Results 61 to 70 of about 1,225,648 (255)
Cerebrovascular Function in Autosomal Dominant Polycystic Kidney Disease
, 2022 Dataset for manuscript: Cerebrovascular Function in Autosomal Dominant Polycystic Kidney ...
Nowak, Kristen
core +1 more source
Educational Case: Autosomal Dominant Polycystic Kidney Disease
Academic Pathology, 2020 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS +1 more
doaj +1 more source
White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram +3 more
wiley +1 more source
Clinical Case ReportsAutosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses.
Anna Katya Brossart +4 more
doaj +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
TRAPS: An Autosomal Dominant Autoinflammatory Syndrome
Eurasian Journal of Medicine, 2019 Hereditary periodic fever syndromes are genetic autoinflammatory disorders characterized by recurrent attacks of fever and inflammation. These diseases include familial Mediterranean fever (FMF), Tumor necrosis factor receptor-associated periodic ...
Saliha Karatay, Meltem Alkan Melikoğlu
doaj
Autosomal dominant pseudoxanthoma elasticum [PDF]
Journal of Medical Genetics, 1974 Two families are described, each with a unique clinical variant of pseudoxanthoma elasticum (PXE) inherited in autosomal dominant fashion. Dominant type I PXE is characterized by a classical flexurally distributed rash, severe and frequent angina of effort, intermittent claudication and hypertension, and a very severe choroidoretinitis, often ...
openaire +2 more sources
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss
Advanced Science, EarlyView.TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale +23 more
wiley +1 more source
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation [PDF]
, 2002 Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Munro, PMG +3 more
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Autosomal-dominant osteopetrosis: An incidental finding
Indian Journal of Dental Research, 2010 Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life ...
Rajathi Maria +4 more
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