Results 141 to 150 of about 54,152 (259)
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Clinical Assessment of the Nystagmus Fixation Suppression Test: An Experimental Study.
BACKGROUND Assessment of nystagmus fixation suppression can be used as an additional diagnostic tool for patients with an acute vestibular syndrome to distinguish between a central or peripheral cause.
Stefanie Siegrist +7 more
core +1 more source
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
Electrophysiological assessment of the retina in children with congenital nystagmus
Zdravniški Vestnik, 2012 Background: Electroretinography (ERG) enables assessment of the retinal function and facilitates the diagnostics of congenital nystagmus in children.
Alma Beharić +2 more
doaj
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
Multifractal characterization of nystagmus eye movements
In this work, we investigate the multifractal properties of eye movement dynamics of children with infantile nystagmus, particularly the fluctuations of its velocity.
Duarte, Cristina Daiana +5 more
core +1 more source
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
Wrong-Way Nystagmus In Acute Vestibular Disorders
Peripheral vestibular disorders classically present with contralesional (inhibitory) nystagmus (e.g., vestibular neuritis in the acute vestibular syndrome [AVS]), while ipsilesional (excitatory) nystagmus is less common (e.g., Ménière\u27s in the ...
Claire Allen; Jorge Kattah; Bernardo Ramos; Daniel Gold
core
Addiction, Volume 121, Issue 10, Page 2633-2645, October 2026.Abstract Background and aims Recent decades have seen a rise in the number of pregnancies exposed to opioids. Whilst evidence of the impact of such exposure on pregnancy and infant outcomes is fairly robust, the impact of prenatal opioid exposure (POE) on longer‐term outcomes for children and young people remains unclear.
Louise Marryat +8 more
wiley +1 more source