Results 51 to 60 of about 50,007 (274)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Localization of Downbeat Nystagmus [PDF]
, 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
core
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.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 Interpretation of Positional Nystagmus Provoked by both Dix-Hallpike and Supine Head-Roll Tests [PDF]
, 2022 BACKGROUND: Both the Dix-Hallpike test and the supine head-roll test can provoke positional nystagmus in a group of benign paroxysmal positional vertigo patients, including but not limited to those with multiple canal involvement.
Erbek, Seyra H. +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, EarlyView.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
The Provision of Patient Information about Nystagmus
British and Irish Orthoptic Journal, 2018 Aims: The aims of this study were to evaluate the current provision of patient information about nystagmus in orthoptic clinics in the UK and Ireland and to develop a standardised information pack about nystagmus.
Anne Bjerre +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.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
The relationship between motor proficiency, bilateral vestibular hypofunction and dynamic visual acuity in children with congenital or early acquired sensorineural hearing loss [PDF]
, 2010 Includes bibliographical references (leaves 105-115).The functional integrity of the vestibular system in children is not often tested. Due to the close relationship between the cochlea and the peripheral vestibular system, the function of the vestibular
Geldenhuys, Wilhelmien
core
Efficiency of nistagmus treatment method using videooculography in a long-term observation [PDF]
Саратовский научно-медицинский журнал, 2017 The purpose of the study was to investigate the efficiency of nistagmus treatment method using videooculography in a long-term observation. Material and methods. 288 patients were examined.
Doroshenko А.А. +5 more
doaj