Results 111 to 120 of about 108,556 (256)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
S84-41631 Optokinetic Nystagmus
This image reflects a graph titled Optokinetic Nystagmus, STS-7 ...
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Chapter 2: Infantile Nystagmus Syndrome
, 2012 Nystagmus in infancy and childhood outlines the understanding, evaluation, and treatments of nystagmus in infancy and childhood. Aligning this condition with advanced concepts of developmental brain-eye diseases and summarizing novel treatment paradigms,
Richard W. Hertle MD, FACS, FAAO, FAAP; Louis F. Dell\u27Osso, PhD
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American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Gaze-evoked and rebound nystagmus
When trying to distinguish pathologic gaze-evoked nystagmus from physiologic end point nystagmus, the following features (pathologic gaze-evoked nystagmus (GEN) is seen in this patient with cerebellar hypoplasia) should be sought: 1) GEN persists over ...
Daniel R. Gold, DO
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, 2009 Nystagmus is a type of eye movement characterized by alternating smooth pursuit in one direction and saccadic movement in the other direction. Nystagmus may be physiologic when occurring normally and serving its normal function or pathologic when ...
G. Di Benedetto +4 more
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Localization of Downbeat Nystagmus
, 2022 Spontaneous downbeat nystagmus (DBN) is typically present in the primary position with a downward fast-phase and slow upward drift. There are at least three different proposed mechanisms for DBN: vertical semicircular canal asymmetric impairments, up ...
Elizabeth Fracica; Kemar Green
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Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye +2 more
wiley +1 more source
Editorial: Improving visual deficits with perceptual learning
Frontiers in Psychology, 2015 Gianluca eCampana +3 more
doaj +1 more source
Journal Club Update: Nystagmus and Saccadic Intrusions
, 2014 Nystagmus is common, with a prevalence of approximately 24 per 10,000 in the general population. Because of the associated visual symptoms and negative impact on quality of life, many patients with nystagmus request treatment.
Matthew Thurtell, Mbbs, fRaCP
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