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There are 8999 results for: content related to: MouseFinder: Candidate disease genes from mouse phenotype data

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    Mouse genetic and phenotypic resources for human genetics

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 826–836, Paul N. Schofield, Robert Hoehndorf and Georgios V. Gkoutos

    Article first published online : 13 APR 2012, DOI: 10.1002/humu.22077

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    Ontological phenotype standards for neurogenetics

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1333–1339, Sebastian Köhler, Sandra C. Doelken, Ana Rath, Ségolène Aymé and Peter N. Robinson

    Article first published online : 2 JUL 2012, DOI: 10.1002/humu.22112

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    ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 837–848, Bernard de Bono, Pierre Grenon and Stephen John Sammut

    Article first published online : 6 APR 2012, DOI: 10.1002/humu.22065

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    The Facial Evolution: Looking Backward and Moving Forward

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 14–22, Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Hugh Dawkins, David Gillett and Jack Goldblatt

    Article first published online : 2 NOV 2012, DOI: 10.1002/humu.22219

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    PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 566–571, Ada Hamosh, Nara Sobreira, Julie Hoover-Fong, V. Reid Sutton, Corinne Boehm, François Schiettecatte and David Valle

    Article first published online : 4 MAR 2013, DOI: 10.1002/humu.22283

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    TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 672–688, Bernard Leroy, Martha Anderson and Thierry Soussi

    Article first published online : 20 MAY 2014, DOI: 10.1002/humu.22552

  7. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 706–713, Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Rob M. Verdijk, Marjolein Kriek, Ben Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg and Anneke J.A. Maat-Kievit

    Article first published online : 11 MAR 2013, DOI: 10.1002/humu.22292

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

  9. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 967–973, Annet Sollie, Rolf H. Sijmons, Dick Lindhout, Ans T. van der Ploeg, M. Estela Rubio Gozalbo, G. Peter A. Smit, Frans Verheijen, Hans R. Waterham, Sonja van Weely, Frits A. Wijburg, Rudolph Wijburg and Gepke Visser

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22316

  10. Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 998–1010, Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball Jr., Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, Ali Mortazavi, Silvère M. van der Maarel and Kyoko Yokomori

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22593

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    Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22341

  12. Corneal Dystrophy-Causing SLC4A11 Mutants: Suitability for Folding-Correction Therapy

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1082–1091, Sampath K. Loganathan and Joseph R. Casey

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22601

  13. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 986–996, Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves and Francesco Muntoni

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22326

  14. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1449–1457, Catherine L. Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Hugh Dawkins, Anna Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, Craig Campbell, Yi Dai, Nina Barišić, Tea Kos, Petr Brabec, Jes Rahbek, Jaana Lahdetie, Sylvie Tuffery-Giraud, Mireille Claustres, France Leturcq, Rabah Ben Yaou, Maggie C. Walter, Olivia Schreiber, Veronika Karcagi, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Isis de la caridad Guerrero Sarmiento, Anna Ambrosini, Francesca Ceradini, En Kimura, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Jorge Oliveira, Rosário Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana Milic Rasic, Manuel Posada, Francesc Palau, Björn Lindvall, Clemens Bloetzer, Ayşe Karaduman, Haluk Topaloğlu, Serap Inal, Piraye Oflazer, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly Peay, Kevin M. Flanigan, David Salgado, Brigitta von Rekowski, Stephen Lynn, Emma Heslop, Sabina Gainotti, Domenica Taruscio, Jan Kirschner, Jan Verschuuren, Kate Bushby, Christophe Béroud and Hanns Lochmüller

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22390

  15. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22354

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    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1679–1687, Anneke T. Vulto-van Silfhout, Jayne Y. Hehir-Kwa, Bregje W.M. van Bon, Janneke H.M. Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw and Bert B.A. de Vries

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22442

  17. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Article first published online : 7 AUG 2013, DOI: 10.1002/humu.22379

  18. Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 200–209, Melissa van Kranenburg, Marianne Hoogeveen-Westerveld and Mark Nellist

    Article first published online : 27 NOV 2014, DOI: 10.1002/humu.22723

  19. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22550

  20. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Article first published online : 1 MAY 2014, DOI: 10.1002/humu.22554