No difference in phenotype of the main DutchSDHDfounder mutations-Reference-Cited by-同舟云学术

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No difference in phenotype of the main DutchSDHDfounder mutations

Published:2013-05-11 Issue:6 Volume:79 Page:824-831
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

van Hulsteijn L. T.¹,den Dulk A. C.¹,Hes F. J.²,Bayley J. P.³,Jansen J. C.⁴,Corssmit E. P. M.¹

Affiliation:

1. Department of Endocrinology and Metabolic Diseases; Leiden University Medical Center; Leiden The Netherlands

2. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

4. Department ofOtorhinolargyngology; Leiden University Medical Center; Leiden The Netherlands

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference35 articles.

1. Genetic testing in pheochromocytoma or functional paraganglioma;Amar;Journal of Clinical Oncology,2005

2. The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features;Badenhop;Journal of Medical Genetics,2004

3. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma;Astuti;American Journal of Human Genetics,2001

4. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma;Baysal;Science,2000

5. SDHA is a tumor suppressor gene causing paraganglioma;Burnichon;Human Molecular Genetics,2010

Cited by 9 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. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants;The Lancet Diabetes & Endocrinology;2023-05

2. The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR;International Journal of Molecular Sciences;2022-12-30

3. Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis;Journal of Medical Genetics;2019-10-24

4. Biochemically silent sympathetic Paraganglioma, Pheochromocytoma or Metastatic Disease in SDHD mutation carriers;The Journal of Clinical Endocrinology & Metabolism;2019-06-13

5. Higher risk of phaeochromocytoma/paraganglioma (Phaeo‐Pgl) in SDHD than SDHB carriers: an Australian cohort study;Internal Medicine Journal;2019-04

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