نتایج جستجو برای: pkd1
تعداد نتایج: 895 فیلتر نتایج به سال:
Background: Polycystic kidney disease (PKD) has a complex phenotype partly explained by genetic variants related to this disease. Ultrasonography is promising approach for defining clinical signs. This study aimed assess characteristics in cats with Polycystin-1 (PKD1) gene mutations and wild-type cats. Kidney were identified ultrasonography. <ns4:bold...
[2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bil...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disease in the United States, occurring in approximately one in every 400 to 1000 live births.1 ADPKD accounts for approximately 5 to 10% of end-stage renal failure in the United States requiring dialysis and renal transplantation.2 ADPKD is characterized by progressive enlargement of cyst-filled...
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, duplication of PKD1, and a high level of unclassified variants (UCV). Present mutation detection levels are 60 to 70%, and PKD1 and PKD2 UCV have not been systematically classified. This study analyzed the uniquely characterize...
Autosomal dominant polycystic kidney disease (ADPKD) is a progressive genetic syndrome with an incidence of 1:500 in the population, arising from inherited mutations in the genes for polycystic kidney disease 1 (PKD1) or polycystic kidney disease 2 (PKD2). Typical onset is in middle age, with gradual replacement of renal tissue with thousands of fluid-filled cysts, resulting in end-stage renal ...
a. We recommend that the standard methodology for genetic diagnosis of autosomal dominant polycystic kidney disease is polymerase chain reaction (PCR) amplification (including long-range PCR for the first 33 exons of PKD1) followed by Sanger sequencing (1A) or next-generation sequencing where available (1D). b. We suggest that individuals with a clinical diagnosis of autosomal dominant polycyst...
Abstract Background and Aims Renal cystic disease (RCD) includes a spectrum of disorders with heterogenous clinical presentation. Among RCD are autosomal dominant polycystic kidney (ADPKD), recessive (ARPKD), ciliopathies, HNF1B-nephropathy, congenital anomalies the kidneys urinary tract (CAKUT). Diagnosis is based on criteria, yet, given extreme genetic heterogeneity phenotypic overlap among d...
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