Results 161 to 170 of about 9,569 (209)

Angelman Syndrome [PDF]

, 2019
openaire   +1 more source

Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items. [PDF]

Orphanet J Rare Dis
Halpin SN, Potter SN, Gwaltney A, Sadhwani A, Okoniewski KC, Wheeler AC.   +5 more
europepmc   +1 more source

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures. [PDF]

Ann Child Neurol Soc
Chen Z, Garic D, Xu Y, Smith RG, Weisenfeld LAH, Kim SH, Styner MA, Piven J, Philpot BD, Hazlett HC, Shen MD.   +10 more
europepmc   +1 more source

A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal <i>UBE3A</i> reporter. [PDF]

Front Cell Dev Biol
Kelkar GR, Stuppy SR, Sen D, Yagci ZB, Han L, Land L, Hartman JK, Keung AJ.   +7 more
europepmc   +1 more source

Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls. [PDF]

Orphanet J Rare Dis
Gschwind L, Holst SC, Nobbs D, Lipsmeier F, Buzasi K, Boonsimma P, Rotenberg A, Kolodyazhniy V, Hipp JF.   +8 more
europepmc   +1 more source

Ube3a unsilencer for the potential treatment of Angelman syndrome. [PDF]

Nat Commun
Vihma H, Li K, Welton-Arndt A, Smith AL, Bettadapur KR, Gilmore RB, Gao E, Cotney JL, Huang HC, Collins JL, Chamberlain SJ, Lee HM, Aubé J, Philpot BD.   +13 more
europepmc   +1 more source

Angelman syndrome: Consensus for diagnostic criteria

American Journal of Medical Genetics Part A, 1995
The Scientific and Research Advisory Committee of the Angelman Syndrome Foundation recently solicited input from scientists involved in the study of Angelman syndrome to establish consensus about the clinical pro- file and diagnostic criteria of Angelman
Charles A Williams, Daniel J Driscoll, R Ellen Magenis   +2 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Epilepsy in Angelman’s Syndrome

Neuroscience and Behavioral Physiology, 2022
Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy).47 patients with a genetically verified diagnosis of AS ...
M.Yu. Bobylova, K.Yu. Mukhin, G.V. Kuzmich, L.Yu. Glukhova, O.A. Pylayeva   +4 more
openaire   +2 more sources

The behavioural phenotype of Angelman syndrome [PDF]

Journal of Intellectual Disability Research, 2006
BACKGROUND: The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation.
Chris Oliver
exaly   +2 more sources