Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas-Reference-Cited by-同舟云学术

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

Published:2013-10-25 Issue:1 Volume:80 Page:25-33
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

McInerney-Leo Aideen M.¹,Marshall Mhairi S.¹,Gardiner Brooke¹,Benn Diana E.²³,McFarlane Janelle¹,Robinson Bruce G.²³,Brown Matthew A.¹,Leo Paul J.¹,Clifton-Bligh Roderick J.²³,Duncan Emma L.¹⁴⁵

Affiliation:

1. The University of Queensland Diamantina Institute; Translational Research Institute; Princess Alexandra Hospital; Woolloongabba Brisbane Australia

2. Royal North Shore Hospital; The Kolling Institute; Sydney NSW Australia

3. University of Sydney; Sydney NSW Australia

4. Department of Endocrinology; Royal Brisbane and Women's Hospital; Brisbane Australia

5. UQ Centre for Clinical Research; The University of Queensland; Herston Qld Australia

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference38 articles.

1. phaeochromcytoma presenting as acute circulatory collapse and abdominal pain;Spencer;Intensive Care Medicine,1993

2. Clinical experience over 48 years with pheochromocytoma;Goldstein;Annals of Surgery,1999

3. Identification of the von Hippel-Lindau disease tumor suppressor gene;Latif;Science,1993

4. Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas;Mannelli;Journal of Clinical Endocrinology and Metabolism,2009

Cited by 37 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma;Cancers;2021-08-22

2. Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting;The European Journal of Health Economics;2021-03-25

3. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?;The Journal of Clinical Endocrinology & Metabolism;2020-12-24

4. Inherited Neuroendocrine Neoplasms;The Spectrum of Neuroendocrine Neoplasia;2020-10-20

5. Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening;Molecular Medicine Reports;2020-01-08