Results 11 to 20 of about 1,142,913 (203)
Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)
Zdorovʹe Rebenka, 2015 The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome.
O.Ye. Abaturov +2 more
doaj +2 more sources
Revista Información Científica, 2022 Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance ...
Daniela Abigail Cobo-Álvarez +2 more
doaj +1 more source
Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment)
Zdorovʹe Rebenka, 2015 The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS). It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the ...
O.Ye. Abaturov +2 more
doaj +2 more sources
Angelman Syndrome: Molecular Cytogenetic Studies
Pediatric Neurology Briefs, 1997 Clinical, neurological, and molecular genetic studies of 22 patients with diagnostic features of Angelman syndrome (AS) are reported from National Taiwan University Hospital, Taipei.
J Gordon Millichap
doaj +2 more sources
Behavior and neuropsychiatric manifestations in Angelman syndrome
Neuropsychiatric Disease and Treatment, 2008 Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics ...
Karine Pelc, Guy Cheron, Bernard Dan
doaj +1 more source
Communication in Angelman syndrome [PDF]
, 2019 The absence of speech in Angelman syndrome is striking and widely recognised by those familiar with the syndrome but the specificity of communicative impairment is not well documented.
Pearson, Effie
core +5 more sources
Neurologic and EEG Findings in Angelman Syndrome
Pediatric Neurology Briefs, 2005 The neurological and diagnostic aspects of Angelman syndrome (AS) are reviewed by a geneticist at the University of Florida, Gainesville, FL.
J Gordon Millichap
doaj +2 more sources
Genetics of Angelman Syndrome [PDF]
The American Journal of Human Genetics, 1999 We apologize to the many authors whose primary data could not be cited because of limitations of space. We thank Grace Watson for great assistance in preparation of the manuscript. This work is supported by NIH grant HD 37283.
Jiang, Yong-hui +4 more
openaire +2 more sources
Refining the behavioural phenotype of Angelman syndrome [PDF]
, 2014 Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning.
Heald, Mary Elizabeth
core +5 more sources
Revista Brasileira de Anestesiologia, 2016 INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor.
Magda Lourenço Fernandes +2 more
doaj +3 more sources