Results 181 to 190 of about 98,685 (336)

Adult polycystic kidney disease: Studies of the defect in urine concentration

, 1972
Manuel Martínez–Maldonado, Jackson Joe Yium, Garabed Eknoyan, Wadi N. Suki   +3 more
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Focal Spot, Spring 2001 [PDF]

, 2001
https://digitalcommons.wustl.edu/focal_spot_archives/1087/thumbnail ...

core   +1 more source

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. [PDF]

, 1990
Sushil Kumar, William J. Kimberling, Patricia A. Gabow, Yin Yao Shugart, Sandra Pieke-Dahl   +4 more
openalex   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Polycystic Disease of the Kidneys [PDF]

Postgraduate Medical Journal, 1953
openaire   +3 more sources

A Case Study of Liver After Kidney Transplantation: Addressing Polycystic Diseases With Tailored Surgical and Postoperative Approaches

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Polycystic liver disease is a hereditary disease, which is characterized by the presence of multiple cysts within the liver. In this case, we report a patient with multiple cysts in the kidneys and liver, who underwent kidney transplantation in 2019 and then liver transplantation 4 years later.
Chengjun Sun, Yang Du, Ming Han, Shaojun Shi, Linwei Wu   +4 more
wiley   +1 more source

A CNN Approach to Polygenic Risk Prediction of Kidney Stone Formation [PDF]

arXiv
Kidney stones are a common and debilitating health issue, and genetic factors play a crucial role in determining susceptibility. While Genome-Wide Association Studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) linked to kidney stone risk, translating these findings into effective clinical tools remains a challenge.
arxiv  

A Rare Diagnosis of Caroli Syndrome in a Young Patient

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian   +4 more
wiley   +1 more source

Calcified Renal Stones and Cyst Calcifications in Autosomal Dominant Polycystic Kidney Disease: Clinical and CT Study in 84 Patients [PDF]

, 1992

openalex   +1 more source