| Nome |
# |
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Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance, file de3e52b1-acc6-762d-e053-3705fe0a30e0
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51
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miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions, file de3e52b1-3323-762d-e053-3705fe0a30e0
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38
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CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study., file de3e52b0-639b-762d-e053-3705fe0a30e0
|
37
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Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing?, file de3e52b3-ce0e-762d-e053-3705fe0a30e0
|
35
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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?, file de3e52b1-3a1b-762d-e053-3705fe0a30e0
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32
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Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations, file de3e52b0-ad20-762d-e053-3705fe0a30e0
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25
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Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study, file de3e52b0-fc5f-762d-e053-3705fe0a30e0
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23
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miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions, file de3e52b1-afa6-762d-e053-3705fe0a30e0
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21
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High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations, file de3e52b2-6a8b-762d-e053-3705fe0a30e0
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20
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Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?, file de3e52ae-df0b-762d-e053-3705fe0a30e0
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19
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Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations, file de3e52b4-d181-762d-e053-3705fe0a30e0
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17
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Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations, file de3e52af-f3ea-762d-e053-3705fe0a30e0
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16
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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, file de3e52b0-bb90-762d-e053-3705fe0a30e0
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15
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Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations, file de3e52b1-c53c-762d-e053-3705fe0a30e0
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14
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Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation, file de3e52ae-c3eb-762d-e053-3705fe0a30e0
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13
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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens, file de3e52b1-05f7-762d-e053-3705fe0a30e0
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13
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Gut-Brain Axis Cross-Talk and Limbic Disorders as BiologicalBasis of Secondary TMAU, file de3e52b4-e146-762d-e053-3705fe0a30e0
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12
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GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population, file de3e52b1-ac82-762d-e053-3705fe0a30e0
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11
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Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype, file de3e52b2-a174-762d-e053-3705fe0a30e0
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11
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Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations, file 434ed9b9-77cc-4253-ac4d-fff70f8aab18
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10
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First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation, file de3e52b0-9e3f-762d-e053-3705fe0a30e0
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10
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Down-expression of RHO gene in Egyptian patient with three regulative region variants could lead to retinitis punctata albescens phenotype, file de3e52b2-a175-762d-e053-3705fe0a30e0
|
10
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CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study., file de3e52ae-d132-762d-e053-3705fe0a30e0
|
9
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FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor, file de3e52ae-e511-762d-e053-3705fe0a30e0
|
9
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The microtubule-associated molecular pathways may be genetically disrupted in patients with Bipolar Disorder. Insights from the molecular cascades, file de3e52b0-c34c-762d-e053-3705fe0a30e0
|
8
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Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis, file de3e52b1-b0eb-762d-e053-3705fe0a30e0
|
8
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Ageing, hormonal behaviour and cyclin D1 in ductal breast carcinomas, file de3e52ae-bb2f-762d-e053-3705fe0a30e0
|
7
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null, file de3e52b2-cf07-762d-e053-3705fe0a30e0
|
6
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Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms in Italian patients with sporadic cerebral cavernous malformations: a pilot study, file de3e52b3-3687-762d-e053-3705fe0a30e0
|
6
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Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells, file de3e52b3-ad36-762d-e053-3705fe0a30e0
|
6
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PON I and GLO I Gene Polymorphisms and Their Association with Breast Cancer: A Case-Control Study in a Population from Southern Italy, file de3e52af-06b5-762d-e053-3705fe0a30e0
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5
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The serotonin transporter and the activity regulated cytoskeleton-associated protein genes in antidepressant response and resistance: 5-HTTLPR and other variants, file de3e52b1-c942-762d-e053-3705fe0a30e0
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5
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Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis, file de3e52b3-4a01-762d-e053-3705fe0a30e0
|
5
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The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter
Causes Gilbert's Syndrome, file de3e52b3-97af-762d-e053-3705fe0a30e0
|
5
|
|
null, file de3e52ae-b54f-762d-e053-3705fe0a30e0
|
4
|
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null, file de3e52ae-bb2e-762d-e053-3705fe0a30e0
|
4
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Glyoxalase I A111E, paraoxonase 1 q192R and L55M polymorphisms: susceptibility factors of multiple sclerosis?, file de3e52ae-bc0b-762d-e053-3705fe0a30e0
|
4
|
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Age dependent switching role of ciclyn D1 in breast cancer, file de3e52ae-d224-762d-e053-3705fe0a30e0
|
4
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Fish odor syndrome (trimethylaminuria) supporting
the possible FMO3 down expression in childhood:
a case report, file de3e52ae-ee7d-762d-e053-3705fe0a30e0
|
4
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Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients, file de3e52ae-faca-762d-e053-3705fe0a30e0
|
4
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Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to
TMAU Phenotypes, file de3e52b4-dfde-762d-e053-3705fe0a30e0
|
4
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FMO3 allelic variants in a Mediterranean population frequency and linkage analysis., file de3e52ae-da8b-762d-e053-3705fe0a30e0
|
3
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Two non-homologous co-regulated genes PDCD10 and SERPINI1: any possible related function?, file de3e52af-08b0-762d-e053-3705fe0a30e0
|
3
|
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Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis, file de3e52b2-974a-762d-e053-3705fe0a30e0
|
3
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N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells, file de3e52b4-c454-762d-e053-3705fe0a30e0
|
3
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Distribution and localization of vinculin-talin-integrin system and dystrophin-glycoprotein complex in human skeletal muscle - Immunohistochemical study using confocal laser scanning microscopy, file de3e52ae-bf4c-762d-e053-3705fe0a30e0
|
2
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null, file de3e52ae-ca3b-762d-e053-3705fe0a30e0
|
2
|
|
FMO3 allelic variants in Sicily and Sardinia islands population frequency and linkage analysis., file de3e52ae-da8c-762d-e053-3705fe0a30e0
|
2
|
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NOVEL PDCD10 PROMOTER VARIANTS IN PATIENTS WITH CEREBRAL CAVERNOUSMALFORMATIONS, file de3e52ae-df17-762d-e053-3705fe0a30e0
|
2
|
|
null, file de3e52b0-cd32-762d-e053-3705fe0a30e0
|
2
|
|
null, file de3e52b1-4a92-762d-e053-3705fe0a30e0
|
2
|
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Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations, file de3e52b3-6674-762d-e053-3705fe0a30e0
|
2
|
|
New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier
of Pathological Phenotype?, file de3e52b4-059f-762d-e053-3705fe0a30e0
|
2
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Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells, file de3e52b4-0610-762d-e053-3705fe0a30e0
|
2
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Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin, file de3e52b4-b8d2-762d-e053-3705fe0a30e0
|
2
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Advances in Bioinformatics, Biostatistics and Omic Sciences, file de3e52b4-cc26-762d-e053-3705fe0a30e0
|
2
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Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling, file de3e52b4-cebe-762d-e053-3705fe0a30e0
|
2
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Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline, file de3e52b5-1859-762d-e053-3705fe0a30e0
|
2
|
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Amplification of protease-activated receptors signaling in sporadic cerebral
cavernous malformation endothelial cells, file a4316ffd-89d6-45b3-9520-815edc283c8e
|
1
|
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Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis, file b2a7b645-8654-49fe-9580-96d9b165707f
|
1
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NOVEL GENES INVOLVED IN ETIOPATHOGENESIS OF RETINITIS PIGMENTOSA ORPHANFORMS, file bb12dcd5-12e3-4e44-ae3f-7e1004730f97
|
1
|
|
Epitranscriptome Analysis of Oxidative Stressed Retinal
Epithelial Cells Depicted a Possible RNA Editing Landscape of
Retinal Degeneration, file dc7ef7b9-cb3f-40b6-93ee-80051ab30d02
|
1
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Sarcoglycan subcomplex in normal human smooth muscle: An immunohistochemical and molecular study, file de3e52ae-b20e-762d-e053-3705fe0a30e0
|
1
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Possible influence of CREB1, CREBBP and CREM variants on diagnosis and treatment outcome in patients with schizophrenia, file de3e52ae-cea4-762d-e053-3705fe0a30e0
|
1
|
|
null, file de3e52ae-dabf-762d-e053-3705fe0a30e0
|
1
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|
Case-control association study of 36 single-nucleotide polymorphisms within 10 candidate genes for major depression and bipolar disorder, file de3e52ae-e8f4-762d-e053-3705fe0a30e0
|
1
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Regulation of flavin-containing mono-oxygenase (Fmo3) gene expression by steroids in mice and humans, file de3e52af-06b4-762d-e053-3705fe0a30e0
|
1
|
|
Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies, file de3e52b3-01ad-762d-e053-3705fe0a30e0
|
1
|
|
Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa, file de3e52b3-01af-762d-e053-3705fe0a30e0
|
1
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Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa, file de3e52b3-0f4a-762d-e053-3705fe0a30e0
|
1
|
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Association between three polymorphisms in RP1 hotspot region and risk of retinitis pigmentosa in Italian patients: A pilot study, file de3e52b3-2463-762d-e053-3705fe0a30e0
|
1
|
|
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, file de3e52b4-e2a5-762d-e053-3705fe0a30e0
|
1
|
|
Oxidative Stress and the Neurovascular Unit, file de3e52b4-ff8b-762d-e053-3705fe0a30e0
|
1
|
|
VARIANTS OF THE MOLECULAR CHAPERONE HSPA8 AND HSPA1A GENES IN
TRIMETHYLAMINURIA: A PILOT STUDY, file de3e52b5-1ad9-762d-e053-3705fe0a30e0
|
1
|
| Totale |
614 |