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Precision Health Database


Precision Health Database|Search|PHGKB

Heart, Lung, Blood and Sleep Disorders

Last data update: Sep 22, 2023. (Total: 61629 Documents since 2012)
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Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.
Jason P Glotzbach et al. Circulation 2023
Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population.
Tetske Dijkstra et al. European journal of human genetics : EJHG 2023
Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms.
Yu Huang et al. The EPMA journal 2023 14(1) 73-86
The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.
Emanuele Monda et al. Diagnostics (Basel, Switzerland) 2023 13(4)
The role of aldehyde dehydrogenase 2 in cardiovascular disease.
Jian Zhang et al. Nature reviews. Cardiology 2023
Evaluating feasibility of using national registries for identification, invitation, and ultrasound examination of persons with hereditary risk for aneurysm disease-detecting abdominal aortic aneurysms in first degree relatives (adult offspring) to AAA patients (DAAAD).
Hultgren Rebecka et al. Pilot and feasibility studies 2022 8(1) 252
HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection.
Zhou Wei-Zhen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith Emily et al. Journal of the American Heart Association 2022 e024501
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
Portilla-Fernandez Eliana et al. Human molecular genetics 2022
Screening for Abdominal Aortic Aneurysms and Risk Factors in 65-Year-Old Men in Oslo, Norway.
Rabben Toril et al. Vascular health and risk management 2021 17561-570
Clinical manifestations and genetic characteristics in the Taiwan thoracic aortic aneurysm and dissection cohort - a prospective cohort study.
Duan De-Min et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2021
Uptake of Screening and Recurrence of Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Among At-Risk Siblings of Pediatric Probands.
Miller Daniel et al. The Journal of pediatrics 2021
Characterization of syndromic, non-syndromic familial, and sporadic Type B Aortic Dissection.
Shalhub Sherene et al. Journal of vascular surgery 2020 Nov
Human aortic aneurysm genomic dictionary: is it possible?
Brownstein Adam Joseph et al. Indian journal of thoracic and cardiovascular surgery : official organ, Association of Thoracic and Cardiovascular Surgeons of India 2019 Jun 35(Suppl 2) 57-66
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
Familial Predisposition and Differences in Radiographic Patterns in Spontaneous Nonaneurysmal Subarachnoid Hemorrhage.
Lai Pui Man Rosalind et al. Neurosurgery 2020 Oct
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.
Klarin Derek et al. Circulation 2020 Sep
Familial Legacy of Thoracic Aortic Aneurysm.
Elefteriades John A et al. Circulation 2020 Sep 142(10) 929-931
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al. Orphanet journal of rare diseases 2020 Apr 15(1) 83
Marfan syndrome: A therapeutic challenge for long-term care.
Wagner A H et al. Biochemical pharmacology 2019 16453-63
Genetic Heart Diseases: Familial Aortopathies - State of the Art Review.
Zentner Dominica et al. Heart, lung & circulation 2019 Dec
The Clinical Utility and Assessment of Renal Biomarkers in Acute Kidney Injury After Abdominal Endovascular Aneurysm Repair. A Systematic Review.
Karaolanis Georgios et al. Current pharmaceutical design 2019 Dec
Screening for Abdominal Aortic Aneurysm-A Call to Arms?
Mell Matthew et al. JAMA network open 2019 Dec 2(12) e1917168
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264
Genetics of syndromic and nonsyndromic aortopathies.
Rigelsky Christina M et al. Current opinion in pediatrics 2019 Oct
Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo Erin et al. The Medical clinics of North America 2019 Nov 103(6) 1005-1019
CLINGEN Actionability Report for Marfan Syndrome - FBN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos Syndrome Type IV - COL3A1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Alkaptonuria-HGD
ClinGen Actionability Working Group
CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group
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