Results 81 to 90 of about 9,448 (189)

Gastrointestinal manifestations in Angelman syndrome with accompanying epilepsy: a pediatric case report

Egyptian Pediatric Association Gazette
Background Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by developmental delay, seizures, and a distinctive behavioral profile including frequent laughter and hyperactivity. Although neurological symptoms are typically emphasized,
Kamil Aleksander Sobieszek, Patrycja Idzik   +1 more
doaj   +1 more source

Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model [PDF]

, 2023
Kiyoshi Egawa, Miho Watanabe, Hideaki Shiraishi, Daisuke Sato, Yukitoshi Takahashi, Saori Nishio, Atsuo Fukuda   +6 more
openalex   +1 more source

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. [PDF]

, 1998
Kokila Chotai, Stewart J. Payne
openalex   +1 more source

Author response for "Communication‐related assessments in an Angelman syndrome mouse model"

, 2020
Peter A. Perrino, Stormy J. Chamberlain, Inge‐Marie Eigsti, R. Holly Fitch   +3 more
openalex   +1 more source

Combined Cytogenetic and Molecular Analyses for the Diagnosis of Prader-Willi/Angelman Syndromes [PDF]

, 2004
Daniel Borelina, Nora Engel, Sebastián Esperante, Verónica Ferreiro, Marta de Antonio Ferrer, María Torrado, Ernesto Goldschmidt, Liliana Francipane, Irene Szijan   +8 more
openalex   +1 more source

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome [PDF]

, 2000
Shinji Saitoh, NAOKI OISO, TAKAHITO WADA, OSAMU NARAZAKI, KAZUYOSHI FUKAI   +4 more
openalex   +1 more source

Angelman Syndrome

Chapter 1 of this thesis provides a general introduction. Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by a severe intellectual disability, little to no speech, and motor problems. Children with AS frequently have epilepsy, sleeping problems, behavioral uniqueness (frequent laughter/smiling in combination with an easily ...
Madaan M, Mendez MD.
europepmc   +5 more sources

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. [PDF]

, 1996
Bernhard Horsthemke, Anneke Maat‐Kievit, Eva Sleegers, A. van den Ouweland, Karin Buiting, Christina Lich, P. Mollevanger, G.C. Beverstock, Gabriele Gillessen‐Kaesbach, Gesa Schwanitz   +9 more
openalex   +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

Communication‐related assessments in an Angelman syndrome mouse model [PDF]

, 2020
Peter A. Perrino, Stormy J. Chamberlain, Inge‐Marie Eigsti, R. Holly Fitch   +3 more
openalex   +1 more source