Results 151 to 160 of about 149,259 (318)

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

open access: yesScientific Reports, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes.
Hamad Ali   +10 more
semanticscholar   +1 more source

Progress on Autosomal Dominant Polycystic Kidney Disease [PDF]

open access: yes, 2010
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common life threatening hereditary disease of the kidney. It is a systemic disease characterized by multiple, bilateral renal cysts that result in massive renal enlargement ...
Elhassan, E, Masoumi, A, Schrier, R
core   +2 more sources

Semi-Parametric Survival Estimation for pedigrees [PDF]

open access: yesarXiv, 2016
Mendelian diseases are determined by a single mutation in a given gene. However, in the case of diseases with late onset, the age at onset is variable; it can even be the case that the onset is not observed in a lifetime. Estimating the survival function of the mutation carriers and the effect of modifying factors such as the sex, mutation, origin, etc,
arxiv  

Surgical cyst decortication in autosomal dominant polycystic kidney disease [PDF]

open access: yes, 2013
PURPOSE: To provide a summary of the relevant literature regarding the impact of surgical cyst decortication on hypertension, renal function, and pain management in patients with autosomal dominant polycystic kidney disease (ADPKD).
Bhayani, Sam B   +5 more
core   +2 more sources

AUTOSOMAL – DOMINANT POLYCYSTIC KIDNEY DISEASE – A GLEAM OF HOPE?

open access: yesУкраїнський Журнал Нефрології та Діалізу, 2014
The review contains information about modern conception ofautosomal–dominant polycystic kidney disease, its genetics, epidemiology, pathogenesis, course, clinical presentation and the results of recent clinical ...
V.V. Doretskyi, Y.V. Doretskyi
doaj   +1 more source

3D Kidneys and Kidney Tumor Semantic Segmentation using Boundary-Aware Networks [PDF]

open access: yesMICCAI Kidney Tumor Segmentation Challenge 2019, 2019
Automated segmentation of kidneys and kidney tumors is an important step in quantifying the tumor's morphometrical details to monitor the progression of the disease and accurately compare decisions regarding the kidney tumor treatment. Manual delineation techniques are often tedious, error-prone and require expert knowledge for creating unambiguous ...
arxiv  

Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease.

open access: yesAmerican Society of Nephrology. Clinical Journal, 2018
Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic cause of ESKD, is characterized by relentless development of kidney cysts, hypertension, and destruction of the kidney parenchyma. Over the past few years, major advancements
F. Chebib, V. Torres
semanticscholar   +1 more source

Defective glycolysis and the use of 2-deoxy-d-glucose in polycystic kidney disease: from animal models to humans [PDF]

open access: yes, 2017
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD ...
Boletta, Alessandra   +1 more
core   +1 more source

Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial

open access: yesJournal of the American Medical Association (JAMA), 2018
Importance Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst formation in both kidneys and loss of renal function, eventually leading to a need for kidney replacement therapy.
E. Meijer   +22 more
semanticscholar   +1 more source

1630 THE NATURAL HISTORY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN [PDF]

open access: bronze, 1985
Aileen B. Sedman   +4 more
openalex   +1 more source

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