Results 91 to 100 of about 9,569 (209)

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Leonard, Helen, Zappella, M., Angus J. Clarke, Bailey, Mark E. S., Daniel G. Glaze, Clarke, A.J., Zappella, Michele, Kaufmann, Walter E., Neul, J.L., null Jeffrey L. Neul, John Christodoulou, N. Carolyn Schanen, Christodoulou, John, Percy, Alan K., Leonard, H., Michele Zappella, Walter E. Kaufmann, Mark E. S. Bailey, Neul, Jeffrey L., Kaufmann, W.E., RENIERI, ALESSANDRA, Schanen, N. Carolyn, Glaze, Daniel G., Bailey, M.E., Clarke, Angus John, Helen Leonard, Bailey, M.E.S., Bahi Buisson, N., Christodoulou, J., Peter Huppke, Percy, A.K., Bahi-Buisson, N., null null, RettSearch Consortium, MARI, FRANCESCA, Renieri, A., Alessandra Renieri, Nadia Bahi-Buisson, Bahi-Buisson, Nadia, Alan K. Percy, Huppke, Peter, Clarke, Angus J., Glaze, D.G., Schanen, N.C., Huppke, P.   +44 more
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ANGELMAN SYNDROME: THE CLINICAL CASE OF COMPLEX CHROMOSOMAL ABERRATION IN A CHILD WITH A RETARDATION OF PSYCHOPHYSICAL DEVELOPMENT

Психіатрія, неврологія та медична психологія, 2018
In the structure of the genetic causes of Angelman syndrome, homogeneous disomy of paternal origin on chromosome 15 with translocation is about 1%. It is accompanied by unexpressed phenotypic manifestations, with a low incidence of convulsive paroxysms ...
I. V. Lastivka, V. V. Antsupova, H. O. Suvorova-Grigorovich, O. V. Grishnjaeva, I. R. Tymofiychuk   +4 more
doaj   +1 more source

Синдром Ангельмана. Часть 1 (этиология и патогенез)

Zdorovʹe Rebenka, 2015
В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана.
A.Ye. Abaturov, L.L. Petrenko, Ye.L. Krivusha   +2 more
doaj   +1 more source

Angelman Syndrome and Epilepsy

, 2006
Twenty-six patients with Angelman syndrome (AS), of which 19 had 15ql 1-13 maternal deletion, were studied and followed at the University of San Paulo, Brazil, with particular reference to the prevalence and type of epilepsy and its response to ...
J Gordon Millichap
core   +1 more source

Institutionalised Adults with Angelman Syndrome

, 1997
info:eu-repo/semantics ...
Dan, Bernard, Hilbert, Pascale, Therasse, F., Van Maldergem, Lionel   +3 more
core  

Angelman Syndrome without Chromosome Anomaly

, 1998
The clinical manifestations of Angelman syndrome (AS) in 12 patients without a cytogenetic or molecular defect and 28 with a deletion were compared at the Department of Neurology, Leiden University Medical Center, and other hospitals in the ...
J Gordon Millichap
core   +1 more source

The Effect of Oromotor and Sensory Treatment on Persistent Thumb Sucking and Basic Feeding and Swallowing in a Toddler with Angelman Syndrome: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
A toddler with Angelman syndrome was the subject of the study to find out the effect of oromotor and sensory therapy on fundamental eating and swallowing as well as prolonged thumb sucking.
Neelam Tejani, Seema Saini, Tushar Palekar   +2 more
doaj   +1 more source

Original animated description of Angelman syndrome

, 1997
info:eu-repo/semantics ...
Dan, Bernard
core  

Motor Impairments in Angelman Syndrome

, 2004
Of 33 children and adolescents (median age 6 years) investigated for learning disability, epilepsy, and motor dysfunction to detect suspected Angelman syndrome (AS), in a study at Goteborg University, Sweden, 23 fulfilled criteria for ...
J Gordon Millichap
core   +1 more source

EEG Patterns in Angelman Syndrome

, 2003
The sensitivity of the electroencephalogram (EEG) in the diagnosis of Angelman syndrome (AS) was studied in 26 patients (3/1 : F/M ratio) at the University of Sao Paulo Medical School ...
J Gordon Millichap, J Gordon Millichap
core   +1 more source