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There are 285961 results for: content related to: Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

  1. You have free access to this content
    Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 495–503, Jane S. Lucas, Elizabeth C. Adam, Patricia M. Goggin, Claire L. Jackson, Nicola Powles-Glover, Saloni H Patel, James Humphreys, Martin D. Fray, Emilie Falconnet, Jean-Louis Blouin, Michael T. Cheeseman, Lucia Bartoloni, Dominic P. Norris and Peter M. Lackie

    Article first published online : 29 DEC 2011, DOI: 10.1002/humu.22001

  2. Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1161–1170, Rita Casadio, Marco Vassura, Shalinee Tiwari, Piero Fariselli and Pier Luigi Martelli

    Article first published online : 7 SEP 2011, DOI: 10.1002/humu.21555

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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

    Article first published online : 16 NOV 2011, DOI: 10.1002/humu.21624

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    An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 614–626, Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl and Cornelius F. Boerkoel

    Article first published online : 28 FEB 2012, DOI: 10.1002/humu.22032

  5. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1278–1289, Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow and The International Chromosome 22q11.2 Consortium

    Article first published online : 16 SEP 2011, DOI: 10.1002/humu.21568

  6. 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

  7. You have full text access to this OnlineOpen article
    Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 720–727, Huay L. Tan, Elise Glen, Ana Töpf, Darroch Hall, John J O'Sullivan, Linda Sneddon, Christopher Wren, Peter Avery, Richard J. Lewis, Peter ten Dijke, Helen M. Arthur, Judith A. Goodship and Bernard D. Keavney

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22030

  8. Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 750–762, Rudolf Arlanov, Andrew Porter, Dennis Strand, Rachel Brough, Darja Karpova, Reinhold Kerb, Leszek Wojnowski, Matthias Schwab and Thomas Lang

    Article first published online : 28 FEB 2012, DOI: 10.1002/humu.22041

  9. You have full text access to this OnlineOpen article
    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1656–1664, Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K. Bruce, Andrew R. Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A. S. Knisely, Steven P. Watson and Paul Gissen

    Article first published online : 6 AUG 2012, DOI: 10.1002/humu.22155

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    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 665–673, Philip B. Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Trevor Cole, Felicity Collins, Albert David, Koen Devriendt, Laurence Faivre, Shiro Ikegawa, Sebastien Jacquemont, Milos Jesic, Deborah Krakow, Daniela Liebrecht, Silvia Maitz, Sandrine Marlin, Gilles Morin, Toshiya Nishikubo, Gen Nishimura, Trine Prescott, Gioacchino Scarano, Yousef Shafeghati, Flemming Skovby, Seiji Tsutsumi, Margo Whiteford, Martin Zenker and Stephen P. Robertson

    Article first published online : 23 JAN 2012, DOI: 10.1002/humu.22012

  11. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1485–1493, Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke and Anne De Paepe

    Article first published online : 5 JUL 2012, DOI: 10.1002/humu.22137

  12. 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

  13. 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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    Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 198–208, Kotoka Nakamura, Liutao Du, Rashmi Tunuguntla, Francesca Fike, Simona Cavalieri, Tomohiro Morio, Shuki Mizutani, Alfredo Brusco and Richard A. Gatti

    Article first published online : 9 NOV 2011, DOI: 10.1002/humu.21632

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    Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1481–1491, Takuro Arimura, Taisuke Ishikawa, Shinichi Nunoda, Sachio Kawai and Akinori Kimura

    Article first published online : 29 SEP 2011, DOI: 10.1002/humu.21603

  16. 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

  17. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 165–179, Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

    Article first published online : 2 NOV 2011, DOI: 10.1002/humu.21614

  18. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 411–418, Elena J. Tucker, Masakazu Mimaki, Alison G. Compton, Matthew McKenzie, Michael T. Ryan and David R. Thorburn

    Article first published online : 22 DEC 2011, DOI: 10.1002/humu.21654

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    Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes

    Human Mutation

    Volume 32, Issue 3, March 2011, Pages: 263–271, Santosh Kumar Patnaik and Olga O. Blumenfeld

    Article first published online : 10 FEB 2011, DOI: 10.1002/humu.21430

  20. You have full text access to this OnlineOpen article
    The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

    Human Mutation

    Volume 32, Issue 5, May 2011, Pages: 532–536, Samuel J. Aronson, Eugene H. Clark, Lawrence J. Babb, Samantha Baxter, Lisa M. Farwell, Birgit H. Funke, Amy Lovelette Hernandez, Victoria A. Joshi, Elaine Lyon, Andrew R. Parthum, Franklin J. Russell, Matthew Varugheese, Thomas C. Venman and Heidi L. Rehm

    Article first published online : 22 MAR 2011, DOI: 10.1002/humu.21470