Results 61 to 70 of about 9,448 (189)

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, Volume 109, Issue 2, Page 352-355, February 2026.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Intelligent Supportive System for People with Profound Intellectual and Multiple Disabilities

Advanced Intelligent Systems, Volume 8, Issue 1, January 2026.
A holistic INSENSION system is developed—a novel intelligent decision support system leveraging state‐of‐the‐art noninvasive audio‐visual sensor technologies together with machine learning algorithms and expert knowledge, to detect and interpret behaviors and communications (nonverbal signals—NVSs) of people with PIMD in challenging real‐world ...
Gašper Slapničar, Michał Kosiedowski, Arkadiusz Radziuk, Erik Dovgan, Torsten Hammann, Meike Engelhardt, Christin Kupitz, Carmen Campomanes‐Alvarez, Dorota Janczewska, Peter Zentel, Mitja Luštrek   +10 more
wiley   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Perception of four intellectual and developmental disabilities based on search engine and news portrayal.

PLoS ONE
BackgroundFor people with intellectual and developmental disabilities, other's perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course.
Lillian J Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein   +4 more
doaj   +1 more source

Angelman Syndrome: Molecular Cytogenetic Studies

Pediatric Neurology Briefs, 1997
Clinical, neurological, and molecular genetic studies of 22 patients with diagnostic features of Angelman syndrome (AS) are reported from National Taiwan University Hospital, Taipei.
J Gordon Millichap
doaj   +1 more source

Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome [PDF]

, 2020
Elizabeth L. Berg, Michael C. Pride, Stela P. Petkova, Ruth D. Lee, Nycole A. Copping, Yanying Shen, Anna Adhikari, Timothy A. Fenton, Lauren R. Pedersen, Leigh Spencer Noakes, Brian J. Nieman, Jason P. Lerch, Sarah Harris, Heather A. Born, Melinda Peters, Peter Deng, David Cameron, Kyle D. Fink, Ulrika Beitnere, Henriette O’Geen, Anne E. Anderson, Scott V. Dindot, Kevin Nash, Edwin J. Weeber, Markus Wöhr, Jacob Ellegood, David J. Segal, Jill L. Silverman   +27 more
openalex   +1 more source

Vigabatrin-Induced Seizures in Angelman Syndrome

Pediatric Neurology Briefs, 1998
Four children with Angelman syndrome (AS) showed worsening of seizures after introduction of vigabatrin (VGB), at the University Children’s Hospital, Zurich, Switzerland.
J Gordon Millichap
doaj   +1 more source

ANGELMAN SYNDROME: THE CLINICAL CASE OF COMPLEX CHROMOSOMAL ABERRATION IN A CHILD WITH A RETARDATION OF PSYCHOPHYSICAL DEVELOPMENT

Психіатрія, неврологія та медична психологія, 2018
In the structure of the genetic causes of Angelman syndrome, homogeneous disomy of paternal origin on chromosome 15 with translocation is about 1%. It is accompanied by unexpressed phenotypic manifestations, with a low incidence of convulsive paroxysms ...
I. V. Lastivka, V. V. Antsupova, H. O. Suvorova-Grigorovich, O. V. Grishnjaeva, I. R. Tymofiychuk   +4 more
doaj   +1 more source

Синдром Ангельмана. Часть 1 (этиология и патогенез)

Zdorovʹe Rebenka, 2015
В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана.
A.Ye. Abaturov, L.L. Petrenko, Ye.L. Krivusha   +2 more
doaj   +1 more source

Neurologic and EEG Findings in Angelman Syndrome

Pediatric Neurology Briefs, 2005
The neurological and diagnostic aspects of Angelman syndrome (AS) are reviewed by a geneticist at the University of Florida, Gainesville, FL.
J Gordon Millichap
doaj   +1 more source