Publications:

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Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Endocrine-Related Cancer

Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G

Publication Date: 2022-03-21

Variant appearance in text: SDHD: 49C>T

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

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Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.

Endocrinology And Metabolism (Seoul, Korea)

Choi, Heewon H; Kim, Kyoung Jin KJ; Hong, Namki N; Shin, Saeam S; Choi, Jong-Rak JR; Kang, Sang Wook SW; Lee, Seung Tae ST; Rhee, Yumie Y

Publication Date: 2020-12

Variant appearance in text: SDHD: 49C>T

PubMed Link: 33397040

Variant Present in the following documents:

• Main text

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: SDHD: 49C>T

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.pdf

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Cancers

Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B

Publication Date: 2019-06-11

Variant appearance in text: SDHD: 49C>T

PubMed Link: 31212687

Variant Present in the following documents:

• Main text
• cancers-11-00809.pdf

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

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

Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B

Publication Date: 2019-03

Variant appearance in text: PGL: 49C>T

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1

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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: 49C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

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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: PGL: R17*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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