Results 191 to 200 of about 1,639,589 (408)

Contemporary Perspectives on Chronic Renal Disorders

Chronic Diseases and Translational Medicine, EarlyView.
ABSTRACT The prevalence of renal diseases and its associated burden on healthcare have tremendously risen in the past few years. From simple markers assessing kidney function, current renal research delves into understanding the diseases at the cellular and molecular levels and not just at treating, but at improving quality of life, arresting ...
Deenadhayalan Ashok, Poornima Ajay Manjrekar, Bhushan C. Shetty, Sujina S. S, Rukmini Mysore Srikantiah, Sowndarya Kollampare   +5 more
wiley   +1 more source

Homozygosity for autosomal dominant Marfan syndrome. [PDF]

, 1984
Juan Chemke, R Nisani, Ami Feigl, R Garty, Marianne J Cooper, Yoseph Barash, Dan Duksin   +6 more
openalex   +1 more source

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer disease: a longitudinal study

Lancet Neurology, 2018
B. Gordon, Tyler M. Blazey, Yi Su, Amrita Hari-Raj, Aylin Dincer, S. Flores, Jon J. Christensen, E. McDade, Guoqiao Wang, C. Xiong, N. Cairns, Jason Hassenstab, D. Marcus, A. Fagan, C. Jack, R. Hornbeck, K. Paumier, B. Ances, S. Berman, A. Brickman, D. Cash, J. Chhatwal, S. Correia, S. Förster, Nick C Fox, N. Graff-Radford, Christian la Fougère, J. Levin, C. Masters, M. Rossor, S. Salloway, A. Saykin, P. Schofield, P. Thompson, M. Weiner, D. Holtzman, M. Raichle, J. Morris, R. Bateman, T. Benzinger   +39 more
semanticscholar   +1 more source

Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production [PDF]

, 1981
CW Distelhorst, DS Wagner, Eugene Goldwasser, JW Adamson   +3 more
openalex   +1 more source

Changes in Protein Expression of Renal Drug Transporters and Drug‐Metabolizing Enzymes in Autosomal Dominant Polycystic Kidney Disease Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Autosomal dominant polycystic kidney disease is the most prevalent inherited kidney disease and leads to bilateral kidney enlargement and progressive loss of renal function, often over decades. Comorbidities include hypertension, flank pain, and bacterial infections. The condition often necessitates prolonged multidrug therapy.
Annika C. Tillmann, Dorien J. M. Peters, Amin Rostami‐Hodjegan, Patricia Wilson, Jill Norman, Jill Barber, Zubida M. Al‐Majdoub   +6 more
wiley   +1 more source

Autosomal dominant isolated ('uncomplicated') microcephaly. [PDF]

, 1988
Paul Merlob, David Steier, S H Reisner
openalex   +1 more source

A Genetic Twist: Cytologic Evaluation of Pancreatic Adenocarcinoma and Steatohepatitic Hepatocellular Carcinoma in a Patient With a Rare POLE Mutation

Diagnostic Cytopathology, EarlyView.
ABSTRACT Mutations in the DNA polymerase epsilon (POLE) gene are associated with an increased risk of various malignancies, including colorectal and other gastrointestinal, endometrial, ovarian, breast, and brain cancers. In extremely rare cases, POLE mutations have also been associated with pancreatic and hepatobiliary carcinomas.
Lynn Messersmith, Areeba H. Rizvi, Dina El‐Rayes, Jimmie Stewart III   +3 more
wiley   +1 more source

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

Neuropsychiatric Disease and Treatment, 2011
Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant ...
Shahien R, Bianchi S, Bowirrat A
doaj