Somatic mosaicism inACVRL1with transmission to several offspring affected with severe pulmonary arterial hypertension-Reference-Cited by-同舟云学术

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Somatic mosaicism inACVRL1with transmission to several offspring affected with severe pulmonary arterial hypertension

Published:2014-04-21 Issue:8 Volume:164 Page:2121-2123
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jones Gabriela¹,Robertson Lisa¹,Harrison Rachel²,Ridout Cheryl³,Vasudevan Pradeep¹

Affiliation:

1. Clinical Genetics Department; University Hospitals Leicester NHS Trust; Leicester United Kingdom

2. Clinical Genetics Department; Nottingham University Hospitals NHS Trust; Nottingham United Kingdom

3. DNA Laboratory; Guy's Hospital; London United Kingdom

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36568/fullpdf

Reference27 articles.

1. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia;Abdalla;Eur Respir J,2004

2. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension;Austin;Circ Cardiovasc Genet,2012

3. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients;Best;J Med Genet,2011

4. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension;Chaouat;Thorax,2004

5. Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension;Chida;Circ J,2012

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1. Treatment of pulmonary hypertension in patients with Hereditary Hemorrhagic Telangiectasia – A case series and systematic review;Pulmonary Pharmacology & Therapeutics;2021-06

2. AI (Artificial Intelligence) and Hypertension Research;Current Hypertension Reports;2020-08-27

3. Molecular Research in Chronic Thromboembolic Pulmonary Hypertension;International Journal of Molecular Sciences;2019-02-12

4. Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report;Vojnosanitetski pregled;2016

5. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects;Human Mutation;2015-10-12

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