Results 21 to 30 of about 17,947 (227)
Magnetic Oculomotor Prosthetics for Acquired Nystagmus [PDF]
, 2017 PURPOSE: Acquired nystagmus, a highly symptomatic consequence of damage to the substrates of oculomotor control, often is resistant to pharmacotherapy. Although heterogeneous in its neural cause, its expression is unified at the effector-the eye muscles ...
David H. Verity +19 more
core +1 more source
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
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
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
Skull vibration induced nystagmus test
, 2007 OBJECTIVES: To establish during a consensus meeting the fundamental basis, the validity criteria, the main indications and results of the skull vibration induced nystagmus test (SVINT) which explores the vestibule high frequencies.
Negrevergne, M. +6 more
core +2 more sources
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Physiologic End Point Nystagmus
, 2022 This is a normal subject with end point nystagmus in lateral gaze. Features that favor physiologic (normal) end point nystagmus (EPN) rather than pathologic gaze-evoked nystagmus include: only present in far lateral gaze (at close to 100% of the normal ...
Daniel R. Gold, DO
core
Chiari I Malformation: Review and Update of Current Treatment Options
Clinical Anatomy, EarlyView.ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo +11 more
wiley +1 more source
Eye &ENT Research, EarlyView.ABSTRACT Background Bilateral congenital cataracts are a major cause of preventable childhood blindness. Although delayed sequential bilateral cataract surgery (DSBCS) has traditionally been the preferred approach, immediate sequential bilateral cataract surgery (ISBCS) is increasingly being considered to reduce anesthesia exposure and healthcare ...
Mehreen Akram +8 more
wiley +1 more source