. 4, p. 1011, doi. 10.3892/ijmm.2017.2917
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- Publication type:
- Article
The serotonin transporter and the activity regulated cytoskeleton‐associated protein genes in antidepressant response and resistance: 5‐HTTLPR and other variants.
- Published in:
- Human Psychopharmacology: Clinical & Experimental, 2018, v. 33, n. 6, p. N.PAG, doi. 10.1002/hup.2682
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- Publication type:
- Article
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients.
- Published in:
- 2013
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- Publication type:
- Journal Article
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/459253
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- Publication type:
- Article