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There are 3486 results for: content related to: Validation of a quantitative PCR–high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

  1. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 19–22, Laura Rodríguez, Santiago Rodríguez, Juan Hermida, Carlos Frade, Esther Sande, Guillermo Visedo, Carlos Martín and Carlos Zapata

    Article first published online : 21 APR 2004, DOI: 10.1002/ajmg.a.30074

  2. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

    Human Mutation

    Volume 24, Issue 2, August 2004, Pages: 147–154, Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland and Leena Ala-Kokko

    Article first published online : 18 JUN 2004, DOI: 10.1002/humu.20071

  3. You have free access to this content
    Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta

    Human Mutation

    Volume 27, Issue 6, June 2006, Page: 599, Kwang-Soo Lee, Hae-Ryong Song, Tae-Joon Cho, Hyon J. Kim, Tae-Mi Lee, Hyun-Seok Jin, Hyun-Young Park, Seongman Kang, Sung-Chul Jung and Soo Kyung Koo

    Article first published online : 16 MAY 2006, DOI: 10.1002/humu.9423

  4. Osteogenesis Imperfecta

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter H. Byers, William G. Cole, Pages: 385–430, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch8

  5. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

    Human Mutation

    Volume 27, Issue 7, July 2006, Page: 716, Rebecca Pollitt, Robert McMahon, Janice Nunn, Robert Bamford, Amal Afifi, Nicholas Bishop and Ann Dalton

    Article first published online : 19 JUN 2006, DOI: 10.1002/humu.9430

  6. A new osteogenesis imperfecta with improvement over time maps to 11q

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1807–1814, Agnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, Georges Finidori, Arnold Munnich, Valérie Cormier-Daire and Martine Le Merrer

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32379

  7. You have free access to this content
    Hedgehog signaling controls fibroblast activation and tissue fibrosis in systemic sclerosis

    Arthritis & Rheumatism

    Volume 64, Issue 8, August 2012, Pages: 2724–2733, Angelika Horn, Katrin Palumbo, Cinzia Cordazzo, Clara Dees, Alfiya Akhmetshina, Michal Tomcik, Pawel Zerr, Jerome Avouac, Johannes Gusinde, Jochen Zwerina, Hermine Roudaut, Elisabeth Traiffort, Martial Ruat, Oliver Distler, Georg Schett and Jörg H. W. Distler

    Article first published online : 27 JUL 2012, DOI: 10.1002/art.34444

  8. You have free access to this content
    Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV

    Human Mutation

    Volume 17, Issue 5, May 2001, Page: 434, L.M. Ward, L. Lalic, P.J. Roughley and F.H. Glorieux

    Article first published online : 16 APR 2001, DOI: 10.1002/humu.1124

  9. Divergence of TGFβ signaling in activated hepatic stellate cells downstream from Smad2 phosphorylation

    Signal Transduction

    Volume 2, Issue 1-2, May 2002, Pages: 11–28, Frank Berg, Bert Delvoux, Chunfang Gao, Jens H. Westhoff, Katja Breitkopf, Axel M. Gressner and Steven Dooley

    Article first published online : 7 NOV 2002, DOI: 10.1002/1615-4061(200205)2:1/2<11::AID-SITA11>3.0.CO;2-K

  10. Molecular cloning of type I collagen cDNA and nutritional regulation of type I collagen mRNA expression in grass carp

    Journal of Animal Physiology and Animal Nutrition

    Volume 98, Issue 4, August 2014, Pages: 755–765, E. M. Yu, B. H. Liu, G. J. Wang, D. G. Yu, J. Xie, Y. Xia, W. B. Gong, H. H. Wang, Z. F. Li and N. Wei

    Article first published online : 15 OCT 2013, DOI: 10.1111/jpn.12132

  11. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 121–130, M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, F Malfait, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen, D Krakow, A De Paepe, MAM van Steensel, G Pals, JM Graham and CTRM Schrander-Stumpel

    Article first published online : 24 AUG 2011, DOI: 10.1111/j.1399-0004.2011.01758.x

  12. Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 175–189, Marianne Rohrbach and Cecilia Giunta

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31334

  13. You have full text access to this Open Access content
    Chondroitin sulphate decreases collagen synthesis in normal and scleroderma fibroblasts through a Smad-independent TGF-β pathway – implication of C-Krox and Sp1

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 6b, December 2008, Pages: 2836–2847, Emmanuelle Renard, Christos Chadjichristos, Magdalini Kypriotou, Gallic Beauchef, Pascal Bordat, Anne Dompmartin, Russell L. Widom, Karim Boumediene, Jean-Pierre Pujol and Philippe Galéra

    Article first published online : 25 FEB 2008, DOI: 10.1111/j.1582-4934.2008.00287.x

  14. Clinical and genetic analysis of two Tunisian otosclerosis families

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1653–1660, Insaf Bel Hadj Ali, Melissa Thys, Najeh Beltaief, Isabelle Schrauwen, Nele Dieltjens, Kathleen Vanderstraeten, Ghazi Besbes, Emna Mnif, Slah Hachicha, Saïda Ben Arab and Guy Van Camp

    Article first published online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31806

  15. You have free access to this content
    Inhibition of activator protein 1 signaling abrogates transforming growth factor β–mediated activation of fibroblasts and prevents experimental fibrosis

    Arthritis & Rheumatism

    Volume 64, Issue 5, May 2012, Pages: 1642–1652, Jérôme Avouac, Katrin Palumbo, Michal Tomcik, Pawel Zerr, Clara Dees, Angelika Horn, Britta Maurer, Alfiya Akhmetshina, Christian Beyer, Anika Sadowski, Holm Schneider, Shunichi Shiozawa, Oliver Distler, Georg Schett, Yannick Allanore and Jörg H. W. Distler

    Article first published online : 26 APR 2012, DOI: 10.1002/art.33501

  16. You have free access to this content
    Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

    American Journal of Medical Genetics Part A

    Shubha R. Phadke

    Article first published online : 3 AUG 2015, DOI: 10.1002/ajmg.a.37272

    This article corrects:

    Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

    Vol. 164, Issue 6, 1482–1489, Article first published online: 25 MAR 2014

  17. You have free access to this content
    JAK-2 as a novel mediator of the profibrotic effects of transforming growth factor β in systemic sclerosis

    Arthritis & Rheumatism

    Volume 64, Issue 9, September 2012, Pages: 3006–3015, Clara Dees, Michal Tomcik, Katrin Palumbo-Zerr, Alfiya Distler, Christian Beyer, Veronika Lang, Angelika Horn, Pawel Zerr, Jochen Zwerina, Kolja Gelse, Oliver Distler, Georg Schett and Jörg H. W. Distler

    Article first published online : 27 AUG 2012, DOI: 10.1002/art.34500

  18. You have free access to this content
    Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population

    Annals of Human Genetics

    Volume 75, Issue 5, September 2011, Pages: 598–604, Ayda Khalfallah, Isabelle Schrauwen, Malek Mnejja, Hassen HadjKacem, Leila Dhouib, Mohamed Ali Mosrati, Bochra Hakim, Imed Lahmar, Ilhem Charfeddine, Nabil Driss, Hammadi Ayadi, Abdelmonem Ghorbel, Guy Van Camp and Saber Masmoudi

    Article first published online : 21 JUL 2011, DOI: 10.1111/j.1469-1809.2011.00665.x

  19. Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 728–739, Jennifer Schleit, Samuel S. Bailey, Thao Tran, Diana Chen, Susan Stowers, Ulrike Schwarze and Peter H. Byers

    Article first published online : 18 JUN 2015, DOI: 10.1002/humu.22812

  20. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

    Human Mutation

    Volume 18, Issue 4, October 2001, Pages: 319–326, James M. Pace, Mary Atkinson, Marcia C. Willing, Gillian Wallis and Peter H. Byers

    Article first published online : 18 SEP 2001, DOI: 10.1002/humu.1193