Results 31 to 40 of about 1,536,733 (206)

Angelman syndrome in adulthood [PDF]

American Journal of Medical Genetics Part A, 2014
Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype–phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted.
Anna M, Larson, Julianna E, Shinnick, Elias A, Shaaya, Elizabeth A, Thiele, Ronald L, Thibert   +4 more
openaire   +2 more sources

Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews

Children, 2023
Previous patient-centered concept models of Angelman syndrome (AS) are integral in developing our understanding of the symptoms and impact of this condition with a holistic perspective and have highlighted the importance of motor function.
Miranda Rogers, Stéphane Motola, Yacine Bechichi, Céline Cluzeau, Tanguy Terray, Allyson Berent, Jennifer Panagoulias, Jessica Duis, Damien Eggenspieler, Laurent Servais   +9 more
doaj   +1 more source

Augmentative and Alternative Communication Intervention for People With Angelman Syndrome: a Systematic Review

, 2020
Purpose of Review: Angelman syndrome is often associated with severe communication impairment indicating the need for augmentative and alternative communication (AAC) intervention.
Trembath, D, Roche, L, Sigafoos, J
core   +1 more source

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Journal of Neurodevelopmental Disorders, 2017
Background Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a ...
Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu, Benjamin D. Philpot   +6 more
doaj   +1 more source

Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. [PDF]

PLoS ONE, 2011
Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome.
Pooja Singhmar, Arun Kumar
doaj   +1 more source

Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes

SAGE Open Medicine, 2019
Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13.
Iiro Ilmari Salminen, Bernard J Crespi, Mikael Mokkonen   +2 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation

Stem Cell Research, 2022
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression or function defects of the UBE3A gene in the maternal chromosome region 15q11-13.
Shasha Li, Qunyan Zhu, Yaoyao Cai, Qian Yang   +3 more
doaj   +1 more source

Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13

Stem Cell Research, 2019
Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion ...
Takeshi Niki, Keiko Imamura, Takako Enami, Masako Kinoshita, Haruhisa Inoue   +4 more
doaj   +1 more source

Angelman Syndrome

British Journal of Plastic Surgery, 1993
Dagli AI, Mathews J, Williams CA.
europepmc   +3 more sources

Life stories of families with sons and daughters with Angelman syndrome

Siglo Cero, 2020
The Angelman syndrome is a rare neurodevelopmental disorder caused by a gene called UBE3A that is on chromosome 15. This syndrome comes with diverse difficulties that families have to face.
Amaia GOITIA AÑORGA, Leire DARRETXE URRITXI, Naiara BERASATEGI SANCHO   +2 more
doaj   +1 more source