Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype

C Dordoni, L Zeni, D Toso, C Mazza… - Clinical Kidney …, 2024 - academic.oup.com
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common
inherited kidney disorder, characterized by development and enlargement of kidney cysts …

Nephronophthisis-associated FBW7 mediates cyst-dependent decline of renal function in ADPKD

MM Patel, V Gerakopoulos, E Petsouki, KA Zimmerman… - bioRxiv, 2024 - biorxiv.org
Nephronophthisis (NPHP) and autosomal dominant Polycystic Kidney Disease (ADPKD) are
two genetically distinct forms of Polycystic Kidney Disease (PKD), yet both diseases present …

[PDF][PDF] Prenatal diagnosis, management, and outcomes of urinary tract anomalies

KS Missling, KS Sullivan, S Araji - researchgate.net
Congenital urinary tract anomalies are one of the more common defects noted on prenatal
ultrasound. There are a variety of anomalies that can occur with a broad spectrum of …

[PDF][PDF] Assessment of Masses in the Right Upper Quadrant using Ultrasound Imaging: A Comprehensive Diagnostic Approach for Clinical Evaluation in Bangladesh

IJ Nawreen, MA Obayda, FF Rahaman, MM Islam… - researchgate.net
Ultrasound serves as a pivotal tool in identifying and assessing masses in the right upper
quadrant (RUQ) of the abdomen, crucial for determining precise organ involvement …