Bardet-biedl Syndrome 1
What's New
Last Posted: Jan 24, 2023
- Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
Forsythe Elizabeth et al. Orphanet journal of rare diseases 2023 18(1) 12 - Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Roberts Karyn J et al. International journal of obesity (2005) 2022 - Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best Sunayna et al. Journal of medical genetics 2021 - An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May - Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.
Zelihic Deniz et al. European journal of medical genetics 2020 Jan 103856 - Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman Omamah A et al. European journal of human genetics : EJHG 2019 Dec - Toward personalized medicine in Bardet-Biedl syndrome.
Kenny Joanna et al. Personalized medicine 2017 14(5) 447-456 - Bardet-Biedl syndrome
From NCATS Genetic and Rare Diseases Information Center - Bardet-Biedl syndrome 1
From NCATS Genetic and Rare Diseases Information Center - Bardet-Biedl syndrome 10
From NCATS Genetic and Rare Diseases Information Center
More
About Rare Diseases PHGKB
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
- Content source: