Publications:

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Multimodality Imaging Evaluation of Primary Right Atrial Paraganglioma: A Case Report and Literature Review.

Frontiers In Medicine

Huang, Wen-Peng WP; Gao, Ge G; Chen, Zhao Z; Qiu, Yong-Kang YK; Gao, Jian-Bo JB; Kang, Lei L

Publication Date: 2022

Variant appearance in text: SDHD: C11X

PubMed Link: 35847796

Variant Present in the following documents:

• fmed-09-942558.pdf

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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: SDHD: 33C>A; Cys11Ter

PubMed Link: 35441217

Variant Present in the following documents:

• Main text

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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: 33C>A; Cys11*

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

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The importance of genetic study and long-term management in patients with bilateral pheochromocytomas.

Archive Of Clinical Cases

Bellarbi, Dhiya Eddine DE; Chentli, Farida F

Publication Date: 2019

Variant appearance in text: SDHD: Cys11X

PubMed Link: 34754914

Variant Present in the following documents:

• Main text
• acc-06-04-85.pdf

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Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.

Hereditary Cancer In Clinical Practice

Ting, Kay Reen KR; Ong, Pei Yi PY; Wei, Samuel Ow Guan SOG; Parameswaran, Rajeev R; Khoo, Chin Meng CM; Deepak, Doddabele Srinivasa DS; Lee, Soo-Chin SC

Publication Date: 2020-12-11

Variant appearance in text: SDHD: Cys11*

PubMed Link: 33308260

Variant Present in the following documents:

• Main text
• 13053_2020_Article_156.pdf

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A Clinical Efficacy of PRRT in Patients with Advanced, Nonresectable, Paraganglioma-Pheochromocytoma, Related to SDHx Gene Mutation.

Journal Of Clinical Medicine

Kolasinska-Ćwikła, Agnieszka A; Pęczkowska, Mariola M; Ćwikła, Jarosław B JB; Michałowska, Ilona I; Pałucki, Jakub M JM; Bodei, Lisa L; Lewczuk-Myślicka, Anna A; Januszewicz, Andrzej A

Publication Date: 2019-06-30

Variant appearance in text: SDHD: C11X

PubMed Link: 31262070

Variant Present in the following documents:

• Main text
• jcm-08-00952.pdf

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal Of Medical Genetics

Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER

Publication Date: 2018-06

Variant appearance in text: SDHD: 33C>A; Cys11X

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

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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: 33C>A

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: 33C>A; Cys11Ter

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: 33C>A

PubMed Link: 27867439

Variant Present in the following documents:

• Main text
• poljradiol-81-510.pdf

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Mediastinal paragangliomas related to SDHx gene mutations.

Kardiochirurgia I Torakochirurgia Polska = Polish Journal Of Cardio-Thoracic Surgery

Michałowska, Ilona I; Ćwikła, Jarosław J; Prejbisz, Aleksander A; Kwiatek, Paweł P; Szperl, Małgorzata M; Michalski, Wojciech W; Wyrwicz, Lucjan L; Kuśmierczyk, Mariusz M; Januszewicz, Andrzej A; Maciejczyk, Anna A; Roszczynko, Marta M; Pęczkowska, Mariola M

Publication Date: 2016-09

Variant appearance in text: SDHD: 33C>A

PubMed Link: 27785149

Variant Present in the following documents:

• Main text
• KITP-13-28424.pdf

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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: C11*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.

International Journal Of Endocrinology

Martins, Rute R; Bugalho, Maria João MJ

Publication Date: 2014

Variant appearance in text: SDHD: Cys11X

PubMed Link: 24899893

Variant Present in the following documents:

• IJE2014-794187.pdf

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Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cellular Oncology : The Official Journal Of The International Society For Cellular Oncology

Hermsen, Mario A MA; Sevilla, María A MA; Llorente, José Luis JL; Weiss, Marjan M MM; Grimbergen, Anneliese A; Allonca, Eva E; Garcia-Inclán, Cristina C; Balbín, Milagros M; Suárez, Carlos C

Publication Date: 2010-01-01

Variant appearance in text: SDHD: 33C>A

PubMed Link: 20208144

Variant Present in the following documents:

• ACP-2010-32-4-312760.pdf

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Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

The Journal Of Clinical Endocrinology And Metabolism

Peczkowska, Mariola M; Erlic, Zoran Z; Hoffmann, Michael M MM; Furmanek, Mariusz M; Cwikla, Jaroslaw J; Kubaszek, Agata A; Prejbisz, Aleksander A; Szutkowski, Zbigniew Z; Kawecki, Andrzej A; Chojnowski, Krzysztof K; Lewczuk, Anna A; Litwin, Mieczyslaw M; Szyfter, Witold W; Walter, Martin A MA; Sullivan, Maren M; Eng, Charis C; Januszewicz, Andrzej A; Neumann, Hartmut P H HP

Publication Date: 2008-12

Variant appearance in text:

PubMed Link: 18826997

Variant Present in the following documents:

• Main text

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