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There are 5016 results for: content related to: Drastic Effect of Germline TP53 Missense Mutations in Li–Fraumeni Patients

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    TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 689–701, Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

    Version of Record online : 14 MAR 2014, DOI: 10.1002/humu.22514

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    Germline TP53 Mutations and the Changing Landscape of Li–Fraumeni Syndrome

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 654–662, Junne Kamihara, Huma Q. Rana and Judy E. Garber

    Version of Record online : 20 MAY 2014, DOI: 10.1002/humu.22559

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    The Mdm Network and Its Regulation of p53 Activities: A Rheostat of Cancer Risk

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 728–737, Christine M. Eischen and Guillermina Lozano

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22524

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    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  5. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  6. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

  7. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1547–1557, Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frébourg, Mario Tosi and Alexandra Martins

    Version of Record online : 18 SEP 2013, DOI: 10.1002/humu.22428

  8. Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history

    Human Mutation

    Kelvin César de Andrade, Lisa Mirabello, Douglas R. Stewart, Eric Karlins, Roelof Koster, Mingyi Wang, Susan M. Gapstur, Mia M. Gaudet, Neal D. Freedman, Maria Teresa Landi, Nathanaël Lemonnier, Pierre Hainaut, Sharon A. Savage and Maria Isabel Achatz

    Version of Record online : 21 SEP 2017, DOI: 10.1002/humu.23320

  9. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 640–652, Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H. M. Knoll and Peter K. Rogan

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22972

  10. Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1283–1298, Dario Veneziano, Sebastiano Di Bella, Giovanni Nigita, Alessandro Laganà, Afredo Ferro and Carlo M. Croce

    Version of Record online : 5 SEP 2016, DOI: 10.1002/humu.23066

  11. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 489–495, Roberta R. Lemos, Eliana M. Ramos, Andrea Legati, Gaël Nicolas, Emma M. Jenkinson, John H. Livingston, Yanick J. Crow, Dominique Campion, Giovanni Coppola and João R. M. Oliveira

    Version of Record online : 6 APR 2015, DOI: 10.1002/humu.22778

  12. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  13. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22213

  14. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22279

  15. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 343–356, Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23164

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    Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 64–77, Rossella Tricarico, Mariann Kasela, Cristina Mareni, Bryony A. Thompson, Aurélie Drouet, Lucia Staderini, Greta Gorelli, Francesca Crucianelli, Valentina Ingrosso, Jukka Kantelinen, Laura Papi, Maria De Angioletti, Margherita Berardi, Pascaline Gaildrat, Omar Soukarieh, Daniela Turchetti, Alexandra Martins, Amanda B. Spurdle, Minna Nyström, Maurizio Genuardi and InSiGHT Variant Interpretation Committee

    Version of Record online : 17 OCT 2016, DOI: 10.1002/humu.23117

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    Can We Afford to Sequence Every Newborn Baby's Genome?

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 283–286, Jacques S. Beckmann

    Version of Record online : 13 MAR 2015, DOI: 10.1002/humu.22748

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    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Version of Record online : 11 FEB 2014, DOI: 10.1002/humu.22506

  19. Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 873–881, Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter

    Version of Record online : 28 MAR 2013, DOI: 10.1002/humu.22300

  20. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 894–904, Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22304