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There are 7196 results for: content related to: Genotype–phenotype correlations in VHL exon deletions

  1. Inactivation of the von Hippel–Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL-independent pathway in clear cell renal tumourigenesis

    Genes, Chromosomes and Cancer

    Volume 22, Issue 3, July 1998, Pages: 200–209, Steven C. Clifford, Amanda H. Prowse, Nabeel A. Affara, Charles H. C. M. Buys and Eamonn R. Maher

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199807)22:3<200::AID-GCC5>3.0.CO;2-#

  2. You have full text access to this OnlineOpen article
    Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice

    EMBO Molecular Medicine

    Volume 5, Issue 6, June 2013, Pages: 949–964, Joachim Albers, Michal Rajski, Désirée Schönenberger, Sabine Harlander, Peter Schraml, Adriana von Teichman, Strahil Georgiev, Peter J. Wild, Holger Moch, Wilhelm Krek and Ian J. Frew

    Version of Record online : 22 APR 2013, DOI: 10.1002/emmm.201202231

  3. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

    Clinical Genetics

    Volume 72, Issue 2, August 2007, Pages: 122–129, FJ Hes, RB van der Luijt, ALW Janssen, RA Zewald, GJ de Jong, JW Lenders, TP Links, GPM Luyten, RH Sijmons, HJ Eussen, DJJ Halley, CJM Lips, PL Pearson, AMW van den Ouweland and DF Majoor-Krakauer

    Version of Record online : 4 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00827.x

  4. The von Hippel–Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 685–690, Mary-Alice Abbott, Katherine L. Nathanson, Simon Nightingale, Eamonn R. Maher and Robert M. Greenstein

    Version of Record online : 24 FEB 2006, DOI: 10.1002/ajmg.a.31116

  5. Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: Relationship to clinicopathological parameters

    Genes, Chromosomes and Cancer

    Volume 34, Issue 1, May 2002, Pages: 58–68, Keiichi Kondo, Masahiro Yao, Minoru Yoshida, Takeshi Kishida, Taro Shuin, Takeshi Miura, Masatoshi Moriyama, Kazuki Kobayashi, Naoki Sakai, Shigeki Kaneko, Satoshi Kawakami, Masaya Baba, Noboru Nakaigawa, Yoji Nagashima, Yukio Nakatani and Masahiko Hosaka

    Version of Record online : 7 FEB 2002, DOI: 10.1002/gcc.10054

  6. You have free access to this content
    Hypoxia-inducible transcription factor 2α promotes steatohepatitis through augmenting lipid accumulation, inflammation, and fibrosis

    Hepatology

    Volume 54, Issue 2, August 2011, Pages: 472–483, Aijuan Qu, Matthew Taylor, Xiang Xue, Tsutomu Matsubara, Daniel Metzger, Pierre Chambon, Frank J. Gonzalez and Yatrik M. Shah

    Version of Record online : 26 JUN 2011, DOI: 10.1002/hep.24400

  7. Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype–phenotype correlations in VHL patients

    Human Mutation

    Volume 30, Issue 5, May 2009, Pages: 776–786, Gerlind Franke, Birke Bausch, Michael M. Hoffmann, Markus Cybulla, Christian Wilhelm, Jürgen Kohlhase, Gerd Scherer and Hartmut P.H. Neumann

    Version of Record online : 11 MAR 2009, DOI: 10.1002/humu.20948

  8. Copy number profiling in von hippel-lindau disease renal cell carcinoma

    Genes, Chromosomes and Cancer

    Volume 50, Issue 7, July 2011, Pages: 479–488, Salwati Shuib, Wenbin Wei, Hariom Sur, Mark R. Morris, Dominic McMullan, Eleanor Rattenberry, Esther Meyer, Patrick H. Maxwell, Takeshi Kishida, Masahiro Yao, Farida Latif and Eamonn R. Maher

    Version of Record online : 31 MAR 2011, DOI: 10.1002/gcc.20865

  9. You have free access to this content
    Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas

    International Journal of Cancer

    Volume 105, Issue 2, 10 June 2003, Pages: 190–195, Hilde Dannenberg, Ronald R. De Krijger, Erwin van der Harst, Mustaffa Abbou, Ynske IJzendoorn, Paul Komminoth and Winand N.M. Dinjens

    Version of Record online : 5 MAR 2003, DOI: 10.1002/ijc.11060

  10. You have free access to this content
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population

    Annals of Human Genetics

    Volume 75, Issue 4, July 2011, Pages: 483–496, Emanuela Leonardi, Maddalena Martella, Silvio C.E. Tosatto and Alessandra Murgia

    Version of Record online : 4 APR 2011, DOI: 10.1111/j.1469-1809.2011.00647.x

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    Systemic VHL gene functions and the VHL disease

    FEBS Letters

    Volume 586, Issue 11, June 04, 2012, Pages: 1562–1569, Hannah L. Bader and Tien Hsu

    Version of Record online : 25 APR 2012, DOI: 10.1016/j.febslet.2012.04.032

  12. You have full text access to this OnlineOpen article
    Deletion of the von Hippel–Lindau gene causes sympathoadrenal cell death and impairs chemoreceptor-mediated adaptation to hypoxia

    EMBO Molecular Medicine

    Volume 6, Issue 12, December 2014, Pages: 1577–1592, David Macías, Mary Carmen Fernández-Agüera, Victoria Bonilla-Henao and José López-Barneo

    Version of Record online : 10 NOV 2014, DOI: 10.15252/emmm.201404153

  13. You have free access to this content
    Inactivation of Vhl in Osteochondral Progenitor Cells Causes High Bone Mass Phenotype and Protects Against Age-Related Bone Loss in Adult Mice

    Journal of Bone and Mineral Research

    Volume 29, Issue 4, April 2014, Pages: 820–829, Tujun Weng, Yangli Xie, Junlan Huang, Fengtao Luo, Lingxian Yi, Qifen He, Di Chen and Lin Chen

    Version of Record online : 19 MAR 2014, DOI: 10.1002/jbmr.2087

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    Endoplasmic reticulum/cytosolic localization of von Hippel-Lindau gene products is mediated by a 64–amino acid region

    International Journal of Cancer

    Volume 91, Issue 4, 15 February 2001, Pages: 457–467, Alan R. Schoenfeld, Eliot J. Davidowitz and Robert D. Burk

    Version of Record online : 9 MAR 2001, DOI: 10.1002/1097-0215(20010215)91:4<457::AID-IJC1072>3.0.CO;2-P

  15. Mosaicism in von Hippel–Lindau disease with severe renal manifestations

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 581–584, P Wu, N Zhang, X Wang, T Li, X Ning, D Bu and K Gong

    Version of Record online : 5 FEB 2013, DOI: 10.1111/cge.12092

  16. You have free access to this content
    Vascular endothelial growth factor overexpression is correlated with von Hippel-Lindau tumor suppressor gene inactivation in patients with sporadic renal cell carcinoma

    Cancer

    Volume 95, Issue 1, 1 July 2002, Pages: 47–53, Hiroshi Igarashi, Mariko Esumi, Hajime Ishida and Kiyoki Okada

    Version of Record online : 28 JUN 2002, DOI: 10.1002/cncr.10635

  17. Von Hippel-Lindau disease

    Microscopy Research and Technique

    Volume 60, Issue 2, 1 February 2003, Pages: 159–164, Toshiaki Sano and Hidehisa Horiguchi

    Version of Record online : 21 JAN 2003, DOI: 10.1002/jemt.10253

  18. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Version of Record online : 22 OCT 2013, DOI: 10.1002/humu.22448

  19. Genotype–phenotype correlation in von Hippel-Lindau families with renal lesions

    Human Mutation

    Volume 24, Issue 3, September 2004, Pages: 215–224, Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Benoît, Pierre Colombeau, Jean-Pierre Grünfeld, Claudine Junien and Christophe Béroud

    Version of Record online : 26 JUL 2004, DOI: 10.1002/humu.20082

  20. Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma

    Genes, Chromosomes and Cancer

    Volume 53, Issue 1, January 2014, Pages: 38–51, Lucy Gossage, Muhammed Murtaza, Andrew F. Slatter, Conrad P. Lichtenstein, Anne Warren, Beverley Haynes, Francesco Marass, Ian Roberts, Susan J. Shanahan, Andreas Claas, Andrew Dunham, Andrew P. May, Nitzan Rosenfeld, Tim Forshew and Tim Eisen

    Version of Record online : 29 OCT 2013, DOI: 10.1002/gcc.22116