Last Posted: Feb 10, 2023
- Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.
Noordman Iris, et al. European journal of medical genetics 2018 0 (6) 301-306
- Artificial intelligence and machine learning in aortic disease.
Hahn Lewis D et al. Current opinion in cardiology 2021
- Histologic and morphologic character of pediatric renal artery occlusive disease.
Coleman Dawn M, et al. Journal of vascular surgery 2020 4 (1) 161-171
- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.
Behiry Eman G, et al. Molecular genetics & genomic medicine 2019 3 e612
- Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Bonachea Elizabeth M, et al. Pediatric research 2014 8 (2) 211-6
- Variants in the NOTCH1 gene in patients with aortic coarctation.
Freylikhman Olga, et al. Congenital heart disease 0 0 (5) 391-6
- Low transcriptional activity haplotype of matrix metalloproteinase 1 is less frequent in bicuspid aortic valve patients.
Martín María, et al. Gene 2013 7 (2) 304-8
- R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
Beffagna Giorgia, et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2013 8 (8) 582-6
- Exercise capacity after coarctation repair relates to the c.46A > G genomic polymorphism of the ss2-adrenoreceptor and the c.704T > C angiotensinogen polymorphism.
Hager Alfred, et al. European journal of preventive cardiology 2012 4 (2) 199-204
- Aortic coarctation
From NCATS Genetic and Rare Diseases Information Center
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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, 2023
- Page last updated:Mar 30, 2023
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