Angelman Syndrome
What's New
Last Posted: Sep 30, 2022
- Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome.
Rispoli Mandy et al. Advances in neurodevelopmental disorders 2022 1-18 - Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler David E et al. JAMA network open 2022 5(1) e2141911 - Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Kim Boram et al. Annals of laboratory medicine 2021 42(1) 79-88 - Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Yang Mei et al. Epilepsy research 2021 Jan 170106552 - Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.
Adams Dawn et al. American journal of medical genetics. Part A 2020 May - State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians.
Kreiman Bracha L et al. Seminars in pediatric neurology 2020 Jul 34100804 - Angelman Syndrome: a journey through the brain.
Maranga Carina et al. The FEBS journal 2020 Feb - Clinical epigenetics: a primer for the practitioner.
Aygun Deniz et al. Developmental medicine and child neurology 2019 Nov - One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019 - A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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