| scholarly article | Q13442814 |
| P50 | author | Constantinos Deltas | Q37380500 |
| Konstantinos Voskarides | Q55692582 | ||
| P2093 | author name string | A Pierides | |
| M Hadjigavriel | |||
| M Kkolou | |||
| P2860 | cites work | COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy | Q24297952 |
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| Molecular testing for adult type Alport syndrome | Q30887579 | ||
| Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure | Q33571328 | ||
| Determinants of renal disease variability in ADPKD. | Q33723857 | ||
| Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees | Q35030648 | ||
| Advances in Alport syndrome diagnosis using next-generation sequencing | Q35603690 | ||
| A mutation causing Alport syndrome with tardive hearing loss is common in the western United States | Q35882731 | ||
| The role of molecular genetics in diagnosing familial hematuria(s). | Q36056811 | ||
| Genotype-phenotype correlation in X-linked Alport syndrome | Q40404388 | ||
| Somatic mosaicism associated with a mild Alport syndrome phenotype | Q42844187 | ||
| Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease | Q42927109 | ||
| X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. | Q43457773 | ||
| 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 kidn | Q43856240 | ||
| Thin basement membrane nephropathy: a mutation in COL4A5 gene | Q43859077 | ||
| Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling | Q44053821 | ||
| Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease | Q44082224 | ||
| High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. | Q48002077 | ||
| A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities | Q50459187 | ||
| A family with X-linked benign familial hematuria. | Q54453204 | ||
| Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations | Q56658122 | ||
| Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta | Q59416436 | ||
| Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria | Q80066117 | ||
| Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome | Q80848101 | ||
| P433 | issue | 3 | |
| P921 | main subject | kidney disease | Q1054718 |
| microhematuria | Q1534492 | ||
| P304 | page(s) | 207-213 | |
| P577 | publication date | 2013-07-01 | |
| P1433 | published in | Hippokratia | Q26842167 |
| P1476 | title | X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure | |
| P478 | volume | 17 |
| Q91939040 | A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State |
| Q60044370 | Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report |
| Q92131556 | An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review |
| Q35952630 | Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease |
| Q34712797 | Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing |
| Q47908601 | Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome |
| Q92392509 | Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome |
| Q38916205 | Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy |
| Q61807964 | Identification of a Novel Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS) |
| Q47094474 | RNA-seq of serial kidney biopsies obtained during progression of chronic kidney disease from dogs with X-linked hereditary nephropathy. |
| Q92074426 | The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome |
| Q36132825 | X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations |
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