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There are 272234 results for: content related to: Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

  1. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1233–1239, Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns-Lê, Lut Van Laer and Anne De Paepe

    Version of Record online : 28 OCT 2010, DOI: 10.1002/humu.21355

  2. Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2935–2940, Kevin A. Winters, Zhijie Jiang, Weihong Xu, Shibo Li, Zineb Ammous, Parul Jayakar and Klaas J. Wierenga

    Version of Record online : 14 SEP 2012, DOI: 10.1002/ajmg.a.35613

  3. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 535–547, Delfien Syx, Tim Van Damme, Sofie Symoens, Merel C. Maiburg, Ingrid van de Laar, Jenny Morton, Mohnish Suri, Miguel Del Campo, Ingrid Hausser, Trinh Hermanns-Lê, Anne De Paepe and Fransiska Malfait

    Version of Record online : 6 APR 2015, DOI: 10.1002/humu.22774

  4. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

    American Journal of Medical Genetics Part A

    Volume 155, Issue 8, August 2011, Pages: 1949–1958, Kenji Shimizu, Nobuhiko Okamoto, Noriko Miyake, Katsuaki Taira, Yumiko Sato, Keiko Matsuda, Noriko Akimaru, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima, Naomichi Matsumoto and Tomoki Kosho

    Version of Record online : 8 JUL 2011, DOI: 10.1002/ajmg.a.34115

  5. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 103–115, Andreas R. Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek and Beat Steinmann

    Version of Record online : 16 SEP 2015, DOI: 10.1002/ajmg.a.37383

  6. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb–clubfoot syndrome”

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 484–485, Andreas R. Janecke, Jacques U. Baenziger, Thomas Müller and Munis Dündar

    Version of Record online : 15 MAR 2011, DOI: 10.1002/humu.21440

  7. You have full text access to this OnlineOpen article
    Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 5, September 2015, Pages: 413–423, Sameer S. Chopra, Ignaty Leshchiner, Hatice Duzkale, Heather McLaughlin, Monica Giovanni, Chengsheng Zhang, Nathan Stitziel, Joyce Fingeroth, Robin M. Joyce, Matthew Lebo, Heidi Rehm, Dana Vuzman, Richard Maas, Shamil R. Sunyaev, the Brigham Genomic Medicine Program, Michael Murray and Christopher A. Cassa

    Version of Record online : 10 MAY 2015, DOI: 10.1002/mgg3.152

  8. Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 850–855, N.C. Voermans, M. Kempers, M. Lammens, N. van Alfen, M.C. Janssen, C. Bönnemann, B.G. van Engelen and B.C. Hamel

    Version of Record online : 9 MAR 2012, DOI: 10.1002/ajmg.a.35232

  9. You have free access to this content
    The Ehlers–Danlos syndromes, rare types

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

    Volume 175, Issue 1, March 2017, Pages: 70–115, Angela F. Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F. Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke and Fransiska Malfait

    Version of Record online : 17 MAR 2017, DOI: 10.1002/ajmg.c.31550

  10. You have free access to this content
    CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

    Pediatrics International

    Volume 58, Issue 2, February 2016, Pages: 88–99, Tomoki Kosho

    Version of Record online : 10 FEB 2016, DOI: 10.1111/ped.12878

  11. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 454–460, A Sultana, M S Sridhar, G K Klintworth, D Balasubramanian and C Kannabiran

    Version of Record online : 20 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00517.x

  12. Temperature-dependent autoimmunity mediated by chs1 requires its neighboring TNL gene SOC3

    New Phytologist

    Volume 213, Issue 3, February 2017, Pages: 1330–1345, Yao Zhang, Yuancong Wang, Jingyan Liu, Yanglin Ding, Shanshan Wang, Xiaoyan Zhang, Yule Liu and Shuhua Yang

    Version of Record online : 4 OCT 2016, DOI: 10.1111/nph.14216

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    Tandemly arranged chalcone synthase A genes contribute to the spatially regulated expression of siRNA and the natural bicolor floral phenotype in Petunia hybrida

    The Plant Journal

    Volume 70, Issue 5, June 2012, Pages: 739–749, Yasumasa Morita, Ryoko Saito, Yusuke Ban, Natsu Tanikawa, Kazuyuki Kuchitsu, Toshio Ando, Manabu Yoshikawa, Yoshiki Habu, Yoshihiro Ozeki and Masayoshi Nakayama

    Version of Record online : 30 MAR 2012, DOI: 10.1111/j.1365-313X.2012.04908.x

  14. Improved outcome for children with hepatoblastoma

    BJS

    Volume 82, Issue 3, March 1995, Pages: 386–391, Mr M. D. Stringer, S. Hennayake, E. R. Howard, L. Spitz, E. A. Shafford, G. Mieli-Vergani, R. Saxena, M. Malone, C. Dicks-Mireaux, J. Karani, A. P. Mowat and J. Pritchard

    Version of Record online : 7 DEC 2005, DOI: 10.1002/bjs.1800820334

  15. Neuroblastoma after prenatal exposure to phenytoin: Cause and effect?

    Teratology

    Volume 40, Issue 2, August 1989, Pages: 157–162, Dr. Gideon Koren, Demitri Demitrakoudis, Rosanna Weksberg, Michael Rieder, Dr. Neil H. Shear, Marylin Sonely, Barry Shandling and Stephen P. Spielberg

    Version of Record online : 1 JUN 2005, DOI: 10.1002/tera.1420400209

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    A mutant CHS3 protein with TIR-NB-LRR-LIM domains modulates growth, cell death and freezing tolerance in a temperature-dependent manner in Arabidopsis

    The Plant Journal

    Volume 63, Issue 2, July 2010, Pages: 283–296, Haibian Yang, Yiting Shi, Jingyan Liu, Lin Guo, Xiaoyan Zhang and Shuhua Yang

    Version of Record online : 28 APR 2010, DOI: 10.1111/j.1365-313X.2010.04241.x

  17. You have full text access to this OnlineOpen article
    Individual chitin synthase enzymes synthesize microfibrils of differing structure at specific locations in the Candida albicans cell wall

    Molecular Microbiology

    Volume 66, Issue 5, December 2007, Pages: 1164–1173, Megan D. Lenardon, Rhian K. Whitton, Carol A. Munro, Deborah Marshall and Neil A. R. Gow

    Version of Record online : 17 OCT 2007, DOI: 10.1111/j.1365-2958.2007.05990.x

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    Interactions within a network of phytochrome, cryptochrome and UV-B phototransduction pathways regulate chalcone synthase gene expression in Arabidopsis leaf tissue

    The Plant Journal

    Volume 25, Issue 6, March 2001, Pages: 675–685, Helena K. Wade, Tatiana N. Bibikova, William J. Valentine and Gareth I. Jenkins

    Version of Record online : 6 APR 2002, DOI: 10.1046/j.1365-313x.2001.01001.x

  19. WHAT DO ATCs OFFER IN WALES?: A SURVEY OF WELSH DAY SERVICES

    Mental Handicap Research

    Volume 7, Issue 1, March 1994, Pages: 16–40, Stephen Beyer, Mark Kilsby and Kathy Lowe

    Version of Record online : 25 MAR 2010, DOI: 10.1111/j.1468-3148.1994.tb00114.x

  20. Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo-encephalo-hepato-renal disorders

    American Journal of Medical Genetics

    Volume 52, Issue 4, 1 October 1994, Pages: 419–426, S. M. E. Lewis, E. A. Roberts, M. A. Marcon, E. Harvey, M. J. Phillips, S. A. Chuang, J. R. Buncie and J. T. R. Clarke

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320520406