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Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
- Published in:
- Clinical Kidney Journal, 2020, v. 13, n. 6, p. 1025, doi. 10.1093/ckj/sfz176
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- Publication type:
- Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 7, p. 1175, doi. 10.1007/s00467-018-3985-4
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- Publication type:
- Article
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 6, p. 971, doi. 10.1007/s00467-013-2486-8
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- Publication type:
- Article
The role of molecular genetics in diagnosing familial hematuria(s)
- Published in:
- 2012
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- Publication type:
- Journal Article
The role of molecular genetics in diagnosing familial hematuria(s).
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 8, p. 1221, doi. 10.1007/s00467-011-1935-5
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- Publication type:
- Article
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
- Published in:
- 2012
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- Publication type:
- Report
Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?
- Published in:
- 2009
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- Publication type:
- Letter
NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome.
- Published in:
- 2008
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- Publication type:
- Letter
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
- Published in:
- 2017
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- Publication type:
- Correction Notice
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162866
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- Publication type:
- Article
Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.
- Published in:
- Journal of Bone & Mineral Research, 1994, v. 9, n. 6, p. 923, doi. 10.1002/jbmr.5650090618
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- Publication type:
- Article
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
- Published in:
- Journal of Genetics, 2014, v. 93, n. 3, p. 859, doi. 10.1007/s12041-014-0450-4
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- Publication type:
- Article
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1.
- Published in:
- Journal of Nephrology (JNonline), 2013, v. 26, n. 4, p. 793, doi. 10.5301/jn.5000249
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- Publication type:
- Article
Correction: cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.
- Published in:
- 2011
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- Publication type:
- Correction notice
Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.
- Published in:
- BMC Nephrology, 2010, v. 11, p. 23, doi. 10.1186/1471-2369-11-23
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- Publication type:
- Article
Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.
- Published in:
- 2008
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- Publication type:
- journal article
Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57<sup>KIP2</sup> and Cdk2.
- Published in:
- BMC Nephrology, 2008, v. 9, p. 1, doi. 10.1186/1471-2369-9-10
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- Publication type:
- Article
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 319, doi. 10.3390/genes15030319
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- Publication type:
- Article
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1686, doi. 10.3390/genes14091686
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- Publication type:
- Article
A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101893
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- Publication type:
- Article
Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 12, p. 2441, doi. 10.1007/s00018-019-03294-z
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- Publication type:
- Article
COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
- Published in:
- 2018
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- Publication type:
- journal article
Circulating IgG Levels in SARS-CoV-2 Convalescent Individuals in Cyprus.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 24, p. 5882, doi. 10.3390/jcm10245882
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- Publication type:
- Article
New miRNA Profiles Accurately Distinguish Renal Cell Carcinomas and Upper Tract Urothelial Carcinomas from the Normal Kidney.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091646
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- Publication type:
- Article
CNVs-microRNAs Interactions Demonstrate Unique Characteristics in the Human Genome. An Interspecies <i>in silico</i> Analysis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081204
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- Publication type:
- Article
Epistatic Role of the <i>MYH9/APOL1</i> Region on Familial Hematuria Genes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057925
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- Publication type:
- Article
A miR-1207-5p Binding Site Polymorphism Abolishes Regulation of HBEGF and Is Associated with Disease Severity in CFHR5 Nephropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031021
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- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
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- Publication type:
- Letter
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06525-9
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- Publication type:
- Article
Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.
- Published in:
- Investigative Genetics, 2016, v. 7, p. 1, doi. 10.1186/s13323-016-0032-8
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
- Published in:
- 2015
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- Publication type:
- journal article
COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis.
- Published in:
- Kidney International, 2015, v. 87, n. 4, p. 859, doi. 10.1038/ki.2015.38
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- Publication type:
- Article
On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'.
- Published in:
- Kidney International, 2013, v. 83, n. 2, p. 331, doi. 10.1038/ki.2012.376
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- Publication type:
- Article
Increased Number of MicroRNA Target Sites in Genes Encoded in CNV Regions. Evidence for an Evolutionary Genomic Interaction.
- Published in:
- Molecular Biology & Evolution, 2011, v. 28, n. 9, p. 2421, doi. 10.1093/molbev/msr078
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- Publication type:
- Article
The Cypriot and Iranian National Mutation Frequency Databases.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9422
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- Publication type:
- Article
Dynamic monitoring of PD‐L1 and Ki67 in circulating tumor cells of metastatic non‐small cell lung cancer patients treated with pembrolizumab.
- Published in:
- Molecular Oncology, 2023, v. 17, n. 5, p. 792, doi. 10.1002/1878-0261.13317
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- Publication type:
- Article
Genome-wide association studies reconstructing chronic kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 3, p. 395, doi. 10.1093/ndt/gfad209
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- Publication type:
- Article
Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 10, p. 1780, doi. 10.1093/ndt/gfz021
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- Publication type:
- Article
FO067 ADTKD-MUC1 IN THE CYPRIOT POPULATION: GENOTYPING, DEEP-PHENOTYPING, BIOMARKER DISCOVERY AND THE SEARCH FOR A ROBUST TREATMENT.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, p. N.PAG, doi. 10.1093/ndt/gfz096.FO067
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- Publication type:
- Article
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 6, p. 916, doi. 10.1093/ndt/gfw095
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- Publication type:
- Article
Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv124, doi. 10.1093/ndt/gfu028
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- Publication type:
- Article
Molecular genetics of familial hematuric diseases.
- Published in:
- Nephrology Dialysis Transplantation, 2013, v. 28, n. 12, p. 2946, doi. 10.1093/ndt/gft253
- By:
- Publication type:
- Article
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic ...
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 9, p. 2721, doi. 10.1093/ndt/gfp158
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- Publication type:
- Article
Risk mapping for better governance in biobanking: the case of biobank.cy.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1397156
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- Publication type:
- Article
Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-123
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- Publication type:
- Article
Cystic Diseases of the Kidney.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2010, v. 134, n. 4, p. 569, doi. 10.5858/134.4.569
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- Publication type:
- Article