Results 141 to 150 of about 85,140 (278)

A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

open access: yesClinical Genetics, Volume 108, Issue 1, Page 86-91, July 2025.
Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Alistair T. Pagnamenta   +6 more
wiley   +1 more source

Systematic Review and Meta‐Analysis of Audiometric Parameters for Assistive Hearing Technology for Adults and Children With Tympanic Membrane Perforation

open access: yesClinical Otolaryngology, Volume 50, Issue 4, Page 589-599, July 2025.
ABSTRACT Introduction Tympanic membrane perforation can cause hearing impairment with detrimental effects on communication and quality of life, and is a problem affecting an estimated 250 million people. To date, there is little analysis to inform public policy on options for assistive hearing technology rehabilitation in this group.
Thomas Hampton   +3 more
wiley   +1 more source

Anti‐neutrophil cytoplasmic antibodies associated interstitial pneumonia: A possible new clinical entity

open access: yesEuropean Journal of Clinical Investigation, Volume 55, Issue 7, July 2025.
In a study of 101 idiopathic interstitial pneumonia (IIP) and interstitial pneumonia with autoimmune features (IPAF) patients, 21 (20.8%) were ANCA‐positive. ANCA+ patients had higher rates of NSIP, bronchiectasis, arthralgias, and elevated CRP, with 43% of p‐ANCA+ patients progressing to systemic vasculitis (SV) within 12 months (OR 26.3, p < .0001 ...
Claudia Iannone   +11 more
wiley   +1 more source

Twenty‐Four‐Hour Electrocardiographic Monitoring for Assessment of Cardiac Arrhythmias in Healthy and Hospitalized Goats

open access: yesJournal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Continuous 24‐h electrocardiographic (ECG) recording is a well‐established method for the detection of intermittent arrhythmias in veterinary medicine. The clinical utility of 24‐h ECG for the detection of intermittent arrhythmias in hospitalized goats has not been reported.
Alyssa Sullivan   +5 more
wiley   +1 more source

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