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There are 6211 results for: content related to: Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

  1. You have free access to this content
    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

  2. 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

  3. Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 157–166, Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith and Karen Usdin

    Article first published online : 4 OCT 2012, DOI: 10.1002/humu.22177

  4. On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 524–534, Marharyta Petukh, Tugba G. Kucukkal and Emil Alexov

    Article first published online : 6 APR 2015, DOI: 10.1002/humu.22770

  5. Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype–Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1506–1513, Seung-Hyun Bae, Nahid G. Robertson, Hyun-Ju Cho, Cynthia C. Morton, Da Jung Jung, Jeong-In Baek, Soo-Young Choi, Jaetae Lee, Kyu-Yup Lee and Un-Kyung Kim

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22701

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    Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1101–1113, Jasmin Hettich, Scott D. Ryan, Osmar Norberto de Souza, Luís Fernando Saraiva Macedo Timmers, Shelun Tsai, Nadia A. Atai, Cintia C. da Hora, Xuan Zhang, Rashmi Kothary, Erik Snapp, Maria Ericsson, Kathrin Grundmann, Xandra O. Breakefield and Flávia C. Nery

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22602

  7. 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

  8. Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 307–318, Vijayashankaranarayanan Narasimhan, Rim Hjeij, Shubha Vij, Niki Tomas Loges, Julia Wallmeier, Cordula Koerner-Rettberg, Claudius Werner, Surin Kumar Thamilselvam, Adrian Boey, Semil P. Choksi, Petra Pennekamp, Sudipto Roy and Heymut Omran

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22738

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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

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    Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1495–1505, Anne Gregor, Jamie M. Kramer, Monique van der Voet, Ina Schanze, Steffen Uebe, Rogier Donders, André Reis, Annette Schenck and Christiane Zweier

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22697

  11. You have free access to this content
    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

    Article first published online : 14 MAR 2014, DOI: 10.1002/humu.22514

  12. 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

  13. You have full text access to this OnlineOpen article
    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Article first published online : 7 OCT 2013, DOI: 10.1002/humu.22433

  14. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22473

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    Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 643–653, Thierry Soussi

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22518

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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

  17. Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 210–220, Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz and Anna Gambin

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22217

  18. 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

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279

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    MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 87–97, Diana Zahnleiter, Nadine N. Hauer, Kristin Kessler, Steffen Uebe, Yuya Sugano, Stephan C.F. Neuhauss, Andreas Giessl, Arif B. Ekici, Holger Blessing, Heinrich Sticht, Helmuth-Günther Dörr, André Reis and Christian T. Thiel

    Article first published online : 28 NOV 2014, DOI: 10.1002/humu.22711

  20. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome-Associated Mutations

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 357–368, Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, Lorenzo Ferri, Serena Catarzi, Catia Cavicchi, Elena Procopio, Maria Alice Donati, Anna Ficcadenti, Agata Fiumara, Rita Barone, Livia Garavelli, Maja Di Rocco, Mirella Filocamo, Daniela Antuzzi, Maurizio Scarpa, Sean D. Mooney, Biao Li, Anastasia Skouma, Sebastiano Bianca, Daniela Concolino, Rosario Casalone, Elena Monti, Marilena Pantaleo, Sabrina Giglio, Renzo Guerrini, Rossella Parini and Amelia Morrone

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22751