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Human Mutation

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Special Issue: Special Issue: Assessing Mutation Pathogenicity in Cancer Susceptibility Genes

November 2008

Volume 29, Issue 11

Pages 1261–1372, E263–E309

Issue edited by: Marc Greenblatt, Sean Tavtigian

  1. Overview

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
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      Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group (pages 1261–1264)

      Sean V. Tavtigian, Marc S. Greenblatt, David E. Goldgar and Paolo Boffetta

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20903

  2. Special Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
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      Genetic evidence and integration of various data sources for classifying uncertain variants into a single model (pages 1265–1272)

      David E. Goldgar, Douglas F. Easton, Graham B. Byrnes, Amanda B. Spurdle, Edwin S. Iversen and Marc S. Greenblatt

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20897

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      Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes (pages 1273–1281)

      Marc S. Greenblatt, Lawrence C. Brody, William D. Foulkes, Maurizio Genuardi, Robert M.W. Hofstra, Magali Olivier, Sharon E. Plon, Rolf H. Sijmons, Olga Sinilnikova and Amanda B. Spurdle

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20889

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      Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results (pages 1282–1291)

      Sharon E. Plon, Diana M. Eccles, Douglas Easton, William D. Foulkes, Maurizio Genuardi, Marc S. Greenblatt, Frans B.L. Hogervorst, Nicoline Hoogerbrugge, Amanda B. Spurdle and Sean V. Tavtigian

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20880

  3. Reviews

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
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      Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance (pages 1292–1303)

      Robert M.W. Hofstra, Amanda B. Spurdle, Diana Eccles, William D. Foulkes, Niels de Wind, Nicoline Hoogerbrugge and Frans B.L. Hogervorst

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20894

  4. Special Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
    1. You have free access to this content
      Prediction and assessment of splicing alterations: implications for clinical testing (pages 1304–1313)

      Amanda B. Spurdle, Fergus J. Couch, Frans B.L. Hogervorst, Paolo Radice and Olga M. Sinilnikova

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20901

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      Assessment of functional effects of unclassified genetic variants (pages 1314–1326)

      Fergus J. Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N.A. Monteiro, Marc S. Greenblatt and Niels de Wind

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20899

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      In silico analysis of missense substitutions using sequence-alignment based methods (pages 1327–1336)

      Sean V. Tavtigian, Marc S. Greenblatt, Fabienne Lesueur and Graham B. Byrnes

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20892

  5. Databases

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
    1. You have free access to this content
      A database to support the interpretation of human mismatch repair gene variants (pages 1337–1341)

      Jianghua Ou, Renée C. Niessen, Jan Vonk, Helga Westers, Robert M.W. Hofstra and Rolf H. Sijmons

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20907

  6. Research Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
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    2. You have free access to this content
      Mechanisms of pathogenicity in human MSH2 missense mutants (pages 1355–1363)

      Saara Ollila, Denis Dermadi Bebek, Josef Jiricny and Minna Nyström

      Article first published online: 24 OCT 2008 | DOI: 10.1002/humu.20893

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  7. Database in Brief

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
    1. You have free access to this content
      A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia (pages E263–E270)

      Ilenia Boria, Paola Quarello, Federica Avondo, Emanuela Garelli, Anna Aspesi, Adriana Carando, Maria Francesca Campagnoli, Irma Dianzani and Ugo Ramenghi

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20864

  8. Mutations in Brief

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Special Articles
    6. Databases
    7. Research Articles
    8. Database in Brief
    9. Mutations in Brief
    1. You have free access to this content
      Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome (pages E205–E219)

      Diane Beysen, Sarah De Jaegere, David Amor, Philippe Bouchard, Sophie Christin-Maitre, Marc Fellous, Philippe Touraine, Arthur W. Grix, Raoul Hennekam, Françoise Meire, Nina Oyen, Louise C. Wilson, Dalit Barel, Jill Clayton-Smith, Thomy de Ravel, Christian Decock, Patricia Delbeke, Regina Ensenauer, Friedrich Ebinger, Gabriele Gillessen-Kaesbach, Yvonne Hendriks, Virginia Kimonis, Rachel Laframboise, Paul Laissue, Kathleen Leppig, Bart P. Leroy, David T. Miller, David Mowat, Luitgard Neumann, Astrid Plomp, Nicole Van Regemorter, Dagmar Wieczorek, Reiner A. Veitia, Anne De Paepe and Elfride De Baere

      Article first published online: 18 JUL 2008 | DOI: 10.1002/humu.20819

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      Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles (pages E220–E230)

      Serena Grossi, Stefano Regis, Camillo Rosano, Fabio Corsolini, Graziella Uziel, Maria Sessa, Maja Di Rocco, Giancarlo Parenti, Federica Deodato, Vincenzo Leuzzi, Roberta Biancheri and Mirella Filocamo

      Article first published online: 8 AUG 2008 | DOI: 10.1002/humu.20851

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      Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East (pages E231–E241)

      M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-Vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns and Christopher A. Walsh

      Article first published online: 27 AUG 2008 | DOI: 10.1002/humu.20844

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      TCF4 Deletions in Pitt-Hopkins Syndrome (pages E242–E251)

      Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michele Mathieu-Dramard, Gilles Morin, Dominique Martin-Coignard, Christèle Dubourg, Brigitte Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens and Anne Moncla

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20859

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      Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status (pages E252–E262)

      Stine A. Danielsen, Guro E. Lind, Merete Bjørnslett, Gunn I. Meling, Torleiv O. Rognum, Sverre Heim and Ragnhild A. Lothe

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20860

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      Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients (pages E271–E277)

      Mayumi Enya, Yukio Horikawa, Eiji Kuroda, Kayoko Yonemaru, Naoko Tonooka, Hideaki Tomura, Naohisa Oda, Norihide Yokoi, Kazuya Yamagata, Nobuyuki Shihara, Katsumi Iizuka, Toshiji Saibara, Susumu Seino and Jun Takeda

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20865

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      Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma (pages E278–E283)

      Alexander Wyatt, Preeti Bakrania, David J. Bunyan, Robert J. Osborne, John A. Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury-Ecob, Y. Abou-Rayyah, J. Richard O. Collin, David Robinson and Nicola Ragge

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20869

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      Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders (pages E284–E295)

      Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, Jean-Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, Marc Sznajder, Mireille Claustres, Claudine Junien, Clarisse Baumann, Valérie Cormier-Daire, Marlène Rio, Stanislas Lyonnet, Henri Plauchu, Didier Lacombe, Bertrand Chevallier, Guillaume Jondeau and Catherine Boileau

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20871

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      MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system (pages E296–E309)

      Laura Belvederesi, Francesca Bianchi, Eva Galizia, Cristian Loretelli, Raffaella Bracci, Romina Catalani, Monica Amati and Riccardo Cellerino

      Article first published online: 9 SEP 2008 | DOI: 10.1002/humu.20875

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