Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Variant Spectrum of von Hippel-Lindau (VHL) disease and its genomic heterogeneity in Japan.

Human Molecular Genetics

Tamura, Kenji K; Kanazashi, Yuki Y; Kawada, Chiaki C; Sekine, Yuya Y; Maejima, Kazuhiro K; Ashida, Shingo S; Karashima, Takashi T; Kojima, Shohei S; Parrish, Nickolas F NF; Kosugi, Shunichi S; Terao, Chikashi C; Sasagawa, Shota S; Fujita, Masashi M; Johnson, Todd A TA; Momozawa, Yukihide Y; Inoue, Keiji K; Shuin, Taro T; Nakagawa, Hidewaki H

Publication Date: 2023-03-11

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 36905328

Variant Present in the following documents:

• Main text
• ddad039.pdf

View BVdb publication page

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: VHL: 500G>A; Arg167Gln; rs5030821

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

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Central nervous system hemangioblastomas in von Hippel-Lindau disease: Total growth rate and risk of developing new lesions not associated with circulating VEGF levels.

Plos One

Sundblom, Jimmy J; Skare, Tor Persson TP; Holm, Olivia O; Welin, Staffan S; Braun, Madelene M; Nilsson, Pelle P; Enblad, Per P; Sjöström, Elisabet Ohlin EO; Smits, Anja A

Publication Date: 2022

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 36441756

Variant Present in the following documents:

• Main text
• pone.0278166.pdf

View BVdb publication page

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VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.

Frontiers In Neurology

Li, Yaheng Y; Xin, Xiaohong X; Song, Wenzhu W; Zhang, Xuan X; Chen, Shengli S; Wang, Qian Q; Li, Aizhong A; Li, Yafeng Y

Publication Date: 2022

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 36324386

Variant Present in the following documents:

• Main text
• fneur-13-951054.pdf

View BVdb publication page

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Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.

Korean Journal Of Ophthalmology : Kjo

Lee, Sang Ha SH; Park, Kyu Hyung KH; Woo, Se Joon SJ; Park, Sang Jun SJ; Joo, Kwangsic K

Publication Date: 2022-10-25

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 36281577

Variant Present in the following documents:

• Main text
• kjo-2022-0079.pdf

View BVdb publication page

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Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.

Frontiers In Oncology

Tung, Moon Ley ML; Chandra, Bharatendu B; Dillahunt, Kyle K; Gosse, Matthew D MD; Sato, T Shawn TS; Sidhu, Alpa A

Publication Date: 2022

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 35875079

Variant Present in the following documents:

• Main text
• fonc-12-925582.pdf

View BVdb publication page

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Metastatic Pheochromocytoma Diagnosed with 131 I-MIBG SPECT/CT Imaging in a Patient with Pathogenic VHL Mutation.

World Journal Of Nuclear Medicine

Vankadari, Kousik K; Boddula, Raman R; Hegde, Aditya Gajanan AG; Chinte, Chimutai C

Publication Date: 2022-03

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 35502282

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1746177.pdf

View BVdb publication page

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VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.

Frontiers In Endocrinology

Mathó, Cecilia C; Fernández, María Celia MC; Bonanata, Jenner J; Liu, Xian-De XD; Martin, Ayelen A; Vieites, Ana A; Sansó, Gabriela G; Barontini, Marta M; Jonasch, Eric E; Coitiño, E Laura EL; Pennisi, Patricia Alejandra PA

Publication Date: 2022

Variant appearance in text: VHL: R167Q

PubMed Link: 35388293

Variant Present in the following documents:

• Main text
• fendo-13-854365.pdf

View BVdb publication page

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Familial multiple sclerosis in patients with Von Hippel-Lindau disease.

Bmc Neurology

Nath, Samir R SR; Grewal, Prabhjot P; Cho, Thomas T; Mao-Draayer, Yang Y

Publication Date: 2022-03-08

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 35260109

Variant Present in the following documents:

• Main text
• 12883_2022_Article_2604.pdf

View BVdb publication page

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The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes

Hudler, Petra P; Urbancic, Mojca M

Publication Date: 2022-02-17

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 35205407

Variant Present in the following documents:

• Main text
• genes-13-00362.pdf

View BVdb publication page

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Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer Cell International

Tong, Dali D; Zhang, Yao Y; Jiang, Jun J; Bi, Gang G

Publication Date: 2021-12-19

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 34923986

Variant Present in the following documents:

• Main text
• 12935_2021_Article_2386.pdf

View BVdb publication page

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Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.

Journal Of Medical Genetics

Zhang, Kenan K; Qiu, Jianhui J; Yang, Wuping W; Ma, Kaifang K; Li, Lei L; Xie, Haibiao H; Xu, Yawei Y; Gong, Yanqing Y; Zhou, Jingcheng J; Cai, Lin L; Gong, Kan K

Publication Date: 2022-10

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 34916234

Variant Present in the following documents:

• jmedgenet-2021-108216supp006.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: VHL: R167Q

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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The Endothelial Landscape and Its Role in Von Hippel-Lindau Disease.

Cells

de Rojas-P, Isabel I; Albiñana, Virginia V; Taranets, Lyudmyla L; Recio-Poveda, Lucía L; Cuesta, Angel M AM; Popov, Nikita N; Kronenberger, Thales T; Botella, Luisa M LM

Publication Date: 2021-09-04

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 34571962

Variant Present in the following documents:

• Main text
• cells-10-02313.pdf

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: VHL: 500G>A; R167Q

PubMed Link: 34439168

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Most Common VHL Point Mutation R167Q in Hereditary VHL Disease Interferes with Cell Plasticity Regulation.

Cancers

Buart, Stéphanie S; Terry, Stéphane S; Diop, M'boyba Khadija MK; Dessen, Philippe P; Couvé, Sophie S; Abdou, Abdérémane A; Adam, Julien J; Thiery, Jérôme J; Savagner, Pierre P; Chouaib, Salem S

Publication Date: 2021-08-02

Variant appearance in text: VHL: R167Q

PubMed Link: 34359798

Variant Present in the following documents:

• Main text
• cancers-13-03897.pdf

View BVdb publication page

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Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease.

International Journal Of Endocrinology And Metabolism

Mir Saeid Ghazi, Ali Asghar AA; Amouzegar, Atieh A; Zadeh-Vakili, Azita A; Sheikh Rezaei, Abdolreza A; Amirbaigloo, Alireza A; Zarif Yeganeh, Marjan M; Hashemi, Hasan H; Azizi, Fereidoun F

Publication Date: 2021-04

Variant appearance in text: VHL: R167Q

PubMed Link: 34149843

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Direct Comparison of Patients With Hereditary and Sporadic Pancreatic Neuroendocrine Tumors: Evaluation of Clinical Course, Prognostic Factors and Genotype-Phenotype Correlations.

Frontiers In Endocrinology

Soczomski, Przemysław P; Jurecka-Lubieniecka, Beata B; Krzywon, Aleksandra A; Cortez, Alexander Jorge AJ; Zgliczynski, Stanisław S; Rogozik, Natalia N; Oczko-Wojciechowska, Małgorzata M; Pawlaczek, Agnieszka A; Bednarczuk, Tomasz T; Jarzab, Barbara B

Publication Date: 2021

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 34122352

Variant Present in the following documents:

• Main text
• fendo-12-681013.pdf

View BVdb publication page

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Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome.

Endocrine

Penitenti, F F; Landoni, L L; Scardoni, M M; Piredda, M L ML; Cingarlini, S S; Scarpa, A A; D'Onofrio, M M; Girelli, D D; Davi, M V MV

Publication Date: 2021-10

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 34036514

Variant Present in the following documents:

• Main text
• 12020_2021_Article_2752.pdf

View BVdb publication page

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Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma.

Frontiers In Endocrinology

Gao, Shuai S; Liu, Longfei L; Li, Zhuolin Z; Pang, Yingxian Y; Shi, Jiaqi J; Zhu, Feizhou F

Publication Date: 2021

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 33828526

Variant Present in the following documents:

• Main text
• fendo-12-598656.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: VHL: 500G>A

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: VHL: 500G>A; R167Q

PubMed Link: 33362715

Variant Present in the following documents:

• Main text

View BVdb publication page

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The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.

Frontiers In Endocrinology

Peng, Song S; Zhang, Jun J; Tan, Xintao X; Huang, Yiqiang Y; Xu, Jing J; Silk, Natalie N; Zhang, Dianzheng D; Liu, Qiuli Q; Jiang, Jun J

Publication Date: 2020

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 33329393

Variant Present in the following documents:

• Main text
• fendo-11-586857.pdf

View BVdb publication page

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One

Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW

Publication Date: 2020

Variant appearance in text: VHL: R167Q

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

View BVdb publication page

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The prefoldin complex stabilizes the von Hippel-Lindau protein against aggregation and degradation.

Plos Genetics

Chesnel, Franck F; Couturier, Anne A; Alusse, Adrien A; Gagné, Jean-Philippe JP; Poirier, Guy G GG; Jean, Dominique D; Boisvert, François-Michel FM; Hascoet, Pauline P; Paillard, Luc L; Arlot-Bonnemains, Yannick Y; Le Goff, Xavier X

Publication Date: 2020-11

Variant appearance in text: VHL: R167Q

PubMed Link: 33137104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: VHL: R167Q

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Clinical decision making in small non-functioning VHL-related incidentalomas.

Endocrine Connections

Därr, Roland R; Kater, Jonas J; Sekula, Peggy P; Bausch, Birke B; Krauss, Tobias T; Bode, Christoph C; Walz, Gerd G; Neumann, Hartmut P HP; Zschiedrich, Stefan S

Publication Date: 2020-08

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 32869749

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees.

Experimental And Therapeutic Medicine

Lin, Guobing G; Zhao, Yihua Y; Zhang, Zhewei Z; Zhang, Huijiang H

Publication Date: 2020-08

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 32742360

Variant Present in the following documents:

• Main text
• etm-20-02-1237.pdf

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and epigenetic alterations in pancreatic neuroendocrine tumors.

Journal Of Gastrointestinal Oncology

Tirosh, Amit A; Kebebew, Electron E

Publication Date: 2020-06

Variant appearance in text: VHL: R167Q

PubMed Link: 32655936

Variant Present in the following documents:

• Main text

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: VHL: 500G>A; Arg167Gln

PubMed Link: 32561571

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106145.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: VHL: R167Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Acta Ophthalmologica

Hajjaj, Anass A; van Overdam, Koen A KA; Oldenburg, Rogier A RA; Koopmans, Anna E AE; van den Ouweland, Ans M W AMW; de Klein, Annelies A; Kiliç, Emine E

Publication Date: 2020-01-30

Variant appearance in text: VHL: 500G>A

PubMed Link: 32003155

Variant Present in the following documents:

• Main text
• AOS-98-464.pdf
• AOS-98-464-s002.pdf

View BVdb publication page

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Clear cell chondrosarcoma in Von Hippel-Lindau disease.

Familial Cancer

Dreijerink, Koen M A KMA; van Leeuwaarde, Rachel S RS; Hackeng, Wenzel M WM; Giles, Rachel H RH; de Leng, Wendy W J WWJ; Jutte, Paul C PC; Suurmeijer, Albert J H AJH; van Nesselrooij, Bernadette P M BPM; Brosens, Lodewijk A A LAA

Publication Date: 2020-01

Variant appearance in text: VHL: Arg167Gln

PubMed Link: 31673890

Variant Present in the following documents:

• Main text
• 10689_2019_Article_149.pdf

View BVdb publication page

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Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.

Frontiers In Genetics

Hong, Baoan B; Ma, Kaifang K; Zhou, Jingcheng J; Zhang, Jiufeng J; Wang, Jiangyi J; Liu, Shengjie S; Zhang, Zhongyuan Z; Cai, Lin L; Zhang, Ning N; Gong, Kan K

Publication Date: 2019

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 31620170

Variant Present in the following documents:

• Main text

View BVdb publication page

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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations.

Journal Of The Endocrine Society

Fagundes, Gustavo F C GFC; Petenuci, Janaina J; Lourenco, Delmar M DM; Trarbach, Ericka B EB; Pereira, Maria Adelaide A MAA; Correa D'Eur, Joya Emilie JE; Hoff, Ana O AO; Lerario, Antonio M AM; Zerbini, Maria Claudia N MCN; Siqueira, Sheila S; Yamauchi, Fernando F; Srougi, Victor V; Tanno, Fabio Y FY; Chambo, Jose Luis JL; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Fragoso, Maria Candida B V MCBV; Almeida, Madson Q MQ

Publication Date: 2019-09-01

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 31528828

Variant Present in the following documents:

• Main text
• js.2019-00225.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: VHL: 500G>A; R167Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open

Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,

Publication Date: 2019-08-02

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VHL: 500G>A; Arg167Gln

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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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: VHL: 500G>A; Arg167Gln

PubMed Link: 31212687

Variant Present in the following documents:

• Main text

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