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There are 5129 results for: content related to: Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?

  1. 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

  2. Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia

    The Journal of Dermatology

    Nobuyuki Mitsukawa, Naoko Omori, Mai Tominaga, Shinsuke Akita, Yoshitaka Kubota, Motone Kuriyama and Kaneshige Satoh

    Version of Record online : 14 MAY 2016, DOI: 10.1111/1346-8138.13415

  3. Hypohidrotic ectodermal dysplasia: A report of two cases

    The Journal of Dermatology

    Tomomi Miyake, Yukiko Kiniwa, Tomoki Kosho, Hajime Nakano and Ryuhei Okuyama

    Version of Record online : 6 JUN 2016, DOI: 10.1111/1346-8138.13479

  4. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

    Journal of the European Academy of Dermatology and Venereology

    A.K. Chaudhary, R. Mohapatra, H.A. Nagarajaram, P. Ranganath, A. Dalal, A. Dutta, S. Danda, K.M. Girisha and M.D. Bashyam

    Version of Record online : 11 MAY 2016, DOI: 10.1111/jdv.13587

  5. Case of X-linked hypohidrotic ectodermal dysplasia with a novel EDA missense mutation

    The Journal of Dermatology

    Volume 42, Issue 9, September 2015, Pages: 907–908, Masahito Yasuda, Chikako Kishi, Yoko Yokoyama, Hiroo Amano and Osamu Ishikawa

    Version of Record online : 5 JUN 2015, DOI: 10.1111/1346-8138.12959

  6. 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

  7. A rare RECQL4 indel mutation in a Chinese patient with Rothmund–Thomson syndrome

    Journal of the European Academy of Dermatology and Venereology

    J. Zhang, M. Yan, R. Cheng, C. Ni, J. Liang, M. Li and Z. Yao

    Version of Record online : 30 OCT 2015, DOI: 10.1111/jdv.13466

  8. Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis

    The Journal of Dermatology

    Volume 42, Issue 7, July 2015, Pages: 752–753, Taisuke Ito, Yutaka Shimomura, Ryota Hayashi and Yoshiki Tokura

    Version of Record online : 20 APR 2015, DOI: 10.1111/1346-8138.12889

  9. Reply to: ‘Severe diffuse non-scarring hair loss in systemic lupus erythematosus – clinical and histopathological analysis of four cases’

    Journal of the European Academy of Dermatology and Venereology

    Volume 27, Issue 11, November 2013, Pages: 1456–1457, D. Özcan and D. Seçkin

    Version of Record online : 10 JAN 2013, DOI: 10.1111/jdv.12085

  10. Subungual ectopic hair studied by scanning electron microscopy

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 3, March 2016, Pages: 472–473, P. de Vasconcelos, J. Goyri-O'Neill, L. Soares-Almeida, J. Ferreira and P. Filipe

    Version of Record online : 20 NOV 2014, DOI: 10.1111/jdv.12855

  11. First report of hereditary Christ–Siemens–Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 2, February 2016, Pages: 346–348, S. Garcovich, M. Gnarra, A. Murabit, V. Arena, I. Sani and C. Feliciani

    Version of Record online : 22 OCT 2014, DOI: 10.1111/jdv.12756

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    Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair

    Experimental Dermatology

    Volume 21, Issue 6, June 2012, Pages: 469–471, Hassnaa Mahmoudi, Esra Tug, Ali Haydar Parlak, Halil Ibrahim Atasoy, Michael Ludwig, Mualla Polat, Sandra M. Pasternack and Regina C. Betz

    Version of Record online : 24 MAY 2012, DOI: 10.1111/j.1600-0625.2012.01504.x

  13. Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient

    The Journal of Dermatology

    Volume 41, Issue 1, January 2014, Pages: 105–107, Linghua H. Liu, Jingwen W. Wang, Gang Chen, Ruixue X. Chang, Yi Zhou, Huayang Y. Tang, Jun Zhu, Peiguang G. Wang, Sen Yang and Xuejun J. Zhang

    Version of Record online : 20 DEC 2013, DOI: 10.1111/1346-8138.12309

  14. Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family

    The Journal of Dermatology

    Volume 41, Issue 10, October 2014, Pages: 937–938, Ryota Hayashi, Toshihide Akasaka, Masaaki Ito and Yutaka Shimomura

    Version of Record online : 9 SEP 2014, DOI: 10.1111/1346-8138.12612

  15. Woolly hair nevus associated with digital abnormalities and auditory disturbance

    International Journal of Dermatology

    Volume 53, Issue 3, March 2014, Pages: e164–e166, Kazutoshi Murao, Osamu Miyajima and Yoshiaki Kubo

    Version of Record online : 28 APR 2013, DOI: 10.1111/j.1365-4632.2012.05819.x

  16. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

    Journal of the European Academy of Dermatology and Venereology

    Volume 29, Issue 5, May 2015, Pages: 1032–1034, M. Callea, C.E. Willoughby, P. Nieminen, M. Di Stazio, E. Bellacchio, S. Giglio, I. Sani, A. Vinciguerra, M. Maglione, G. Tadini and G. Clarich

    Version of Record online : 18 MAR 2014, DOI: 10.1111/jdv.12457

  17. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 92–95, JL Hoffer, H Fryssira, AE Konstantinidou, H−H Ropers and A Tzschach

    Version of Record online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01880.x

  18. A novel 1-bp deletion mutation of the EDA gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia

    The Journal of Dermatology

    Volume 41, Issue 7, July 2014, Pages: 659–661, Xiang-Dong Kong, Ning Liu, Hui-Rong Shi and Yu-Xia Yang

    Version of Record online : 2 JUL 2014, DOI: 10.1111/1346-8138.12431

  19. Hereditary bullous acrokeratotic poikiloderma of Weary-Kindler associated with pseudoainhum and sclerotic bands

    International Journal of Dermatology

    Volume 36, Issue 7, July 1997, Pages: 529–533, Aleksandar L. J. Krunic, Medenica Ljiljana, Angelina Novak, Garcia Carlos and Robert E. Clark

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-4362.1997.tb01155.x

  20. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

    British Journal of Dermatology

    Accepted manuscript online: 13 JUL 2016, T. Takeichi, A. Nanda, H.-S. Yang, C.-K. Hsu, J.Y.-Y. Lee, H. Al-Ajmi, M. Akiyama, M.A. Simpson and J.A. McGrath

    DOI: 10.1111/bjd.14845