Results 231 to 240 of about 228,568 (289)

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

Evaluation of the Efficacy of Treatment for Convergence Insufficiency with a New Digital Mobile Platform: A Comparative Preliminary Study. [PDF]

Vision (Basel)
Pina-Balofer A, Piñero DP, Buigues M, Cavaliere-Ballesta C, Viudes S, Bataille L.   +5 more
europepmc   +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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The Future of Interventional Keratoconus Management: Perspectives on Integrating Epithelium-on Oxygen-Enriched Cross-Linking into Comprehensive Care Pathways. [PDF]

Ther Clin Risk Manag
Beckman KA, Syed ZA, Gromacki SJ.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Evaluation of the Impact of a Novel Visual Training Video Game on Oculomotor Function and Visual Symptoms in Subjects with Parkinson's Disease and Convergence Insufficiency: A Pilot Study. [PDF]

Life (Basel)
Piñero DP, Pérez-Casas C, Pina-Balofer A, Bilbao C, Cavaliere-Ballesta C, Bataille L, Pérez-Cambrodí RJ.   +6 more
europepmc   +1 more source

Using Eye Tracking to Measure Video Game-Assisted Therapy for Improved Visual Outcomes in Pediatric Strabismus: Randomized Control Trial. [PDF]

JMIR Serious Games
Klaib AF.
europepmc   +1 more source

Perceptual Learning Therapy Using RevitalVision in Patching-Failed Amblyopia: Visual Outcomes, Predictors of Response, and Durability. [PDF]

Clin Ophthalmol
Samant M, Mhatre R, Kaushal R, Haldipurkar S, Sengupta S.   +4 more
europepmc   +1 more source

Case Report: An interesting case of vision and hearing loss revealing CNS recurrence in Philadelphia-positive acute lymphoblastic leukemia. [PDF]

Front Oncol
Ike I, Samperio VM, Tsai HT.
europepmc   +1 more source

Computer Vision for Predicting the Efficacy of Neoadjuvant Therapy in Breast Cancer. [PDF]

Cancers (Basel)
Sitnikova D, Fayzullin A, Chistov F, Timashev P, Savelov N.   +4 more
europepmc   +1 more source