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There are 7178 results for: content related to: Genotype–phenotype correlations in VHL exon deletions

  1. 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

    Article first published online : 11 MAR 2009, DOI: 10.1002/humu.20948

  2. Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

    Human Mutation

    Volume 28, Issue 6, June 2007, Pages: 613–621, Alberto Cascón, Beatriz Escobar, Cristina Montero-Conde, Cristina Rodríguez-Antona, Sergio Ruiz-Llorente, Ana Osorio, Fátima Mercadillo, Rocío Letón, José M. Campos, José M. García-Sagredo, Javier Benítez, Marcos Malumbres and Mercedes Robledo

    Article first published online : 20 FEB 2007, DOI: 10.1002/humu.20496

  3. 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

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

  4. You have full text access to this OnlineOpen article
    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

    Article first published online : 4 APR 2011, DOI: 10.1111/j.1469-1809.2011.00647.x

  5. 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

    Article first published online : 24 FEB 2006, DOI: 10.1002/ajmg.a.31116

  6. 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

    Article first published online : 4 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00827.x

  7. You have free access to this content
    Genotype–phenotype correlations in von Hippel-Lindau disease

    Human Mutation

    Volume 28, Issue 2, February 2007, Pages: 143–149, Kai Ren Ong, Emma R. Woodward, Pip Killick, Caron Lim, Fiona Macdonald and Eamonn R. Maher

    Article first published online : 5 OCT 2006, DOI: 10.1002/humu.20385

  8. Neurofibromatosis type 2 and von Hippel-Lindau disease: From gene cloning to function


    Volume 15, Issue 3, November 1995, Pages: 297–307, Nikolai Kley, Jean Whaley and Bernd R. Seizinger

    Article first published online : 12 OCT 2004, DOI: 10.1002/glia.440150310

  9. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

    Human Mutation

    Volume 8, Issue 4, 1996, Pages: 348–357, Berton Zbar, Takeshi Kishida, Fan Chen, Laura Schmidt, Eamonn R. Maher, Frances M. Richards, Paul A. Crossey, Andrew R. Webster, Nabeel A. Affara, Malcolm A. Ferguson-Smith, Hiltrud Brauch, Damjan Glavac, Hartmut P.H. Neumann, Sam Tisherman, John J. Mulvihill, David J. Gross, Taro Shuin, Jean Whaley, Berndt Seizinger, Nickolai Kley, Sylviane Olschwang, Cecile Boisson, Stephane Richard, C.H.M. Lips, W. Marston Linehan and Michael Lerman

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3

  10. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

    Human Mutation

    Volume 12, Issue 6, 1998, Pages: 424–430, Sylviane Olschwang, Stéphane Richard, Cécile Boisson, Sophie Giraud, Pierre Laurent-Puig, François Resche and Gilles Thomas

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H

  11. Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations

    Human Mutation

    Volume 23, Issue 2, February 2004, Pages: 160–169, Sergio Ruiz-Llorente, Jerónimo Bravo, Arancha Cebrián, Alberto Cascón, Marina Pollan, Dolores Tellería, Rocío Letón, Miguel Urioste, Raquel Rodríguez-López, Jose M. de Campos, María J. Muñoz, Carmen Lacambra, Javier Benítez and Mercedes Robledo

    Article first published online : 24 DEC 2003, DOI: 10.1002/humu.10309

  12. 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

    Article first published online : 7 FEB 2002, DOI: 10.1002/gcc.10054

  13. 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

    Article first published online : 22 APR 2013, DOI: 10.1002/emmm.201202231

  14. 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

    Article first published online : 26 JUL 2004, DOI: 10.1002/humu.20082

  15. Regulation of E2F1 by the von Hippel–Lindau tumour suppressor protein predicts survival in renal cell cancer patients

    The Journal of Pathology

    Volume 231, Issue 1, September 2013, Pages: 117–129, Dorus A Mans, Joost S Vermaat, Bart G Weijts, Ellen van Rooijen, Jeroen van Reeuwijk, Karsten Boldt, Laura GM Daenen, Petra van der Groep, Benjamin D Rowland, Judith J Jans, Ronald Roepman, Emile E Voest, Paul J van Diest, Marianne C Verhaar, Alain de Bruin and Rachel H Giles

    Article first published online : 6 AUG 2013, DOI: 10.1002/path.4219

  16. Associations between VHL genotype and clinical phenotype in familial von Hippel–Lindau disease

    European Journal of Clinical Investigation

    Volume 37, Issue 6, June 2007, Pages: 492–500, J. S. Huang, C. J. Huang, S. K. Chen, C. C. Chien, C. W. Chen and C. M. Lin

    Article first published online : 26 MAY 2007, DOI: 10.1111/j.1365-2362.2007.01806.x

  17. You have full text access to this OnlineOpen article
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas

    International Journal of Cancer

    Volume 77, Issue 3, 29 July 1998, Pages: 337–340, E. van der Harst, R. R. de Krijger, W. N. M. Dinjens, L. E. Weeks, H. J. Bonjer, H. A. Bruining, S. W. J. Lamberts and J. W. Koper

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1097-0215(19980729)77:3<337::AID-IJC5>3.0.CO;2-P

  18. 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

    Article first published online : 31 MAR 2011, DOI: 10.1002/gcc.20865

  19. You have open access to this content
    Germ-line Mutation Analysis in Patients with von Hippel-Lindau Disease in Japan: An Extended Study of 77 Families

    Cancer Science

    Volume 91, Issue 2, February 2000, Pages: 204–212, Minoru Yoshida, Shingo Ashida, Keiichi Kondo, Kazuki Kobayashi, Hiroshi Kanno, Nobuo Shinohara, Nobuyuki Shitara, Takeshi Kishida, Satoshi Kawakami, Masaya Baba, Isao Yamamoto, Masahiko Hosaka, Taro Shuin and Masahiro Yao

    Article first published online : 22 AUG 2005, DOI: 10.1111/j.1349-7006.2000.tb00933.x

  20. You have full text access to this OnlineOpen article
    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

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