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There are 42586 results for: content related to: Identification of a novel heterozygous mutation in the first J apanese case of M arie U nna hereditary hypotrichosis

  1. 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

  2. Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis

    The Journal of Dermatology

    Volume 42, Issue 8, August 2015, Pages: 822–824, Maria Bou Sleiman, Maroun Bou Sleiman, Ossama Abbas, Waed Btadini, Tracy Najjar, Mona Tofaili, Adele Chedraoui, Samar Khalil, Abdul Ghani Kibbi and Mazen Kurban

    Version of Record online : 5 JUN 2015, DOI: 10.1111/1346-8138.12939

  3. Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family

    The Journal of Dermatology

    Volume 44, Issue 8, August 2017, Pages: e184–e185, Kazue Yoshida, Ryota Hayashi, Yutaka Shimomura and Hironori Niizeki

    Version of Record online : 13 APR 2017, DOI: 10.1111/1346-8138.13868

  4. Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis

    The Journal of Dermatology

    Volume 44, Issue 10, October 2017, Pages: 1185–1186, Eriko Itoh, Takeshi Nakahara, Minao Furumura, Masutaka Furue and Yutaka Shimomura

    Version of Record online : 24 OCT 2016, DOI: 10.1111/1346-8138.13660

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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

  6. You have free access to this content
    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

  7. 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

  8. 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

  9. Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene

    The Journal of Dermatology

    Volume 40, Issue 4, April 2013, Pages: 281–283, Ryota Hayashi, Muhammad Farooq, Hiroki Fujikawa, Atsushi Fujimoto, Tsuyoshi Hashimoto, Masaaki Ito and Yutaka Shimomura

    Version of Record online : 7 JAN 2013, DOI: 10.1111/1346-8138.12077

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    Severe scoliosis associated with the WNT10A mutation

    The Journal of Dermatology

    Volume 42, Issue 3, March 2015, Pages: 322–323, Hanako Koguchi-Yoshioka, Mari Wataya-Kaneda, Hajime Nakano, Atsushi Tanemura, Eijiro Akasaka, Daisuke Sawamura and Ichiro Katayama

    Version of Record online : 9 JAN 2015, DOI: 10.1111/1346-8138.12762

  11. Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene

    The Journal of Dermatology

    Volume 41, Issue 12, December 2014, Pages: 1109–1110, Ryota Hayashi, Toshinori Bito, Mariko Taniguchi-Ikeda, Muhammad Farooq, Masaaki Ito and Yutaka Shimomura

    Version of Record online : 19 OCT 2014, DOI: 10.1111/1346-8138.12656

  12. 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

  13. Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family

    The Journal of Dermatology

    Volume 40, Issue 11, November 2013, Pages: 927–928, Muhammad S. Ahmed, Sobiah Rauf, Muhammad Naeem, Muhammad N. Khan and Asif Mir

    Version of Record online : 20 SEP 2013, DOI: 10.1111/1346-8138.12266

  14. Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

    The Journal of Dermatology

    Volume 41, Issue 12, December 2014, Pages: 1110–1112, Yuichi Kurihara, Ryota Hayashi, Emiko Watanabe, Shun-ichi Miyakawa, Kumiko Kajiwara, Maiko Matsuda, Kazue Yoshida, Yutaka Shimomura and Hironori Niizeki

    Version of Record online : 1 DEC 2014, DOI: 10.1111/1346-8138.12701

  15. Conditional restoration and inactivation of Rbm47 reveal its tissue-context requirement for viability and growth

    genesis

    Volume 54, Issue 3, March 2016, Pages: 115–122, Nicolas Fossat, Tania Radziewic, Vanessa Jones, Karin Tourle and Patrick P. L. Tam

    Version of Record online : 5 FEB 2016, DOI: 10.1002/dvg.22920

  16. Translocation of the MAML2 gene in hidradenocarcinoma

    The Journal of Dermatology

    Volume 44, Issue 8, August 2017, Pages: e190–e191, Kosuke Yoshimi, Hiroyuki Goto, Masaki Otsuka, Shusuke Yoshikawa, Toshikazu Omodaka and Yoshio Kiyohara

    Version of Record online : 11 MAR 2017, DOI: 10.1111/1346-8138.13830

  17. Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa

    The Journal of Dermatology

    Volume 41, Issue 11, November 2014, Pages: 1018–1019, Tomoko Kitazawa, Tamihiro Kawakami, Maya Matsuoka, Satoko Kimura, Yoshinao Soma and Hajime Nakano

    Version of Record online : 25 OCT 2014, DOI: 10.1111/1346-8138.12648

  18. Conditional cell ablation via diphtheria toxin reveals distinct requirements for the basal plate in the regional identity of diencephalic subpopulations

    genesis

    Volume 53, Issue 6, June 2015, Pages: 356–365, Bumwhee Lee, Duc Tri Lam, Kwanghee Baek, Jaeseung Yoon and Yongsu Jeong

    Version of Record online : 25 MAY 2015, DOI: 10.1002/dvg.22857

  19. Molecular identification of intramuscular and subcutaneous Spirometra erinaceiuropaei sparganosis in a Japanese patient

    The Journal of Dermatology

    Volume 44, Issue 6, June 2017, Pages: e138–e139, Tomoko Kudo, Ai Fujioka, Masataka Korenaga, Hiroshi Yamasaki, Yasuyuki Morishima, Hiromu Sugiyama, Hideki Nakajima and Shigetoshi Sano

    Version of Record online : 20 JAN 2017, DOI: 10.1111/1346-8138.13739

  20. Molecular characterization of a 4 409 480 bp deletion of the human X chromosome in a patient with haemophilia B

    Haemophilia

    Volume 20, Issue 3, May 2014, Pages: e230–e234, J. Hewitt, E. M. H. Chou, L. A. Brown, V. C. Smith, S.-L. Yong, L. D. Wadsworth, J. K. Wu and R. T. A. MacGillivray

    Version of Record online : 3 MAR 2014, DOI: 10.1111/hae.12395