Results 71 to 80 of about 1,142,913 (203)

Strabismus surgery in Angelman syndrome: More than ocular alignment.

PLoS ONE, 2020
PurposeTo report and evaluate strabismus surgery in children with Angelman syndrome, in order to optimize and standardize surgical approach. Other purposes are to understand the possible relation between ocular findings and motor ability, and between ...
Paola Michieletto, Stefano Pensiero, Laura Diplotti, Luca Ronfani, Manuela Giangreco, Alberto Danieli, Paolo Bonanni   +6 more
doaj   +1 more source

Surgical extraction of a supernumerary tooth in a patient with Angelman syndrome - case report

Journal of Education, Health and Sport, 2020
The article discusses the problem of dental-occlusal disorders in patients with rare Angelman syndrome, based on the case report of an 8-year-old patient.
Małgorzata Lipczyńska-Lewandowska, Damian Chybicki, Gaja Torbicka, Michał Ceranka, Anna Janas-Naze   +4 more
doaj   +1 more source

Parent/Caregiver Perspectives on the Healthcare Decision‐Making Involvement of Young People With Intellectual Disability: A Qualitative Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Young people with intellectual disability often have complex healthcare needs. Parent/caregivers can enhance their child's involvement in healthcare decision‐making to improve treatment adherence and health outcomes. Healthcare decision‐making is embedded within health literacy skillsets, and for people with intellectual disability ...
Jessica Keeley, Zhenmei Yeap, Thomas Nevill, Rachel Skoss, Aasta Abbott, Sandra Thompson, Sophie Haywood, Rachel Collins, Katherine Langdon, Jenny Downs   +9 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 10, Page 985-1000, October 2026.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source

Speech in Angelman syndrome

, 1997
info:eu-repo/semantics ...
Dan, Bernard, Christiaens, Florence, Klees, M., Szyper, Michèle, Gerbaux, M., Senn, S.   +5 more
core  

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Aparna Bhanushali, Archana Kawalakatt, Smita Kulkarni, Preethi Nair, Ankita Mali, Ashlesha Pradhan, Anirvan Chatterjee   +6 more
wiley   +1 more source

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

Myoclonus in Angelman Syndrome

, 1996
A clinical and electroencephalographic study of 11 unrelated patients with Angelman syndrome (AS), confirmed by genetic analysis, is reported from the University of Pisa ...
J Gordon Millichap
core   +1 more source