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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 18, 2024
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Prevalence of hereditary hemorrhagic telangiectasia in a medical care program organization in Buenos Aires, Argentina.
Marcelo M Serra et al. Medicina (B Aires) 2024 84(2) 221-226
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Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
Cinthia Aguilera et al. Genes 2023 14(3)
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Nationwide Awareness Campaign and Call for Dental Screening for Hereditary Hemorrhagic Telangiectasia in Germany.
Urban W Geisthoff et al. International journal of dentistry 2023 20238737727
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Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.
Cesare Danesino et al. Pediatric reports 2023 15(1) 129-142
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Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy.
Si-Mohamed Salim A et al. Journal of personalized medicine 2022 12(7)
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Development and performance of a hereditary hemorrhagic telangiectasia-specific quality-of-life instrument.
Kasthuri Raj S et al. Blood advances 2022 6(14) 4301-4309
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A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy.
Galiatsatos Panagis et al. Orphanet journal of rare diseases 2022 17(1) 220
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Facts About Hereditary Hemorrhagic Telangiectasia
CDC, June 2022
Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia.
Azma Roxana et al. Pediatric neurology 2022 12924-30
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Hereditary Hemorrhagic Telangiectasia: Success of the Osler Calendar for Documentation of Treatment and Course of Disease.
Seebauer Caroline T et al. Journal of clinical medicine 2021 10(20)
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Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy.
Suppressa Patrizia et al. Orphanet journal of rare diseases 2021 16(1) 378
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Beneficial Effects of Remote Medical Care for Patients with Hereditary Hemorrhagic Telangiectasia during the COVID-19 Pandemic.
Gaetani Eleonora et al. Journal of clinical medicine 2021 10(11)
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Healthcare Utilization and Costs associated with Hereditary Hemorrhagic Telangiectasia Patients in a Large US Claims Database.
Hasan Albitar Hasan Ahmad et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2021 5(1) 55-64
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A questionnaire-based survey to evaluate and improve the current HHT medical and social condition in Japan.
Arai Nobuhiko et al. Surgical neurology international 2020 11323
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Efficacy of Timolol in a Novel Intranasal Thermosensitive Gel for Hereditary Hemorrhagic Telangiectasia-Associated Epistaxis: A Randomized Clinical Trial.
Peterson Andrew M et al. JAMA otolaryngology-- head & neck surgery 2020 Sep
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Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado Tania et al. Cells 2020 Sep 9(9)
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An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study.
Al-Samkari Hanny et al. Haematologica 2020 Jul
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Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry.
Riera-Mestre Antoni et al. Orphanet journal of rare diseases 2019 14(1) 196
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Hereditary Haemorrhagic Telangiectasia: a disease not to be forgotten during the COVID-19 pandemic.
Gaetani Eleonora et al. Journal of thrombosis and haemostasis : JTH 2020 Apr
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Prevalence and diagnostic value of nail fold capillary microscopy in hereditary hemorrhagic telangiectasia: A retrospective study.
Kroon Steven et al. Vascular medicine (London, England) 2020 Apr 1358863X20910479
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Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation.
Martinent Guillaume et al. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020 Jan
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Future treatments for hereditary hemorrhagic telangiectasia.
Robert Florian et al. Orphanet journal of rare diseases 2020 Jan 15(1) 4
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Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis Athena et al. Haematologica 2018 103(9) 1433-1443
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Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.
Kim Donghyun et al. Neurointervention 2019 Sep 14(2) 91-98
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Local Coverage Determination (LCD): Diagnostic and Therapeutic Colonoscopy (L36868)
The U.S. Centers for Medicare & Medicaid Services
Local Coverage Determination (LCD): Diagnostic and Therapeutic Colonoscopy (L34213)
The U.S. Centers for Medicare & Medicaid Services
CLINGEN Actionability Report for Hereditary Hemorrhagic Telangiectasia - ENG, ACVRL1, SMAD4, GDF2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Juvenile polyposis syndrome - SMAD4, BMPR1A
ClinGen Actionability Working Group
Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
McDonald Jamie et al. American journal of medical genetics. Part A 2018 176(7) 1618-1621
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[Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].
Major Tamás et al. Orvosi hetilap 2019 May 160(18) 710-719
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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