Publications:

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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

Snezhkina, Anastasiya A; Fedorova, Maria M; Kobelyatskaya, Anastasiya A; Markova, Daria D; Lantsova, Margarita M; Ikonnikova, Anna A; Emelyanova, Marina M; Kalinin, Dmitry D; Pudova, Elena E; Melnikova, Nataliya N; Dmitriev, Alexey A; Krasnov, George G; Pavlov, Vladislav V; Kudryavtseva, Anna A

Publication Date: 2022-12-30

Variant appearance in text: SDHD: Q109X

PubMed Link: 36614070

Variant Present in the following documents:

• Main text
• ijms-24-00628.pdf

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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Journal Of Kidney Cancer And Vhl

Yalcintepe, Sinem S; Gurkan, Hakan H; Korkmaz, Fatma Nur FN; Demir, Selma S; Atli, Engin E; Eker, Damla D; Guler, Hazal Sezginer HS; Zhuri, Drenusha D; Atli, Emine Ikbal EI; Salt, Semra Ayturk SA; Sahin, Mustafa M; Guldiken, Sibel S

Publication Date: 2021

Variant appearance in text: SDHD: 325C>T; Gln109Term

PubMed Link: 33777662

Variant Present in the following documents:

• Main text
• JKCVHL-8-019.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: Gln109*

PubMed Link: 33308260

Variant Present in the following documents:

• Main text
• 13053_2020_Article_156.pdf

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A PATIENT WITH AN ATYPIC NECK MASS LESION.

Acta Endocrinologica (Bucharest, Romania : 2005)

Korkmaz, F N FN; Gokcay Canpolat, A A; Bilezikci, B B; Gurkan, H H; Erdogan, M F MF

Publication Date: 2020

Variant appearance in text: SDHD: 325C>T; Gln109Term

PubMed Link: 33029241

Variant Present in the following documents:

• Main text

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Glutaminases as a Novel Target for SDHB-Associated Pheochromocytomas/Paragangliomas.

Cancers

Sarkadi, Balazs B; Meszaros, Katalin K; Krencz, Ildiko I; Canu, Letizia L; Krokker, Lilla L; Zakarias, Sara S; Barna, Gabor G; Sebestyen, Anna A; Papay, Judit J; Hujber, Zoltan Z; Butz, Henriett H; Darvasi, Otto O; Igaz, Peter P; Doczi, Judit J; Luconi, Michaela M; Chinopoulos, Christos C; Patocs, Attila A

Publication Date: 2020-03-05

Variant appearance in text: PGL: Q109X

PubMed Link: 32150977

Variant Present in the following documents:

• Main text
• cancers-12-00599.pdf

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Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Head & Neck

Amodru, Vincent V; Romanet, Pauline P; Scemama, Ugo U; Montava, Marion M; Fakhry, Nicolas N; Sebag, Frédéric F; Castinetti, Frédéric F; Lavieille, Jean-Pierre JP; Loundou, Anderson A; Varoquaux, Arthur A; Barlier, Anne A; Pacak, Karel K; Taïeb, David D

Publication Date: 2019-06

Variant appearance in text: SDHD: 325C>T

PubMed Link: 30584686

Variant Present in the following documents:

• Main text

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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: 325C>T

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1
• nihms-1505462.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: 325C>T; Gln109X

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: 325C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.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: Q109*

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: Q109X

PubMed Link: 24899893

Variant Present in the following documents:

• IJE2014-794187.pdf

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SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

Journal Of Internal Medicine

Pasini, B B; Stratakis, C A CA

Publication Date: 2009-07

Variant appearance in text: PGL: Gln109X

PubMed Link: 19522823

Variant Present in the following documents:

• Main text

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Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

Head & Neck

Marvin, Monica L ML; Bradford, Carol R CR; Sisson, James C JC; Gruber, Stephen B SB

Publication Date: 2009-05

Variant appearance in text: SDHD: Q109X

PubMed Link: 19072999

Variant Present in the following documents:

• Main text

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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: SDHD: Gln109X

PubMed Link: 18826997

Variant Present in the following documents:

• Main text

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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: Q109X

PubMed Link: 11897817

Variant Present in the following documents:

• Main text

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