Germline mutations and genotype–phenotype associations in head and neck paraganglioma patients with negative family history in China-Reference-Cited by-同舟云学术

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Germline mutations and genotype–phenotype associations in head and neck paraganglioma patients with negative family history in China

Published:2015-09 Issue:9 Volume:58 Page:433-438
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zhu W.D.,Wang Z.Y.,Chai Y.C.,Wang X.W.,Chen D.Y.,Wu H.

Funder

Natural Science Foundation of China

Shanghai municipal hospital

Shanghai Municipal Science and Technology Commission

China Postdoctoral Science Foundation

Natural Science Foundation of Shanghai, China

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference31 articles.

1. Altitude is aphenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect;Astrom;Hum. Genet.,2003

2. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma;Astuti;Am. J. Hum. Genet.,2001

3. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss;Badenhop;Genes. Chromosom. Cancer,2001

4. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency;Bayley;BMC Med. Genet.,2005

5. Clinical and molecular progress in hereditary paraganglioma;Baysal;J. Med. Genet.,2008

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1. Algorithm of genetic diagnosis for patients with head and neck paraganglioma—update;Frontiers in Neurology;2024-08-29

2. Proteomic characterization of head and neck paraganglioma and its molecular classification;Frontiers in Molecular Neuroscience;2024-08-21

3. Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma;Journal of the Endocrine Society;2024-02-29

4. Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta‐analysis of individual patients' data;Head & Neck;2024-01-25

5. High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma;Translational Oncology;2021-08

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