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[HTML][HTML] Alport syndrome classification and management
Alport syndrome affects up to 60,000 people in the United States. The proposed
reclassification of thin basement membrane nephropathy and some cases of focal …
reclassification of thin basement membrane nephropathy and some cases of focal …
[HTML][HTML] Alport syndrome and Alport kidney diseases–elucidating the disease spectrum
The concept of Alport kidney disease extends beyond classic AS. Patients carrying
pathogenic variants in any one of the COL4A3/A4/A5 genes can have variable phenotypes …
pathogenic variants in any one of the COL4A3/A4/A5 genes can have variable phenotypes …
Guidelines for genetic testing and management of Alport syndrome
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
Background Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or
steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion …
steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion …
[HTML][HTML] Clinical and genetic features of autosomal dominant Alport syndrome: a cohort study
Rationale & Objective Alport syndrome is a common genetic kidney disease accounting for
approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by …
approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by …
Integration of genetic testing and pathology for the diagnosis of adults with FSGS
Results The cohort was composed of 193 individuals from 179 families. Nearly half (49%)
developed ESKD at a mean age of 47±17 years. The genetic diagnostic rate was 11%. Of …
developed ESKD at a mean age of 47±17 years. The genetic diagnostic rate was 11%. Of …
Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport syndrome
Results The median renal survival time was 70 years, and the median age at first detection
of proteinuria was 17 years old. There was one patient with hearing loss and one patient …
of proteinuria was 17 years old. There was one patient with hearing loss and one patient …
Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane
The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …