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There are 8662 results for: content related to: Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

  1. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Version of Record online : 12 OCT 2015, DOI: 10.1002/humu.22904

  2. 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

  3. 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

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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

  5. Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 1–10, Arunkanth Ankala, Parag M. Tamhankar, C. Alexander Valencia, Krishna K. Rayam, Manisha M. Kumar and Madhuri R. Hegde

    Version of Record online : 27 NOV 2014, DOI: 10.1002/humu.22704

  6. MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 236–247, Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini and Anna Savoia

    Version of Record online : 12 DEC 2013, DOI: 10.1002/humu.22476

  7. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 139–147, Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, Maria Jose Coll, Richard Sinnott, Tarekegn Geberhiwot, Bruno Bembi and Andrea Dardis

    Version of Record online : 1 DEC 2015, DOI: 10.1002/humu.22923

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    Analysis of TP53 Mutation Status in Human Cancer Cell Lines: A Reassessment

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 756–765, Bernard Leroy, Luc Girard, Antoinette Hollestelle, John D. Minna, Adi F. Gazdar and Thierry Soussi

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22556

  9. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 521–531, Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy G. Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva-Lena Stattin, Jan Liebelt, Klaus-Michael Keller, Débora Romeo Bertola, Clara D.M. van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos A. Venegas-Vega, Nienke E. Verbeek, Erick J. Richmond, Özgür Kirbiyik, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad A. M. Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt and Martin Zenker

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22538

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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

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22561

  11. Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1205–1214, Cindy Lee, Tapahsama Banerjee, Jessica Gillespie, Amanda Ceravolo, Matthew R. Parvinsmith, Lea M. Starita, Stanley Fields, Amanda E. Toland and Jeffrey D. Parvin

    Version of Record online : 22 SEP 2015, DOI: 10.1002/humu.22902

  12. KIAA0586 is Mutated in Joubert Syndrome

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 831–835, Ruxandra Bachmann-Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A. Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, University of Washington Center for Mendelian Genomics, Jay Shendure and Dan Doherty

    Version of Record online : 2 JUL 2015, DOI: 10.1002/humu.22821

  13. Monitor lizards: a pan-African check-list of their zoogeography (Sauria: Varanidae: Polydaedalus)

    Journal of Biogeography

    Volume 29, Issue 12, December 2002, Pages: 1643–1701, Mark K. Bayless

    Version of Record online : 11 DEC 2002, DOI: 10.1046/j.1365-2699.2002.00779.x

  14. You have full text access to this OnlineOpen article
    Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia Coli Strain

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 704–711, Keigo Komine, Hideki Shimodaira, Masashi Takao, Hiroshi Soeda, Xiaofei Zhang, Masanobu Takahashi and Chikashi Ishioka

    Version of Record online : 18 JUN 2015, DOI: 10.1002/humu.22794

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    Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1187–1194, Jana Zernant, Frederick T. Collison, Winston Lee, Gerald A. Fishman, Kalev Noupuu, Bo Yuan, Carolyn Cai, James R. Lupski, Lawrence A. Yannuzzi, Stephen H. Tsang and Rando Allikmets

    Version of Record online : 25 SEP 2014, DOI: 10.1002/humu.22626

  16. STK11 Domain XI Mutations: Candidate Genetic Drivers Leading to the Development of Dysplastic Polyps in Peutz–Jeghers Syndrome

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 851–858, Zhiqing Wang, Baoping Wu, Rebecca A. Mosig, Yulan Chen, Fei Ye, Yali Zhang, Wei Gong, Lanbo Gong, Fei Huang, Xinying Wang, Biao Nie, Haoxuan Zheng, Miao Cui, Yadong Wang, Juan Wang, Chudi Chen, Alexandros D. Polydorides, David Y. Zhang, John A. Martignetti and Bo Jiang

    Version of Record online : 3 JUN 2014, DOI: 10.1002/humu.22549

  17. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

    Human Mutation

    Volume 37, Issue 11, November 2016, Pages: 1215–1222, Brenden Chen, Constanza Solis-Villa, Jörg Hakenberg, Wanqiong Qiao, Ramakrishnan R. Srinivasan, Makiko Yasuda, Manisha Balwani, Dana Doheny, Inga Peter, Rong Chen and Robert J. Desnick

    Version of Record online : 5 SEP 2016, DOI: 10.1002/humu.23067

  18. Mutation Update for UBE3A Variants in Angelman Syndrome

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1407–1417, Bekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, Patricia A. Ward, Irene Miloslavskaya, William Rhead, Richard Rosenbaum, Robert Gin, Benjamin Roa and Ping Fang

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22687

  19. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 927–936, Caroline Heintz, Richard G.H. Cotton and Nenad Blau

    Version of Record online : 1 MAY 2013, DOI: 10.1002/humu.22320

  20. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 43–51, Jan Lukas, Simone Scalia, Sabrina Eichler, Anne-Marie Pockrandt, Nicole Dehn, Claudia Cozma, Anne-Katrin Giese and Arndt Rolfs

    Version of Record online : 27 OCT 2015, DOI: 10.1002/humu.22910