Publications:

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: SDHD: 112C>T; Arg38Term; rs80338843

PubMed Link: 35966080

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 5

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: SDHD: 112C>T; Arg38Ter

PubMed Link: 35668420

Variant Present in the following documents:

• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers

Yonamine, Masato M; Wasano, Koichiro K; Aita, Yuichi Y; Sugasawa, Takehito T; Takahashi, Katsutoshi K; Kawakami, Yasushi Y; Shimano, Hitoshi H; Nishiyama, Hiroyuki H; Hara, Hisato H; Naruse, Mitsuhide M; Okamoto, Takahiro T; Matsuda, Tadashi T; Kosugi, Shinji S; Horiguchi, Kazuhiko K; Tanabe, Akiyo A; Watanabe, Atsushi A; Kimura, Noriko N; Nakamura, Eijiro E; Sakurai, Akihiro A; Shiga, Kiyoto K; Takekoshi, Kazuhiro K

Publication Date: 2021-08-09

Variant appearance in text: SDHD: 112C>T

PubMed Link: 34439168

Variant Present in the following documents:

• Main text
• cancers-13-04014.pdf

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Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.

Biomedicines

Guha, Anasuya A; Vicha, Ales A; Zelinka, Tomas T; Musil, Zdenek Z; Chovanec, Martin M

Publication Date: 2021-05-31

Variant appearance in text: SDHD: 112C>T

PubMed Link: 34072806

Variant Present in the following documents:

• Main text
• biomedicines-09-00626.pdf

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Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.

International Journal Of Molecular Sciences

Snezhkina, Anastasiya V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Stepanov, Oleg A OA; Poloznikov, Andrey A AA; Demidova, Tatiana B TB; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Kudryavtseva, Anna V AV

Publication Date: 2020-09-22

Variant appearance in text: SDHD: 112C>T; Arg38*; rs80338843

PubMed Link: 32971818

Variant Present in the following documents:

• Main text
• ijms-21-06950.pdf

View BVdb publication page

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Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Journal Of Medical Genetics

Bao, Minghui M; Li, Ping P; Li, Qifu Q; Chen, Hui H; Zhong, Ying Y; Li, Shuangyue S; Jin, Ling L; Wang, Wenjie W; Chen, Zhenzhen Z; Zhong, Jiuchang J; Geng, Bin B; Fan, Yuxin Y; Yang, Xinchun X; Cai, Jun J

Publication Date: 2020-08

Variant appearance in text: SDHD: 112C>T

PubMed Link: 32561571

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106145supp001.pdf

View BVdb publication page

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Exome analysis of carotid body tumor.

Bmc Medical Genomics

Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV

Publication Date: 2018-02-13

Variant appearance in text: SDHD: 112C>T; Arg38*; rs80338843

PubMed Link: 29504908

Variant Present in the following documents:

• Main text
• 12920_2018_Article_327.pdf
• 12920_2018_327_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHD: 112C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHD: 112C>T; Arg38Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Polish Journal Of Radiology

Michałowska, Ilona I; Lewczuk, Anna A; Ćwikła, Jarosław J; Prejbisz, Aleksander A; Swoboda-Rydz, Urszula U; Furmanek, Mariusz I MI; Szperl, Małgorzata M; Januszewicz, Andrzej A; Pęczkowska, Mariola M

Publication Date: 2016

Variant appearance in text: SDHD: 112C>T

PubMed Link: 27867439

Variant Present in the following documents:

• Main text
• poljradiol-81-510.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SDHD: 112C>T; R38*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Imaging findings of malignant bilateral carotid body tumors: A case report and review of the literature.

Oncology Letters

Lv, Han H; Chen, Xiaohong X; Zhou, Shuai S; Cui, Suping S; Bai, Yunlong Y; Wang, Zhenchang Z

Publication Date: 2016-04

Variant appearance in text: SDHD: R38X

PubMed Link: 27073498

Variant Present in the following documents:

• Main text

View BVdb publication page

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15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer

Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ

Publication Date: 2015-08

Variant appearance in text: SDHD: R38*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

Endocrine-Related Cancer

Lodish, Maya B MB; Adams, Karen T KT; Huynh, Thanh T TT; Prodanov, Tamara T; Ling, Alex A; Chen, Clara C; Shusterman, Suzanne S; Jimenez, Camilo C; Merino, Maria M; Hughes, Marybeth M; Cradic, Kendall W KW; Milosevic, Dragana D; Singh, Ravinder J RJ; Stratakis, Constantine A CA; Pacak, Karel K

Publication Date: 2010-09

Variant appearance in text: SDHD: Arg38X

PubMed Link: 20418362

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Journal Of Medical Genetics

Baysal, B E BE; Willett-Brozick, J E JE; Lawrence, E C EC; Drovdlic, C M CM; Savul, S A SA; McLeod, D R DR; Yee, H A HA; Brackmann, D E DE; Slattery, W H WH; Myers, E N EN; Ferrell, R E RE; Rubinstein, W S WS

Publication Date: 2002-03

Variant appearance in text: SDHD: R38X

PubMed Link: 11897817

Variant Present in the following documents:

• Main text

View BVdb publication page

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