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Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
Dwivedi, Aradhana, Moirangthem, Amita, Pandey, Himani, Sharma, Pankaj, Srivastava, Priyanka, Yadav, Prabhaker, Saxena, Deepti, Phadke, Shubha, Dabadghao, Preeti, Gupta, Neerja, Kabra, Madhulika, Goyal, Rekha, Biswas, Rituparna, Mangaraj, Swayamsidha, Bhar, Debarati, Chowdhury, Subhankar, Agarwal, Amit, Mandal, Kausik
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
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Journal Article
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)
Tomasic, N. L., Piterkova, L., Huff, C., Bilic, E., Yoon, D., Miasnikova, G. Y., Sergueeva, A. I., Niu, X., Nekhai, S., Gordeuk, V., Prchal, J. T.
Published in Haematologica (Roma) (01.04.2013)
Published in Haematologica (Roma) (01.04.2013)
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Journal Article
SETD2 deficiency promotes renal fibrosis through the TGF‐β/Smad signalling pathway in the absence of VHL
Liu, Changwei, Ni, Li, Li, Xiaoxue, Rao, Hanyu, Feng, Wenxin, Zhu, Yiwen, Zhang, Wei, Ma, Chunxiao, Xu, Yue, Gui, Liming, Wang, Ziyi, Aji, Rebiguli, Xu, Jin, Gao, Wei‐Qiang, Li, Li
Published in Clinical and translational medicine (01.11.2023)
Published in Clinical and translational medicine (01.11.2023)
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Journal Article
Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease
Mori, Gustavo H., Fagundes, Gustavo F. C., Santana, Lucas S., Freitas-Castro, Felipe, Afonso, Ana Caroline F., Lourenço Jr, Delmar M., Pereira, Maria Adelaide A., Tanno, Fabio Y., Srougi, Victor, Chambo, Jose L., Cordeiro, Mauricio D., Nahas, William C., Hoff, Ana O., Fragoso, Maria Candida B. V., Mendonca, Berenice B., Latronico, Ana Claudia, Almeida, Madson Q.
Published in Archives of Endocrinology and Metabolism (01.01.2025)
Published in Archives of Endocrinology and Metabolism (01.01.2025)
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Journal Article
Under-expression of VHL and over-expression of HDAC-1, HIF-1α, LL-37, and IAP-2 in affected skin biopsies of patients with psoriasis
Tovar-Castillo, Laura E., Cancino-Díaz, Juan C., García-Vázquez, Francisco, Cancino-Gómez, Francisco G., León-Dorantes, Gladys, Blancas-González, Fernando, Jiménez-Zamudio, Luis, García-Latorre, Ethel, Cancino-Díaz, Mario E.
Published in International journal of dermatology (01.03.2007)
Published in International journal of dermatology (01.03.2007)
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Journal Article
Pilot study of dovitinib in patients with VHL disease
Pilie, Patrick Glen, Matin, Surena F., Woodson, Ashley Henriksen, Marcott, Valerie D., Bird, Shelly, Slack, Rebecca, Fuller, Greg, McCutcheon, Ian E., Jonasch, Eric
Published in Journal of clinical oncology (10.01.2016)
Published in Journal of clinical oncology (10.01.2016)
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Journal Article
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
Srirangalingam, Umasuthan, Khoo, Bernard, Walker, Lisa, MacDonald, Fiona, Skelly, Robert H, George, Emad, Spooner, David, Johnston, Linda B, Monson, John P, Grossman, Ashley B, Drake, W M, Akker, Scott A, Pollard, Patrick J, Plowman, Nick, Avril, Norbert, Berney, Daniel M, Burrin, Jacky M, Reznek, Rodney H, Kumar, V K Ajith, Maher, Eamonn R, Chew, Shern L
Published in Endocrine-related cancer (01.06.2009)
Published in Endocrine-related cancer (01.06.2009)
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Journal Article
Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation
Peri, Suraj, Caretti, Elena, Tricarico, Rossella, Devarajan, Karthik, Cheung, Mitchell, Sementino, Eleonora, Menges, Craig W., Nicolas, Emmanuelle, Vanderveer, Lisa A., Howard, Sharon, Conrad, Peggy, Crowell, James A., Campbell, Kerry S., Ross, Eric A., Godwin, Andrew K., Yeung, Anthony T., Clapper, Margie L., Uzzo, Robert G., Henske, Elizabeth P., Ricketts, Christopher J., Vocke, Cathy D., Linehan, W. Marston, Testa, Joseph R., Bellacosa, Alfonso, Kopelovich, Levy, Knudson, Alfred G.
Published in Oncotarget (14.03.2017)
Published in Oncotarget (14.03.2017)
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Journal Article
The polymorphisms in the VHL and HIF1A genes are associated with the prognosis but not the development of renal cell carcinoma
Qin, C., Cao, Q., Ju, X., Wang, M., Meng, X., Zhu, J., Yan, F., Li, P., Ding, Q., Chen, J., Gu, M., Zhang, W., Yin, C., Zhang, Z.
Published in Annals of oncology (01.04.2012)
Published in Annals of oncology (01.04.2012)
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Journal Article
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event
Liu, Enli, Percy, Melanie J., Amos, Christopher I., Guan, Yongli, Shete, Sanjay, Stockton, David W., McMullin, Mary F., Polyakova, Lydia A., Ang, Sonny O., Pastore, Yves D., Jedlickova, Katerina, Lappin, TerryR.J., Gordeuk, Victor, Prchal, Josef T.
Published in Blood (01.03.2004)
Published in Blood (01.03.2004)
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Journal Article
A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)
Duggal, Nisha, Singh, Namrata, Sachdev, Suchet, Singh, Avinash Kumar, Hira, Jasbir Kaur, Chhabra, Sanjeev, Bansal, Deepak, Malhotra, Pankaj, Varma, Neelam, Das, Reena, Sharma, Prashant
Published in Indian journal of hematology & blood transfusion (01.04.2024)
Published in Indian journal of hematology & blood transfusion (01.04.2024)
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Journal Article
VHL
Published in Oxford Dictionary of Biochemistry and Molecular Biology
(01.01.2006)
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Reference
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
Bender, Bernhard U, Eng, Charis, Olschewski, Manfred, Berger, Dietmar P, Laubenberger, Jörg, Altehöfer, Carsten, Kirste, Günter, Orszagh, Miro, van Velthoven, Vera, Miosczka, Henning, Schmidt, Dieter, Neumann, Hartmut P H
Published in Journal of medical genetics (01.08.2001)
Published in Journal of medical genetics (01.08.2001)
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Journal Article