Results 111 to 120 of about 9,569 (209)

Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome

, 2004
Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome: We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine ...
Caksen, H, Girgin, N, Kansu, A, Deda, G, Suskan, E, Uysal, S, Tukun, A   +6 more
core  

A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome

, 2005
The present study examined the life histories of individuals In Western Australia with a diagnosis of Angelman or Prader-Willi syndrome. Angelman and Prader_Willi syndrome, are phenoypically diverse disorders both of which result from the failure of ...
Thomson, Allyson K.
core  

Sensory Processing Patterns in Persons With Angelman Syndrome

, 2006
OBJECTIVE. Research examining sensory processing patterns in persons with Angelman syndrome is nonexistent despite anecdotal evidence and clinical diagnostic criteria that may reflect these features.
Nicolay Chertkoff Walz, Grace T. Baranek
core   +1 more source

The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice

Scientific Reports
Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of
Kellan P. Weston, Anna M. Gunelson, Susan E. Maloney, Xia Ge, Jalin A. Stelzer, Kwang-Soo Kim, Shylyn Collier, Marissa M. Mindt, Megan J. Agajanian, Michael B. Major, Dennis Goldfarb, Kevin K. Noguchi, Jason J. Yi   +12 more
doaj   +1 more source

Motor strategies in Angelman syndrome, spastic diplegia and normal children

, 1997
info:eu-repo/semantics ...
Bouillot, Ethel, Dan, Bernard, Christiaens, Florence, Boyd, S G, Boyd, Stewart G., Chéron, Guy, Bengoetxea, Ana   +6 more
core  

A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing

Clinical Epigenetics
Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome.
Laura Holthöfer, Stefan Diederich, Verena Haug, Lioba Lehmann, Charlotte Hewel, Norbert W. Paul, Susann Schweiger, Susanne Gerber, Matthias Linke   +8 more
doaj   +1 more source

A case with angelman syndrome

, 2009
Angelman Sendromu(AS) 15q11-13 lokusunu içeren delesyon, uniparental dizomi, imprintlenme defekti ya da UBE3A gen defektinden kaynaklanan, nadir görülen bir genetik hastalıktır. 15q11q13 bölge delesyonu, AS' unun yaklaşık %70 inden sorumludur. Etkilenmiş
H. Akın, Filiz Hazan, Ö. Çoğullu, S. Gökben, G. Serdaroğlu, A. Aykut, F. Özkınay   +6 more
core  

Angelman syndrome and thyroid dysfunction

, 2012
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis.
Corona-Rivera, A., Bobadilla-Morales, L., Pimentel-Gutierrez, H.J., Corona-Rivera, J.R., Monterrubio-Ledezma, C.E.   +4 more
core   +1 more source

Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life. [PDF]

J Neurodev Disord
Domaradzki J, Walkowiak D.
europepmc   +1 more source

Adenosine Receptor Functionality and Desensitization Machinery in a Neuronal Cell Model of Angelman Syndrome. [PDF]

J Dev Biol
Contestabile M, Martins de Almeida JF, De Cesari C, Tonazzini I, Artini PG, Daniele S.   +5 more
europepmc   +1 more source