Results 91 to 100 of about 43,386 (236)
Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
wiley +1 more source
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative [PDF]
, 2016 BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic inherited kidney disease, affecting an estimated 600 000 individuals in Europe. The disease is characterized by age-dependent development of a multiple cysts in
Budde, Klemens +17 more
core +2 more sources
Scientific Reports, 2017 Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited disorder of the kidneys. It is characterized by enlargement of the kidneys caused by progressive development of renal cysts, and thus assessment of total kidney volume (TKV)
Kanishka Sharma +6 more
semanticscholar +1 more source
Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]
European Medical Journal Nephrology, 2014 Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj
TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]
, 2013 BACKGROUND: Given the large medical burden of polycystic kidney disease (PKD) and recent clinical trial failures, there is a need for novel, safe and effective treatments for the disorder.
Jeffrey Roix, Saurabh Saha
core +2 more sources
Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source
Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion
Oman Medical Journal, 2018 The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez +1 more
doaj +1 more source
The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney [PDF]
, 2012 Polycystic Kidney Disease (PKD) is a genetic condition in which dedifferentiated and highly proliferative epithelial cells form renal cysts and is frequently treated by renal transplantation.
Bertram, John +4 more
core +1 more source
American Society of Nephrology. Clinical Journal, 2019 BACKGROUND AND OBJECTIVES Microvesicles and exosomes are involved in the pathogenesis of autosomal dominant polycystic kidney disease. However, it is unclear whether they also contribute to medullary sponge kidney, a sporadic kidney malformation ...
M. Bruschi +13 more
semanticscholar +1 more source
Recent developments in eosinophilic renal neoplasms: what's new, true and important?
Histopathology, Volume 88, Issue 1, Page 166-192, January 2026.Recent developments and acquired knowledge on newer renal entities with eosinophilic cytoplasm opened insights into the clinical, pathological, immunohistochemical, molecular, epidemiological aspects, and the prognosis of these entities. We emphasize the role of routine morphology, aided by appropriate and select immunohistochemistry, as essential keys
Kiril Trpkov +2 more
wiley +1 more source