Results 51 to 60 of about 7,634 (165)
R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report
Clinical Pathology, 2022 Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud +4 more
doaj +1 more source
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 +2 more
wiley +1 more source
A patogênese genética e molecular da síndrome de Angelman
Jornal Brasileiro de Psiquiatria, 2011 Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência ...
Angelica Francesca Maris, Alexis Trott
doaj +1 more source
MYCN Amplification in RB1‐Inactivated Retinoblastoma: Association With High‐Risk Features
Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.ABSTRACT Background MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation. It has been suggested that retinoblastomas with MYCN amplification represent a distinct entity with more aggressive clinical behavior.
Kyriaki Papaioannou +9 more
wiley +1 more source
Angelman syndrome and isovaleric acidemia: What is the link?
Molecular Genetics and Metabolism Reports, 2015 We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht +9 more
doaj +1 more source
Journal of Child Psychology and Psychiatry, Volume 67, Issue 5, Page 740-754, May 2026.Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Christina K. Zigler +31 more
wiley +1 more source
Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model
Epilepsia, Volume 67, Issue 4, Page 2022-2034, April 2026.Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov +10 more
wiley +1 more source
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 +6 more
doaj +1 more source
Epilepsia, Volume 67, Issue 4, Page 1703-1721, April 2026.Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy +8 more
wiley +1 more source
The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 4, April 2026.ABSTRACT Preeclampsia (PE) is an obstetric disease that is characterized by reduced migration and invasion of placental trophoblast cells. Here, the effects of the E3 ubiquitin ligase UBE3A on the migration and invasion of trophoblast cells were evaluated.
Xiu‐Jun Li +5 more
wiley +1 more source