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: H102R; rs104894302

PubMed Link: 36614070

Variant Present in the following documents:

• Main text
• ijms-24-00628.pdf

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34th European Congress of Pathology - Abstracts.

Virchows Archiv : An International Journal Of Pathology

Publication Date: 2022-08-16

Variant appearance in text: rs104894302

PubMed Link: 35972647

Variant Present in the following documents:

• Main text
• 428_2022_Article_3379.pdf

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Cancerization of ducts in hilar cholangiocarcinoma.

Virchows Archiv : An International Journal Of Pathology

Lee, Jae W JW; Zhang, Yang Y; Yoshizawa, Tadashi T; Argani, Pedram P; Wood, Laura D LD; Oshima, Kiyoko K

Publication Date: 2022-08

Variant appearance in text: rs104894302

PubMed Link: 35527321

Variant Present in the following documents:

• Main text
• 428_2022_Article_3379.pdf

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Integrative analysis of genomic and transcriptomic data of normal, tumour, and co-occurring leukoplakia tissue triads drawn from patients with gingivobuccal oral cancer identifies signatures of tumour initiation and progression.

The Journal Of Pathology

Ghosh, Arnab A; Das, Chitrarpita C; Ghose, Sandip S; Maitra, Arindam A; Roy, Bidyut B; Majumder, Partha P PP; Biswas, Nidhan K NK

Publication Date: 2022-08

Variant appearance in text: SDHD: H102R

PubMed Link: 35358331

Variant Present in the following documents:

• PATH-257-593-s003.xlsx, sheet 2

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Selected Conference Abstracts from "The Regulation of Proteostasis in Cancer".

Cell Death Discovery

Publication Date: 2020-04

Variant appearance in text: SDHD: H102R; rs104894302

PubMed Link: 33824417

Variant Present in the following documents:

• Main text
• 41420_2020_Article_248.pdf

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: SDHD: 305A>G; His102Arg

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 5

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Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Frontiers In Genetics

Snezhkina, Anastasiya V AV; Fedorova, Maria S MS; Pavlov, Vladislav S VS; Kalinin, Dmitry V DV; Golovyuk, Alexander L AL; Pudova, Elena A EA; Guvatova, Zulfiya G ZG; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Razmakhaev, George S GS; Poloznikov, Andrey A AA; Alekseeva, Galina S GS; Kaprin, Andrey D AD; Krasnov, George S GS; Kudryavtseva, Anna V AV

Publication Date: 2020

Variant appearance in text: SDHD: H102R; rs104894302

PubMed Link: 33391357

Variant Present in the following documents:

• Main text
• fgene-11-614908.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: 305A>G; His102Arg; rs104894302

PubMed Link: 32971818

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2020-09-18

Variant appearance in text: SDHD: H102R; rs104894302

PubMed Link: 32948195

Variant Present in the following documents:

• Main text
• 12920_2020_763_MOESM1_ESM.xls, sheet 8
• 12920_2020_763_MOESM1_ESM.xls, sheet 6

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Multiple paragangliomas: a case report.

Bmc Medical Genomics

Pavlov, Vladislav S VS; Kalinin, Dmitry V DV; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Lipatova, Anastasiya V AV; Guvatova, Zulfiya G ZG; Kaprin, Andrey D AD; Kiseleva, Marina V MV; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV; Kudryavtseva, Anna V AV

Publication Date: 2020-09-18

Variant appearance in text: SDHD: H102R; rs104894302

PubMed Link: 32948182

Variant Present in the following documents:

• Main text
• 12920_2020_Article_789.pdf

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Mutational load in carotid body tumor.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Zaretsky, Andrew R AR; Pokrovsky, Anatoly V AV; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Kharitonov, Sergey L SL; Pavlov, Vladislav S VS; Kobelyatskaya, Anastasiya A AA; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Polyakov, Andrey P AP; Alekseev, Boris Y BY; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2019-03-13

Variant appearance in text: SDHD: 305A>G; His102Arg; rs104894302

PubMed Link: 30871634

Variant Present in the following documents:

• Main text
• 12920_2019_Article_483.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs104894302

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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