Works matching DE "ANGELMAN syndrome"
Results: 562
Unique Retrotransposon LINE-1 Distribution at the Prader–Willi Angelman Syndrome Locus.
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- Journal of Molecular Evolution, 2007, v. 65, n. 4, p. 475, doi. 10.1007/s00239-007-9043-7
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- Article
3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
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- 2011
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- Publication type:
- Case Study
Paving the road for the study of epigenetics in neurodegenerative diseases.
- Published in:
- 2016
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- Publication type:
- Editorial
Neurodevelopmental disease: A molecular tightrope.
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- Nature, 2015, v. 526, n. 7571, p. 50, doi. 10.1038/526050b
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- Publication type:
- Article
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
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- Nature, 2015, v. 518, n. 7539, p. 409, doi. 10.1038/nature13975
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- Article
Angelman syndrome: Drugs to awaken a paternal gene.
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- Nature, 2012, v. 481, n. 7380, p. 150, doi. 10.1038/nature10784
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- Article
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
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- Nature, 2012, v. 481, n. 7380, p. 185, doi. 10.1038/nature10726
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- Article
Neuroscience: Angelman syndrome connections.
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- Nature, 2010, v. 468, n. 7326, p. 907, doi. 10.1038/468907a
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- Article
P-70 Angelman syndrome associated with congenital hypothyroidism and corticotropic insufficiency.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.066
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- Article
P-765 - Management of children with angelman syndrome
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- 2012
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- Abstract
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
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- Journal of Neurogenetics, 2015, v. 29, n. 4, p. 178, doi. 10.3109/01677063.2015.1091452
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- Article
My Sister, an Angel.
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- 2015
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- Essay
Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.
- Published in:
- 2015
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- Publication type:
- journal 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
Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.852208
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- Publication type:
- Article
Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.886028
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- Article
Editorial.
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- 2001
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- Publication type:
- Editorial
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.
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- Logopedics Phoniatrics Vocology, 2001, v. 26, n. 1, p. 2, doi. 10.1080/140154301300109044
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- Publication type:
- Article
Short Stature and Distinct Growth Characteristics in Angelman Syndrome.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 334, doi. 10.1159/000534612
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- Article
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in <bold>CYP11A1</bold>.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 205, doi. 10.1159/000487638
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- Article
Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
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- Genes, 2024, v. 15, n. 12, p. 1546, doi. 10.3390/genes15121546
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- Article
Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader–Willi and Angelman Syndromes: A Preliminary Investigation.
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- Genes, 2024, v. 15, n. 5, p. 641, doi. 10.3390/genes15050641
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- Publication type:
- Article
Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.
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- Genes, 2023, v. 14, n. 2, p. 299, doi. 10.3390/genes14020299
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- Publication type:
- Article
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.
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- Genes, 2022, v. 13, n. 8, p. 1447, doi. 10.3390/genes13081447
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- Publication type:
- Article
Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models.
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- Genes, 2021, v. 12, n. 11, p. 1704, doi. 10.3390/genes12111704
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- Article
Genotype–Phenotype Correlations in Angelman Syndrome.
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- Genes, 2021, v. 12, n. 7, p. 987, doi. 10.3390/genes12070987
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- Article
Multilocus methylation defects in imprinting disorders.
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- Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037
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- Article
Developmental milestones and daily living skills in individuals with Angelman syndrome.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09548-7
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- Article
Exploring an objective measure of overactivity in children with rare genetic syndromes.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09535-y
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- Article
Outcome measures in Angelman syndrome.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09516-1
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- Publication type:
- Article
Age of diagnosis for children with chromosome 15q syndromes.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09504-x
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- Publication type:
- Article
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09494-w
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- Publication type:
- Article
Cortical and subcortical morphological alteration in Angelman syndrome.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-022-09469-3
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- Publication type:
- Article
The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.
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- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09426-0
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- Publication type:
- Article
Therapeutic approach to neurological manifestations of Angelman syndrome.
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- 2022
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- Publication type:
- Case Study
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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- Article
Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
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- PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0311565
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- Publication type:
- Article
Use of Enhanced Natural Gestures to Foster Interactions Between Children With Angelman Syndrome and Their Parents.
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- American Journal of Speech-Language Pathology, 2002, v. 11, n. 4, p. 340, doi. 10.1044/1058-0360(2002/039)
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- Publication type:
- Article
Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.
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- Frontiers in Neuroanatomy, 2024, p. 1, doi. 10.3389/fnana.2024.1410791
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- Publication type:
- Article
An in vivo Cell-Based Delivery Platform for Zinc Finger Artificial Transcription Factors in Pre-clinical Animal Models.
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- Frontiers in Molecular Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnmol.2021.789913
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- Article
CONTINUING EDUCATION HOME STUDY ACTIVITY.
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- Neonatal Network, 2017, v. 36, n. 3, p. 174, doi. 10.1891/0730-0832.36.3.174
- Publication type:
- Article
Angelman Syndrome: Identification and Management.
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- Neonatal Network, 2017, v. 36, n. 3, p. 142, doi. 10.1891/0730-0832.36.3.142
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- Article
The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03551-4
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- Publication type:
- Article
Lack of UBE3A-Mediated Regulation of Synaptic SK2 Channels Contributes to Learning and Memory Impairment in the Female Mouse Model of Angelman Syndrome.
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- Neural Plasticity, 2022, v. 2022, p. 1, doi. 10.1155/2022/3923384
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- Publication type:
- Article
Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the Ube3a Deletion Rat Model of Angelman Syndrome.
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- Journal of Neuroscience, 2021, v. 41, n. 42, p. 8801, doi. 10.1523/JNEUROSCI.0925-21.2021
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- Publication type:
- Article
'Developmental impairment that is not immaturity'.
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- 2005
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- Publication type:
- commentary
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome.
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- Developmental Medicine & Child Neurology, 2004, v. 46, n. 4, p. 239, doi. 10.1017/S0012162204000398
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- Publication type:
- Article
Impronta Genómica y Desarrollo Embrionario.
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- International Journal of Morphology, 2012, v. 30, n. 4, p. 1453, doi. 10.4067/S0717-95022012000400029
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- Publication type:
- Article
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 303, doi. 10.3390/ijms24010303
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- Publication type:
- Article
An Association Study of DNA Methylation and Gene Expression in Angelman Syndrome: A Bioinformatics Approach.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9139, doi. 10.3390/ijms23169139
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- Publication type:
- Article