Works matching DE "ANGELMAN syndrome"
Results: 565
FLUROSENCE IN SITU HYBRIDIZATION (FISH) DETECTION OF CHROMOSOME 15Q11-Q13 DELETION IN PRADER -- WILLI AND ANGELMAN SYNDROME PATIENTS.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 202
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- Article
R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report.
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- Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010x221124269
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- Article
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
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- 2022
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- Publication type:
- Editorial
Two anesthesias in a pediatric patient affected from undiagnosed Angelman syndrome.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2013, v. 1, n. 1, p. 6, doi. 10.14587/paccj.2013.2
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- Article
Reflex seizures in a patient with Angelman syndrome and trisomy 21.
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- 2016
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- Publication type:
- Case Study
Revisiting epilepsy and the electroencephalogram patterns in Angelman syndrome.
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- Neurological Sciences, 2014, v. 35, n. 5, p. 701, doi. 10.1007/s10072-013-1586-3
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- Article
Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.
- Published in:
- 2015
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- Publication type:
- journal article
Health-related quality of life and medication use among individuals with Angelman syndrome.
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- Quality of Life Research, 2023, v. 32, n. 7, p. 2059, doi. 10.1007/s11136-023-03375-4
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- Article
Rhythmic high-amplitude delta with superimposed spikes (RHADS): a treatment dilemma.
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- Oxford Medical Case Reports, 2024, v. 2024, n. 10, p. 1, doi. 10.1093/omcr/omae114
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- Article
PARENTS' PERSPECTIVES ON INCLUSION AND SCHOOLING OF STUDENTS WITH ANGELMAN SYNDROME: SUGGESTIONS FOR EDUCATORS.
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- International Journal of Special Education, 2011, v. 26, n. 2, p. 79
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- Publication type:
- Article
Rett syndrome – advances in gene and trofinetide therapy.
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- Current Neurology / Aktualno?ci Neurologiczne, 2024, v. 24, n. 2, p. 64, doi. 10.15557/AN.2024.0010
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- Article
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
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- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
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- Publication type:
- Article
Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.
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- Biomolecules (2218-273X), 2023, v. 13, n. 12, p. 1790, doi. 10.3390/biom13121790
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- Article
Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study.
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- Frontiers in Psychiatry, 2019, v. 50, p. 1, doi. 10.3389/fpsyt.2019.00874
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- Article
Behaviour problems in Angelman syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 2, p. 97, doi. 10.1111/j.1365-2788.1995.tb00477.x
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- Publication type:
- Article
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.
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- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9790169
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- Publication type:
- Article
PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/474097
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- Article
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.
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- 2014
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- Publication type:
- Case Study
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/801094
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- Publication type:
- Article
Parent-implemented Hanen program More than words in Angelman syndrome: A case study.
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- 2016
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- Publication type:
- Case Study
Diaphragmatic breathing as treatment for escape‐maintained aggression.
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- Behavioral Interventions, 2019, v. 34, n. 2, p. 216, doi. 10.1002/bin.1663
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- Publication type:
- Article
Angelman syndrome - A rare case report.
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- Indian Journal of Public Health Research & Development, 2011, v. 2, n. 1, p. 78
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- Publication type:
- Article
Angelman syndrome: review of clinical and molecular aspects.
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- Application of Clinical Genetics, 2014, v. 7, p. 93, doi. 10.2147/TACG.S57386
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- Publication type:
- Article
UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.
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- Pigment Cell & Melanoma Research, 2011, v. 24, n. 5, p. 944, doi. 10.1111/j.1755-148X.2011.00884.x
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- Publication type:
- Article
Model of very fast (> 75 Hz) network oscillations generated by electrical coupling between the proximal axons of cerebellar Purkinje cells.
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- European Journal of Neuroscience, 2008, v. 28, n. 8, p. 1603, doi. 10.1111/j.1460-9568.2008.06477.x
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- Publication type:
- Article
Primer in Genetics and Genomics, Article 6: Basics of Epigenetic Control.
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- Biological Research for Nursing, 2018, v. 20, n. 1, p. 103, doi. 10.1177/1099800417742967
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- Publication type:
- Article
Locating genetic disease: the impact of clinical nosology on biomedical conceptions of the human genome (1966–1990).
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- New Genetics & Society, 2013, v. 32, n. 1, p. 78, doi. 10.1080/14636778.2012.735855
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- Publication type:
- Article
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a.
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- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00062
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- Publication type:
- Article
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00234
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- Publication type:
- Article
Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring.
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- Acta Paediatrica, 2001, v. 90, n. 4, p. 455, doi. 10.1111/j.1651-2227.2001.tb00451.x
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- Publication type:
- Article
Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.
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- World Journal of Biological Psychiatry, 2019, v. 20, n. 9, p. 670, doi. 10.1080/15622975.2018.1439594
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- Publication type:
- Article
Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome.
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- Cellular & Molecular Life Sciences, 2008, v. 65, n. 4, p. 656, doi. 10.1007/s00018-007-7476-1
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- Article
Molecular epigenetics of Angelman syndrome.
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- Cellular & Molecular Life Sciences, 2007, v. 64, n. 7/8, p. 947, doi. 10.1007/s00018-007-6460-0
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- Article
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.
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- Journal of Neuroscience, 2018, v. 38, n. 37, p. 8011, doi. 10.1523/JNEUROSCI.0083-18.2018
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- Publication type:
- Article
Enhanced Operant Extinction and Prefrontal Excitability in a Mouse Model of Angelman Syndrome.
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- Journal of Neuroscience, 2018, v. 38, n. 11, p. 2671, doi. 10.1523/JNEUROSCI.2828-17.2018
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- Publication type:
- Article
Enhanced Nociception in Angelman Syndrome Model Mice.
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- Journal of Neuroscience, 2017, v. 37, n. 42, p. 10230, doi. 10.1523/JNEUROSCI.1018-17.2017
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- Article
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.
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- Journal of Neuroscience, 2017, v. 37, n. 31, p. 7347, doi. 10.1523/JNEUROSCI.0037-17.2017
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- Article
Maternal Loss of Ube3a Impairs Experience-Driven Dendritic Spine Maintenance in the Developing Visual Cortex.
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- Journal of Neuroscience, 2016, v. 36, n. 17, p. 4888, doi. 10.1523/JNEUROSCI.4204-15.2016
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- Publication type:
- Article
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice.
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- Journal of Neuroscience, 2015, v. 35, n. 49, p. 16213, doi. 10.1523/JNEUROSCI.2246-15.2015
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- Publication type:
- Article
Maternal Ube3a Loss Disrupts Sleep Homeostasis But Leaves Circadian Rhythmicity Largely Intact.
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- Journal of Neuroscience, 2015, v. 35, n. 40, p. 13587, doi. 10.1523/JNEUROSCI.2194-15.2015
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- Publication type:
- Article
Imbalanced Mechanistic Target of Rapamycin C1 and C2 Activity in the Cerebellum of Angelman Syndrome Mice Impairs Motor Function.
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- Journal of Neuroscience, 2015, v. 35, n. 11, p. 4706, doi. 10.1523/JNEUROSCI.4276-14.2015
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- Publication type:
- Article
Changes in mGlu5 Receptor-Dependent Synaptic Plasticity and Coupling to Homer Proteins in the Hippocampus of Ube3A Hemizygous Mice Modeling Angelman Syndrome.
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- Journal of Neuroscience, 2014, v. 34, n. 13, p. 4558, doi. 10.1523/JNEUROSCI.1846-13.2014
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- Publication type:
- Article
The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation.
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- Journal of Neuroscience, 2013, v. 33, n. 9, p. 3799, doi. 10.1523/JNEUROSCI.1930-11.2013
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- Publication type:
- Article
Assessment of anticonvulsant effectiveness and safety in patients with Angelman's syndrome using an Internet questionnaire.
- Published in:
- 2003
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- Publication type:
- Report
The imprinting mechanism of the Prader-Willi/Angelman regional control center.
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- EMBO Journal, 2002, v. 21, n. 21, p. 5807, doi. 10.1093/emboj/cdf570
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- Publication type:
- Article
UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.
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- 2021
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- Publication type:
- journal article
Clinical epigenetics: a primer for the practitioner.
- Published in:
- 2020
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- Publication type:
- journal article
Communication in Angelman syndrome: a scoping review.
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- 2019
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- Publication type:
- journal article
Functional impairment of somatosensory association cortex in Angelman syndrome.
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- Developmental Medicine & Child Neurology, 2015, v. 57, p. 57, doi. 10.1111/dmcn.12780_93
- Publication type:
- Article