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There are 2897270 results for: content related to: APC promoter 1B deletion in familial polyposis—implications for mutation-negative families

  1. Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis

    Genes, Chromosomes and Cancer

    Volume 53, Issue 10, October 2014, Pages: 857–864, Walter Pavicic, Taina T. Nieminen, Annette Gylling, Juha-Pekka Pursiheimo, Asta Laiho, Attila Gyenesei, Heikki J. Järvinen and Päivi Peltomäki

    Article first published online : 19 JUN 2014, DOI: 10.1002/gcc.22197

  2. APC promoter 1B deletion in seven American families with familial adenomatous polyposis

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 360–365, A.K. Snow, T.M.F. Tuohy, N.R. Sargent, L.J. Smith, R.W. Burt and D.W. Neklason

    Article first published online : 14 OCT 2014, DOI: 10.1111/cge.12503

  3. You have free access to this content
    Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

    International Journal of Cancer

    Volume 122, Issue 6, 15 March 2008, Pages: 1422–1425, Jordi Romero-Giménez, Higinio Dopeso, Ignacio Blanco, Angel Guerra-Moreno, Sara Gonzalez, Stefanie Vogt, Stefan Aretz, Simo Schwartz Jr, Gabriel Capella and Diego Arango

    Article first published online : 20 NOV 2007, DOI: 10.1002/ijc.23247

  4. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study

    Human Mutation

    Volume 25, Issue 2, February 2005, Pages: 125–134, Geneviève Michils, Sabine Tejpar, Reinhilde Thoelen, Eric van Cutsem, Joris Robert Vermeesch, Jean-Pierre Fryns, Eric Legius and Gert Matthijs

    Article first published online : 10 JAN 2005, DOI: 10.1002/humu.20122

  5. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas

    Clinical Genetics

    Volume 76, Issue 3, September 2009, Pages: 242–255, B Filipe, C Baltazar, C Albuquerque, S Fragoso, P Lage, I Vitoriano, S Mão de Ferro, I Claro, P Rodrigues, P Fidalgo, P Chaves, M Cravo and C Nobre Leitão

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01241.x

  6. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1045–1050, Isabel Spier, Sukanya Horpaopan, Stefanie Vogt, Siegfried Uhlhaas, Monika Morak, Dietlinde Stienen, Markus Draaken, Michael Ludwig, Elke Holinski-Feder, Markus M. Nöthen, Per Hoffmann and Stefan Aretz

    Article first published online : 16 APR 2012, DOI: 10.1002/humu.22082

  7. MUTYH-associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations

    Clinical Genetics

    Volume 78, Issue 4, October 2010, Pages: 353–363, M Morak, A Laner, U Bacher, C Keiling and E Holinski-Feder

    Article first published online : 10 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01478.x

  8. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  9. You have free access to this content
    Large genomic rearrangements and germline epimutations in Lynch syndrome

    International Journal of Cancer

    Volume 124, Issue 10, 15 May 2009, Pages: 2333–2340, Annette Gylling, Maaret Ridanpää, Outi Vierimaa, Kristiina Aittomäki, Kristiina Avela, Helena Kääriäinen, Hannele Laivuori, Minna Pöyhönen, Satu-Leena Sallinen, Carina Wallgren-Pettersson, Heikki J. Järvinen, Jukka-Pekka Mecklin and Paivi Peltomäki

    Article first published online : 18 DEC 2008, DOI: 10.1002/ijc.24230

  10. You have free access to this content
    Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients

    International Journal of Cancer

    Volume 118, Issue 8, 15 April 2006, Pages: 1937–1940, Anna M. Russell, Jian Zhang, Judith Luz, Pierre Hutter, Pierre O. Chappuis, Claudine Rey Berthod, Philippe Maillet, Hansjakob Mueller and Karl Heinimann

    Article first published online : 14 NOV 2005, DOI: 10.1002/ijc.21470

  11. Investigation of disease-associated factors in haemophilia A patients without detectable mutations

    Haemophilia

    Volume 18, Issue 3, May 2012, Pages: e132–e137, C. HALLDÉN, K. E. KNOBE, E. SJÖRIN, D. NILSSON and R. LJUNG

    Article first published online : 4 JAN 2012, DOI: 10.1111/j.1365-2516.2011.02737.x

  12. You have free access to this content
    Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families

    Human Mutation

    Volume 24, Issue 6, December 2004, Page: 534, Carolin Hartmann, Anika L. John, Rüdiger Klaes, Wera Hofmann, Rainer Bielen, Rolf Koehler, Bart Janssen, Claus R. Bartram, Norbert Arnold and Johannes Zschocke

    Article first published online : 5 NOV 2004, DOI: 10.1002/humu.9291

  13. MECP2 deletions and genotype–phenotype correlation in Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2775–2784, Elisa Scala, Ilaria Longo, Federica Ottimo, Caterina Speciale, Katia Sampieri, Eleni Katzaki, Rosangela Artuso, Maria Antonietta Mencarelli, Tatiana D'Ambrogio, Giuseppina Vonella, Michele Zappella, Giuseppe Hayek, Agatino Battaglia, Francesca Mari, Alessandra Renieri and Francesca Ariani

    Article first published online : 29 OCT 2007, DOI: 10.1002/ajmg.a.32002

  14. Genetic testing for hereditary colorectal cancer in children: Long-term psychological effects

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 2, 15 January 2003, Pages: 117–128, Ann-Marie Codori, Kristin L. Zawacki, Gloria M. Petersen, Diana L. Miglioretti, Judith A. Bacon, Jill D. Trimbath, Susan V. Booker, Kimberly Picarello and Francis M. Giardiello

    Article first published online : 12 SEP 2002, DOI: 10.1002/ajmg.a.10926

  15. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 38–46, C Mongin, F Coulet, JH Lefevre, C Colas, M Svrcek, M Eyries, Y Lahely, J-F Fléjou, F Soubrier and Y Parc

    Article first published online : 4 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01676.x

  16. Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

    The Journal of Pathology

    Volume 234, Issue 4, December 2014, Pages: 436–440, Miriam J Smith, Andrew J Wallace, Chris Bennett, Martin Hasselblatt, Ewelina Elert-Dobkowska, Linton T Evans, William F Hickey, Jack van Hoff, David Bauer, Amy Lee, Robert F Hevner, Christian Beetz, Daniel du Plessis, John-Paul Kilday, William G Newman and D Gareth Evans

    Article first published online : 6 OCT 2014, DOI: 10.1002/path.4427

  17. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Article first published online : 19 JUN 2012, DOI: 10.1002/mds.25051

  18. Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene

    Journal of Clinical Laboratory Analysis

    Wybrich R. Cnossen, Jake S.F. Maurits, Jody Salomon, René H.M. te Morsche, Esmé Waanders and Joost P. H. Drenth

    Article first published online : 13 SEP 2015, DOI: 10.1002/jcla.21875

  19. Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients

    Genes, Chromosomes and Cancer

    Volume 49, Issue 2, February 2010, Pages: 99–106, L. F. Thean, C. Loi, K. S. Ho, P. K. Koh, K. W. Eu and P. Y. Cheah

    Article first published online : 21 OCT 2009, DOI: 10.1002/gcc.20724

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    MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

    International Journal of Cancer

    Volume 119, Issue 4, 15 August 2006, Pages: 807–814, Stefan Aretz, Siegfried Uhlhaas, Heike Goergens, Kirsten Siberg, Matthias Vogel, Constanze Pagenstecher, Elisabeth Mangold, Reiner Caspari, Peter Propping and Waltraut Friedl

    Article first published online : 23 MAR 2006, DOI: 10.1002/ijc.21905