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There are 10000 results for: content related to: Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR 7) is Caused by Variants in TPP1 , The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN 2 Disease)

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    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 42–63, Maria Kousi, Anna-Elina Lehesjoki and Sara E. Mole

    Version of Record online : 16 NOV 2011, DOI: 10.1002/humu.21624

  2. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1

    Human Mutation

    Volume 37, Issue 11, November 2016, Pages: 1190–1201, Jacqueline Stella, Insa Buers, Koen van de Wetering, Wolfgang Höhne, Frank Rutsch and Yvonne Nitschke

    Version of Record online : 23 AUG 2016, DOI: 10.1002/humu.23057

  3. NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 178–186, Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Nevo, Evelyne Huynh-Cong, Vincent Morinière, Raphaëlle Campait, Elisabet Ars, Damien Brackman, Jacques Dantal, Philippe Eckart, Maddalena Gigante, Beata S. Lipska, Aurélia Liutkus, André Megarbane, Nabil Mohsin, Fatih Ozaltin, Moin A. Saleem, Franz Schaefer, Kenza Soulami, Roser Torra, Nicolas Garcelon, Géraldine Mollet, Karin Dahan and Corinne Antignac

    Version of Record online : 9 DEC 2013, DOI: 10.1002/humu.22485

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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. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

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    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

  7. 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

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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

  9. 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

  10. 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

  11. 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

  12. 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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    WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 7–15, Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kivanc Cefle, Sukru Palanduz, Sukru Ozturk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth Streeten, Raul E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler and Junko Oshima

    Version of Record online : 7 OCT 2016, DOI: 10.1002/humu.23128

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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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    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

  16. Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1688–1697, Heidi Larkin, Maria Gil Ribeiro and Christine Lavoie

    Version of Record online : 10 OCT 2013, DOI: 10.1002/humu.22443

  17. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 165–177, Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, Elio Esposito, Maria Giuseppina Miano, Maria Brigida Lioi, Maeve A. McAleer, Giuliana Giardino, Claudio Pignata, Alan D. Irvine, Angela E. Scheuerle, Ghislaine Royer, Smail Hadj-Rabia, Christine Bodemer, Jean-Paul Bonnefont, Arnold Munnich, Asma Smahi, Julie Steffann, Francesca Fusco and Matilde Valeria Ursini

    Version of Record online : 12 DEC 2013, DOI: 10.1002/humu.22483

  18. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1329–1339, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çağman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çağdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel and Jacinta Bustamante

    Version of Record online : 8 AUG 2013, DOI: 10.1002/humu.22380

  19. The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 317–329, Michael L. Nickerson, Allen D. Bosley, Jayne S. Weiss, Brittany N. Kostiha, Yoshihisa Hirota, Wolfgang Brandt, Dominic Esposito, Shigeru Kinoshita, Ludger Wessjohann, Scott G. Morham, Thorkell Andresson, Howard S. Kruth, Toshio Okano and Michael Dean

    Version of Record online : 27 NOV 2012, DOI: 10.1002/humu.22230

    Corrected by:

    Erratum: The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes

    Vol. 34, Issue 7, 1046, Version of Record online: 30 APR 2013

  20. 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