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There are 63153 results for: content related to: Trichorhinophalangeal syndrome with low expression of TRPS 1 on epidermal and hair follicle epithelial cells

  1. A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1

    The Journal of Dermatology

    Volume 41, Issue 6, June 2014, Pages: 514–517, Tomomi Fujisawa, Toshiyuki Fukao, Yutaka Shimomura and Mariko Seishima

    Version of Record online : 9 JUN 2014, DOI: 10.1111/1346-8138.12511

  2. Myofascial Trigger Points, Pain, Disability, and Sleep Quality in Patients with Chronic Nonspecific Low Back Pain

    Pain Medicine

    Volume 14, Issue 12, December 2013, Pages: 1964–1970, Juan J. Iglesias-González, María T. Muñoz-García, Daiana P. Rodrigues-de-Souza, Francisco Alburquerque-Sendín and César Fernández-de-las-Peñas

    Version of Record online : 15 AUG 2013, DOI: 10.1111/pme.12224

  3. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1837–1841, Maria Piccione, Marcello Niceta, Vincenzo Antona, Antonella Di Fiore, Filomena Cariola, Mattia Gentile and Giovanni Corsello

    Version of Record online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32952

  4. A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

    International Journal of Dermatology

    Volume 53, Issue 8, August 2014, Pages: 1012–1015, Muhammad Farooq, Hiroki Fujikawa, Atsushi Fujimoto, Yoshiaki Kubo, Masaaki Ito and Yutaka Shimomura

    Version of Record online : 28 APR 2013, DOI: 10.1111/j.1365-4632.2012.05694.x

  5. Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3211–3216, Alan L. Shanske, Ankita Patel, Sou Saukam, Brynn Levy and Hermann-Josef Lüdecke

    Version of Record online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32615

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    Transient receptor potential cation channels in visceral sensory pathways

    British Journal of Pharmacology

    Volume 171, Issue 10, May 2014, Pages: 2528–2536, L Ashley Blackshaw

    Version of Record online : 28 APR 2014, DOI: 10.1111/bph.12641

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    Transient receptor potential (TRP) channels: a clinical perspective

    British Journal of Pharmacology

    Volume 171, Issue 10, May 2014, Pages: 2474–2507, Yosuke Kaneko and Arpad Szallasi

    Version of Record online : 28 APR 2014, DOI: 10.1111/bph.12414

  8. Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1598–1604, Stefano Stagi, Giuseppe Bindi, Fiorella Galluzzi, Elisabetta Lapi, Roberto Salti and Francesco Chiarelli

    Version of Record online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32348

  9. Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient

    The Journal of Dermatology

    Volume 40, Issue 4, April 2013, Pages: 277–278, Shuhua Zhou, Dehui Jin and Yali Song

    Version of Record online : 7 JAN 2013, DOI: 10.1111/1346-8138.12064

  10. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

    American Journal of Medical Genetics

    Volume 107, Issue 1, 1 January 2002, Pages: 26–29, Hiromasa Kobayashi, Megumu Hino, Makiko Shimodahira, Toshio Iwakura, Takashi Ishihara, Katsuji Ikekubo, Yoshihiro Ogawa, Kazuwa Nakao and Hiroyuki Kurahachi

    Version of Record online : 23 OCT 2001, DOI: 10.1002/ajmg.10081

  11. Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23

    Clinical Genetics

    Volume 29, Issue 5, May 1986, Pages: 434–438, J. Goldblatt and R. D. Smart

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb00517.x

  12. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 2, 1 December 2004, Pages: 200–203, S. Riedl, A. Giedion, K. Schweitzer, A. Müllner-Eidenböck, F. Grill, H. Frisch and H.-J. Lüdecke

    Version of Record online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30374

  13. You have full text access to this OnlineOpen article
    Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1735–1745, Dobrawa Napierala, Yao Sun, Izabela Maciejewska, Terry K Bertin, Brian Dawson, Rena D'Souza, Chunlin Qin and Brendan Lee

    Version of Record online : 17 JUL 2012, DOI: 10.1002/jbmr.1636

  14. Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I

    British Journal of Dermatology

    Volume 157, Issue 5, November 2007, Pages: 1021–1024, A. Rossi, V. Devirgiliis, V. Panasiti, R.G. Borroni, M. Carlesimo, M. Gentile, F. Cariola and S. Calvieri

    Version of Record online : 13 SEP 2007, DOI: 10.1111/j.1365-2133.2007.08158.x

  15. GC79/TRPS1 and tumorigenesis in humans

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 3, 30 April 2005, Pages: 341–343, Hiromasa Kobayashi, Megumu Hino, Tatsuhide Inoue, Eiji Nii, Kaori Ikeda, Cheol Son, Toshio Iwakura, Takashi Ishihara and Yoshihiro Ogawa

    Version of Record online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30596

  16. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

    American Journal of Medical Genetics

    Volume 49, Issue 3, 1 February 1994, Pages: 278–280, Toshiro Nagai, Gen Nishimura, Hideaki Kasai, Tomonobu Hasegawa, Rumiko Kato, Hirofumi Ohashi and Yoshimitu Fukushima

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320490307

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    Functional expression of TRPV channels in T cells and their implications in immune regulation

    The FEBS Journal

    Volume 282, Issue 14, July 2015, Pages: 2661–2681, Rakesh K. Majhi, Subhransu S. Sahoo, Manoj Yadav, Belluru M. Pratheek, Subhasis Chattopadhyay and Chandan Goswami

    Version of Record online : 28 MAY 2015, DOI: 10.1111/febs.13306

  18. Trichorhinophalangeal syndrome type I

    Journal of the European Academy of Dermatology and Venereology

    Volume 11, Issue 1, July 1998, Pages: 66–68, Soshamma George, Susanne Pulimood and Ipeson Korah

    Version of Record online : 29 SEP 2006, DOI: 10.1111/j.1468-3083.1998.tb00957.x

  19. Fishing for new genes in skin biology: impact of cytogenetics on gene discovery

    Clinical Genetics

    Volume 66, Issue 2, August 2004, Pages: 94–106, M Tadin-Strapps, D Warburton, JC Salas-Alanis, LD Lopez-Cepeda and AM Christiano

    Version of Record online : 14 JUL 2004, DOI: 10.1111/j.0009-9163.2004.00301.x

  20. Towards a Unified Approach to New Target Discovery in Breast Cancer: Combining the Power of Genomics, Proteomics and Immunology

    Immunogenomics and Human Disease

    Laszlo G. Radvanyi, Bryan Hennessy, Kurt Gish, Gordon Mills, Neil Berinstein, Pages: 167–207, 2006

    Published Online : 16 MAY 2006, DOI: 10.1002/0470034092.ch9