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There are 2452774 results for: content related to: Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

  1. Frameshift mutation in the collagen VI gene causes Ullrich's disease

    Annals of Neurology

    Volume 50, Issue 2, August 2001, Pages: 261–265, Itsuro Higuchi, Tadafumi Shiraishi, Teruto Hashiguchi, Masahito Suehara, Takahito Niiyama, Masanori Nakagawa, Kimiyoshi Arimura, Ikuro Maruyama and Mitsuhiro Osame

    Article first published online : 28 JUN 2001, DOI: 10.1002/ana.1120

  2. Early onset collagen VI myopathies: Genetic and clinical correlations

    Annals of Neurology

    Volume 68, Issue 4, October 2010, Pages: 511–520, Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Emmanuelle Lacène, Samira Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloglu, Göknur Haliloglu, Isabelle Pénisson-Besnier, Pierre-Yves Jeannet, Luciano Merlini, Carmen Navarro, Annick Toutain, Denys Chaigne, Isabelle Desguerre, Christine de Die-Smulders, Murielle Dunand, Bernard Echenne, Bruno Eymard, Thierry Kuntzer, Kim Maincent, Michèle Mayer, Ghislaine Plessis, François Rivier, Filip Roelens, Tanya Stojkovic, Ana Lía Taratuto, Fabiana Lubieniecki, Soledad Monges, Christine Tranchant, Louis Viollet, Norma B. Romero, Brigitte Estournet, Pascale Guicheney and Valérie Allamand

    Article first published online : 25 OCT 2010, DOI: 10.1002/ana.22087

  3. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

    Human Mutation

    Volume 29, Issue 6, June 2008, Pages: 809–822, A.K. Lampe, Y. Zou, D. Sudano, K.K. O'Brien, D. Hicks, S.H. Laval, R. Charlton, C. Jimenez-Mallebrera, R.-Z. Zhang, R.S. Finkel, G. Tennekoon, G. Schreiber, M.S. van der Knaap, H. Marks, V. Straub, K.M. Flanigan, M.-L. Chu, F. Muntoni, K.M.D. Bushby and C.G. Bönnemann

    Article first published online : 25 MAR 2008, DOI: 10.1002/humu.20704

  4. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10-N7 domains

    Journal of Cellular Physiology

    Volume 206, Issue 1, January 2006, Pages: 160–166, Stefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, Pascale Guicheney, Ercan Demir, Luciano Merlini, Giovanna Lattanzi, Andrea Ognibene, Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, Paolo Bonaldo and Nadir Mario Maraldi

    Article first published online : 17 JUN 2005, DOI: 10.1002/jcp.20443

  5. Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

    Annals of Human Genetics

    Volume 59, Issue 3, July 1995, Pages: 253–269, G. E. DAVIES, C. M. HOWARD, M. J. FARRER, M. M. COLEMAN, L. B. BENNETT, L. M. CULLEN, R. K. H. WYSE, J. BURN, R. WILLIAMSON and A. M. KESSLING

    Article first published online : 28 SEP 2007, DOI: 10.1111/j.1469-1809.1995.tb00746.x

  6. Molecular consequences of dominant Bethlem myopathy collagen VI mutations

    Annals of Neurology

    Volume 62, Issue 4, October 2007, Pages: 390–405, Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard Jacobson, Ros C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman and Shireen R. Lamandé

    Article first published online : 20 SEP 2007, DOI: 10.1002/ana.21213

  7. Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia

    American Journal of Medical Genetics

    Volume 45, Issue 3, 1 February 1993, Pages: 345–352, Eric J. Weaver, Gregg P. Summerville, George Yeh, Maria Hervada-Page, Ralph Oehlmann, Richard Rothman, Sergio A. Jimenez and Robert G. Knowlton

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320450312

  8. Stable ring chromosome 21: Molecular and clinical definition of the lesion

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 22–28, T. C. Falik-Borenstein, T. M. Pribyl, S. M. Pulst, D. L. Van Dyke, L. Weiss, M. L. Chu, J. Kraus, D. Marshak and J. R. Korenberg

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320420107

  9. Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease

    Muscle & Nerve

    Volume 26, Issue 5, November 2002, Pages: 696–701, Jing Hu, Itsuro Higuchi, Tadafumi Shiraishi, Masahito Suehara, Takahito Niiyama, Takashi Horikiri, Yuichi Uchida, Akiko Saito and Mitsuhiro Osame

    Article first published online : 30 SEP 2002, DOI: 10.1002/mus.10250

  10. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

    Muscle & Nerve

    Volume 25, Issue 4, April 2002, Pages: 513–519, Olga Camacho Vanegas, Rui-Zhu Zhang, Patrizia Sabatelli, Giovanna Lattanzi, Paola Bencivenga, Betti Giusti, Marta Columbaro, Mon-Li Chu, Luciano Merlini and Guglielmina Pepe

    Article first published online : 27 FEB 2002, DOI: 10.1002/mus.10100

  11. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

    Annals of Neurology

    Volume 58, Issue 3, September 2005, Pages: 400–410, Betti Giusti, Laura Lucarini, Valentina Pietroni, Simona Lucioli, Brunella Bandinelli, Patrizia Sabatelli, Stefano Squarzoni, Stefania Petrini, Corine Gartioux, Beril Talim, Filip Roelens, Luciano Merlini, Haluk Topaloglu, Enrico Bertini, Pascale Guicheney and Guglielmina Pepe

    Article first published online : 29 AUG 2005, DOI: 10.1002/ana.20586

  12. Exclusion of candidate genes in a family with arterial tortuosity syndrome

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 221–228, Rita Gardella, Nicoletta Zoppi, Deodato Assanelli, Maria Lorenza Muiesan, Sergio Barlati and Marina Colombi

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20589

  13. Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies

    Annals of the New York Academy of Sciences

    Volume 1147, Issue 1, December 2008, Pages: 303–311, Paolo Bernardi and Paolo Bonaldo

    Article first published online : 8 DEC 2008, DOI: 10.1196/annals.1427.009

  14. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2501–2505, Cheryl L. Maslen, Darcie Babcock, Susan W. Robinson, Lora J. H. Bean, Kenneth J. Dooley, Virginia L. Willour and Stephanie L. Sherman

    Article first published online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31494

  15. Dilated ascending aorta in a child with ring chromosome 21 syndrome

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 2, 1 October 2004, Pages: 191–195, Alan F. Rope, Robert B. Hinton, Robert L. Spicer, Ruthann Blough-Pfau and Howard M. Saal

    Article first published online : 10 SEP 2004, DOI: 10.1002/ajmg.a.30143

  16. You have free access to this content
    Definition and spatial annotation of the dynamic secretome during early kidney development

    Developmental Dynamics

    Volume 235, Issue 6, June 2006, Pages: 1709–1719, Gemma Martinez, Kylie Georgas, Grant A. Challen, Bree Rumballe, Melissa J. Davis, Darrin Taylor, Rohan D. Teasdale, Sean M. Grimmond and Melissa H. Little

    Article first published online : 14 MAR 2006, DOI: 10.1002/dvdy.20740

  17. Wild type N-ras displays anti-malignant properties, in part by downregulating decorin

    Journal of Cellular Physiology

    Volume 227, Issue 6, June 2012, Pages: 2341–2351, Marta Benet, Robin Yates Dulman, Raffi Suzme, Eleazar Vega-Saenz de Miera, Martha E. Vega, Thuy Nguyen, Jiri Zavadil and Angel Pellicer

    Article first published online : 24 FEB 2012, DOI: 10.1002/jcp.22969

  18. You have free access to this content
    Insights into extramedullary tumour cell growth revealed by expression profiling of human plasmacytomas and multiple myeloma

    British Journal of Haematology

    Volume 122, Issue 5, September 2003, Pages: 728–744, Cyrus V. Hedvat, Raymond L. Comenzo, Julie Teruya-Feldstein, Adam B. Olshen, Scott A. Ely, Keren Osman, Yana Zhang, Nagesh Kalakonda and Stephen D. Nimer

    Article first published online : 21 AUG 2003, DOI: 10.1046/j.1365-2141.2003.04481.x

  19. Collagens: building blocks at the end of the development line

    Clinical Genetics

    Volume 58, Issue 4, October 2000, Pages: 270–279, PH Byers

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580404.x

  20. Structural Proteins: Genes for Collagen

    Standard Article

    eLS

    Mon-Li Chu

    Published Online : 17 JAN 2011, DOI: 10.1002/9780470015902.a0005023.pub2