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There are 23677 results for: content related to: A novel de novo nonsense mutation in the TRPS 1 gene in a J apanese patient with tricho-rhino-phalangeal syndrome type I

  1. 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

  2. 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

  3. 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

  4. You have free access to this content
    Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 396–398, Taisuke Ito, Yutaka Shimomura, Muhammad Farooq, Noriko Suzuki, Jun-Ichi Sakabe and Yoshiki Tokura

    Version of Record online : 4 MAR 2013, DOI: 10.1111/1346-8138.12111

  5. Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 659–663, Nina Pereza, Srećko Severinski, Saša Ostojić, Marija Volk, Aleš Maver, Kristina Baraba Dekanić, Miljenko Kapović and Borut Peterlin

    Version of Record online : 7 FEB 2012, DOI: 10.1002/ajmg.a.35201

  6. 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

  7. 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

  8. You have free access to this content
    Trps1 is associated with the multidrug resistance of osteosarcoma by regulating MDR1 gene expression

    FEBS Letters

    Volume 588, Issue 5, March 03, 2014, Pages: 801–810, Ming Jia, Jing Hu, Weiwei Li, Peng Su, Hui Zhang, Xiaofang Zhang and Gengyin Zhou

    Version of Record online : 31 JAN 2014, DOI: 10.1016/j.febslet.2014.01.041

  9. Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients

    British Journal of Dermatology

    Volume 163, Issue 2, August 2010, Pages: 416–419, L-H. Chen, C-C. Ning and S-C. Chao

    Version of Record online : 12 APR 2010, DOI: 10.1111/j.1365-2133.2010.09802.x

  10. 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

  11. Fate mapping of Trps1 daughter cells during cardiac development using novel Trps1-Cre mice

    genesis

    Volume 54, Issue 7, July 2016, Pages: 379–388, Ahmed G. Nomir, Yuto Takeuchi, Junji Fujikawa, Ashraf A. El Sharaby, Satoshi Wakisaka and Makoto Abe

    Version of Record online : 20 JUN 2016, DOI: 10.1002/dvg.22951

  12. 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

  13. Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1587–1592, Jacqueline McBrien, John Anthony Crolla, Shuwen Huang, Jerry Kelleher, John Gleeson and Sally Ann Lynch

    Version of Record online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32347

  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. A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III

    British Journal of Dermatology

    Volume 159, Issue 2, August 2008, Pages: 476–478, M. Tariq, S. Ahmad and W. Ahmad

    Version of Record online : 9 JUN 2008, DOI: 10.1111/j.1365-2133.2008.08658.x

  16. 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

  17. A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 5, May 2010, Pages: 612–614, A Sendi-Naderi, H-J Lüdecke, S Unger, JS Kern, G Wolff, L Bruckner-Tuderman and D Nashan

    Version of Record online : 16 SEP 2009, DOI: 10.1111/j.1468-3083.2009.03444.x

  18. Imiquimod in dermatology: an overview

    International Journal of Dermatology

    Volume 55, Issue 8, August 2016, Pages: 831–844, Edith Hanna, Rami Abadi and Ossama Abbas

    Version of Record online : 8 JUL 2016, DOI: 10.1111/ijd.13235

  19. Cutaneous porphyrias part II: treatment strategies

    International Journal of Dermatology

    Volume 53, Issue 1, January 2014, Pages: 3–24, Suzanne Tintle, Ali Alikhan, Mary E. Horner, Jennifer L. Hand and Dawn Marie R. Davis

    Version of Record online : 18 OCT 2013, DOI: 10.1111/ijd.12016

  20. A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 3, March 2010, Pages: 358–359, M Nakamura, K Sugita and Y Tokura

    Version of Record online : 20 AUG 2009, DOI: 10.1111/j.1468-3083.2009.03406.x