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There are 39770 results for: content related to: Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p. G ly116Val, in ANTXR 2

  1. Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma

    The Journal of Dermatology

    Volume 40, Issue 7, July 2013, Pages: 581–582, Yoshitaka Shimizu, Kazumitsu Sugiura, Yumi Aoyama, Yasushi Ogawa, Kiyotaka Hitomi, Keiji Iwatsuki and Masashi Akiyama

    Version of Record online : 19 MAY 2013, DOI: 10.1111/1346-8138.12169

  2. Acral peeling skin syndrome resulting from mutations in TGM5

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 3, March 2016, Pages: 477–480, J. Cañueto, E. Bueno, E. Rodríguez-Diaz, M.A. Vicente-Díaz, C.C. Álvarez-Cuesta, P. Gonzalvo-Rodríguez and R. González-Sarmiento

    Version of Record online : 16 DEC 2014, DOI: 10.1111/jdv.12863

  3. You have free access to this content
    FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication

    Experimental Dermatology

    Volume 25, Issue 10, October 2016, Pages: 816–818, Kapsok Li, Won Jong Oh, Kui Young Park, Kyu-Han Kim and Seong Jun Seo

    Version of Record online : 13 JUL 2016, DOI: 10.1111/exd.13063

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    Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis

    American Journal of Hematology

    Volume 86, Issue 8, August 2011, Pages: 701–702, Animesh Pardanani, Terra L. Lasho, Christy M. Finke and Ayalew Tefferi

    Version of Record online : 14 JUN 2011, DOI: 10.1002/ajh.22058

  5. Comparative analysis of the GNAQ,GNA11,SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum

    Pigment Cell & Melanoma Research

    Volume 29, Issue 4, July 2016, Pages: 470–473, Douglas B. Johnson, Jason Roszik, Alexander N. Shoushtari, Zeynep Eroglu, Justin M. Balko, Catherine Higham, Igor Puzanov, Sapna P. Patel, Jeffrey A. Sosman and Scott E. Woodman

    Version of Record online : 20 JUN 2016, DOI: 10.1111/pcmr.12482

  6. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 40, Issue 1, January 2013, Pages: 59–61, Sang Hee Lee, Song-Ee Kim, Eun Bee Noh, Se-Woong Oh and Soo-Chan Kim

    Version of Record online : 14 SEP 2012, DOI: 10.1111/j.1346-8138.2012.01666.x

  7. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis

    The Journal of Dermatology

    Volume 40, Issue 4, April 2013, Pages: 278–280, Taisuke Ito, Yutaka Shimomura, Masaaki Ogai, Jun-Ichi Sakabe and Yoshiki Tokura

    Version of Record online : 7 JAN 2013, DOI: 10.1111/1346-8138.12068

  8. Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype

    The Journal of Dermatology

    Volume 41, Issue 10, October 2014, Pages: 939–940, Nagisa Yoshihara, Hajime Nakano, Daisuke Sawamura and Shigaku Ikeda

    Version of Record online : 16 SEP 2014, DOI: 10.1111/1346-8138.12621

  9. Loss of heterozygosity in a case of glomuvenous malformations

    The Journal of Dermatology

    Volume 42, Issue 6, June 2015, Pages: 646–647, Chika Ohata, Mitsuhiro Matsuda, Takahiro Hamada, Takako Shintani, Ikko Muto, Hiroshi Nagata, Minao Furumura and Takekuni Nakama

    Version of Record online : 21 MAR 2015, DOI: 10.1111/1346-8138.12849

  10. Typical Chinese pedigree of autosomal dominant genetic disease: Neurofibromatosis type 1 with a novel frame-shift mutation

    The Journal of Dermatology

    Volume 44, Issue 8, August 2017, Pages: e188–e189, Yunyi Guo, Ying Zhu, Danlu Zhang, Hong Yu and Zhonghui Sun

    Version of Record online : 4 MAY 2017, DOI: 10.1111/1346-8138.13899

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    The different prognostic impact of type-1 or type-1 like and type-2 or type-2 like CALR mutations in patients with primary myelofibrosis

    American Journal of Hematology

    Volume 91, Issue 7, July 2016, Pages: E320–E321, Bing Li, Zefeng Xu, Yan Li, Robert Peter Gale, Zhen Song, Xiaofei Ai, Tiejun Qin, Yue Zhang, Peihong Zhang, Gang Huang and Zhijian Xiao

    Version of Record online : 24 APR 2016, DOI: 10.1002/ajh.24378

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    CREBBP mutation in human cutaneous squamous cell carcinoma

    Experimental Dermatology

    Volume 25, Issue 8, August 2016, Pages: 650–651, Stephen A. Watt, Karin J. Purdie, Nicoline Y. den Breems, Michelle Dimon, Stefan Tucker, Sarah T. Arron, Angela McHugh, Dylan J. Xue, Jasbani H.S. Dayal, Catherine A. Harwood, Irene M. Leigh, Charlotte M. Proby and Andrew P. South

    Version of Record online : 30 JUN 2016, DOI: 10.1111/exd.13044

  13. High TERT promoter mutation frequency in non-acral cutaneous metastatic melanoma

    Pigment Cell & Melanoma Research

    Volume 29, Issue 5, September 2016, Pages: 598–600, Henrik Ekedahl, Martin Lauss, Håkan Olsson, Klaus G. Griewank, Dirk Schadendorf, Christian Ingvar and Göran Jönsson

    Version of Record online : 1 AUG 2016, DOI: 10.1111/pcmr.12500

  14. Second report of FLG R501X mutation in Japanese patients with atopic dermatitis

    The Journal of Dermatology

    Volume 40, Issue 6, June 2013, Pages: 498–499, Hayato Yamaguchi, Kazuki Tatsuno, Jun-ichi Sakabe and Yoshiki Tokura

    Version of Record online : 21 MAR 2013, DOI: 10.1111/1346-8138.12133

  15. Frequency of somatic BRAF mutations in melanocytic lesions from patients in a CDK4 melanoma family

    Pigment Cell & Melanoma Research

    Volume 27, Issue 1, January 2014, Pages: 149–151, Hanne E. Puntervoll, Anders Molven and Lars A. Akslen

    Version of Record online : 21 NOV 2013, DOI: 10.1111/pcmr.12191

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    Three novel patient-derived BCR/ABL mutants show different sensitivity to second and third generation tyrosine kinase inhibitors

    American Journal of Hematology

    Volume 87, Issue 11, November 2012, Pages: E125–E128, Sara Redaelli, Luca Mologni, Roberta Rostagno, Rocco Piazza, Vera Magistroni, Monica Ceccon, Michela Viltadi, Daniel Flynn and Carlo Gambacorti-Passerini

    Version of Record online : 9 OCT 2012, DOI: 10.1002/ajh.23338

  17. Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa

    The Journal of Dermatology

    Volume 41, Issue 4, April 2014, Pages: 350–351, In Kyung Jeon, Song-Ee Kim and Soo-Chan Kim

    Version of Record online : 18 FEB 2014, DOI: 10.1111/1346-8138.12356

  18. Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

    The Journal of Dermatology

    Volume 43, Issue 11, November 2016, Pages: 1384–1385, Yoshimi Matsuo, Akio Tanaka, Yutaka Shimomura and Michihiro Hide

    Version of Record online : 20 APR 2016, DOI: 10.1111/1346-8138.13373

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    Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

    The Journal of Dermatology

    Volume 41, Issue 1, January 2014, Pages: 108–109, Kun Guo, Shengxiang Xiao, Songmei Geng, Yiguo Feng, Dingwei Zhang, Pengjun Zhou and Yanfei Zhang

    Version of Record online : 20 DEC 2013, DOI: 10.1111/1346-8138.12349

  20. Multiple familial trichoepithelioma with a novel mutation of the CYLD gene

    The Journal of Dermatology

    Volume 44, Issue 9, September 2017, Pages: e228–e229, Asami Fujii, Kanako Matsuyama, Yoko Mizutani, Hiroyuki Kanoh, Hajime Nakano and Mariko Seishima

    Version of Record online : 10 MAY 2017, DOI: 10.1111/1346-8138.13901