Results 131 to 140 of about 80,554 (310)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz   +12 more
wiley   +1 more source

General purpose algorithms for characterization of slow and fast phase nystagmus [PDF]

open access: yes
In the overall aim for a better understanding of the vestibular and optokinetic systems and their roles in space motion sickness, the eye movement responses to various dynamic stimuli are measured.
Lessard, Charles S.
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Nystagmus in pediatric patients: interventions and patient-focused perspectives

open access: yesClinical Ophthalmology, 2015
Kimberly Penix,1 Mark W Swanson,1 Dawn K DeCarlo1,2 1School of Optometry, 2Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA Abstract: Nystagmus refers to involuntary, typically conjugate, often ...
Penix K, Swanson MW, DeCarlo DK
doaj  

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Myelin basic protein in the cerebrospinal fluid of patients infected with HIV [PDF]

open access: yes, 1989
Ackenheil, M.   +12 more
core   +1 more source

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