Results 51 to 60 of about 71,528 (269)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

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., Radevich S.B., Postelga А.Е., Usanova Т.В., Kamenskikh T.G., Usanov D.A.   +5 more
doaj  

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, Gemma E. Arblaster, Arthur Nye, Helen J. Griffiths   +3 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Cupulolithiasis as an Alternative Mechanism for Pseudo-spontaneous Nystagmus in Horizontal Canal Benign Paroxysmal Positional Vertigo

OTO Open, 2022
Benign paroxysmal positional vertigo of the horizontal semicircular canal may present a differential diagnostic challenge. In addition to the classical positional nystagmus, a persistent nystagmus in a seated position occasionally occurs, so-called ...
Felix K. Schwarz MD, Erich Vyskocil MD, Bela Büki MD, PhD, Gerald Wiest MD   +3 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

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, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +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

Persistent Upbeat Positional Nystagmus in a Patient with Bilateral Posterior Canal Benign Paroxysmal Positional Vertigo

Case Reports in Otolaryngology, 2019
Here, we report a patient with persistent positional upbeat nystagmus in a straight supine position with no evident abnormal central nervous system findings.
Akihide Ichimura, Shigeto Itani
doaj   +1 more source

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, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Fixation eye movement abnormalities and stereopsis recovery following strabismus repair

Scientific Reports, 2021
We evaluated the effects of strabismus repair on fixational eye movements (FEMs) and stereopsis recovery in patients with fusion maldevelopment nystagmus (FMN) and patients without nystagmus.
Talora L. Martin, Jordan Murray, Kiran Garg, Charles Gallagher, Aasef G. Shaikh, Fatema F. Ghasia   +5 more
doaj   +1 more source