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There are 11985 results for: content related to: A novel deletion mutation in the phospholipase H ( LIPH ) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2)

  1. Genetics of human isolated hereditary hair loss disorders

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 203–212, S. Basit, S. Khan and W. Ahmad

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12531

  2. You have full text access to this OnlineOpen article
    Long-term safety and efficacy of bimatoprost solution 0·03% application to the eyelid margin for the treatment of idiopathic and chemotherapy-induced eyelash hypotrichosis: a randomized controlled trial

    British Journal of Dermatology

    Volume 172, Issue 5, May 2015, Pages: 1384–1394, D.A. Glaser, P. Hossain, W. Perkins, T. Griffiths, G. Ahluwalia, E. Weng and F.C. Beddingfield

    Version of Record online : 7 MAR 2015, DOI: 10.1111/bjd.13443

  3. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

    Clinical Genetics

    Volume 79, Issue 3, March 2011, Pages: 273–281, S Basit, A Wali, A Aziz, N Muhammad, M Jelani and W Ahmad

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01455.x

  4. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood

    Journal of the European Academy of Dermatology and Venereology

    Volume 27, Issue 9, September 2013, Pages: 1182–1184, K. Tanahashi, K. Sugiura, T. Takeichi, H. Takama, S. Shinkuma, H. Shimizu and M. Akiyama

    Version of Record online : 26 MAR 2012, DOI: 10.1111/j.1468-3083.2012.04526.x

  5. Congenital hair loss disorders: Rare, but not too rare

    The Journal of Dermatology

    Volume 39, Issue 1, January 2012, Pages: 3–10, Yutaka SHIMOMURA

    Version of Record online : 2 NOV 2011, DOI: 10.1111/j.1346-8138.2011.01395.x

  6. A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families

    Clinical and Experimental Dermatology

    Volume 40, Issue 1, January 2015, Pages: 78–84, A. Ullah, S. I. Raza, R. H. Ali, A. K. Naveed, A. Jan, S. D. A. Rizvi, R. Satti and W. Ahmad

    Version of Record online : 23 SEP 2014, DOI: 10.1111/ced.12457

  7. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 184–188, M Jelani, N Wasif, G Ali, MS Chishti and W Ahmad

    Version of Record online : 28 APR 2008, DOI: 10.1111/j.1399-0004.2008.01011.x

  8. Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair

    Australasian Journal of Dermatology

    Volume 56, Issue 3, August 2015, Pages: e66–e70, Sabba Mehmood, Abid Jan, Dost Muhammad, Farooq Ahmad, Hina Mir, Muhammad Younus, Ghazanfar Ali, Muhammad Ayub, Muhammad Ansar and Wasim Ahmad

    Version of Record online : 13 MAR 2014, DOI: 10.1111/ajd.12157

  9. Genetics of Alopecia

    Standard Article

    eLS

    Shigeki Inui

    Published Online : 16 APR 2012, DOI: 10.1002/9780470015902.a0023882

  10. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

    British Journal of Dermatology

    Volume 160, Issue 5, May 2009, Pages: 1006–1010, M. Tariq, M. Ayub, M. Jelani, S. Basit, G. Naz, N. Wasif, S.I. Raza, A.K. Naveed, S. Ullah Khan, Z. Azeem, M. Yasinzai, A. Wali, G. Ali, M.S. Chishti and W. Ahmad

    Version of Record online : 9 MAR 2009, DOI: 10.1111/j.1365-2133.2009.09046.x

  11. A Sporadic Case of Congenital Hypotrichosis Simplex of the Scalp: Difficulties in Diagnosis and Classification

    Pediatric Dermatology

    Volume 16, Issue 4, July/August 1999, Pages: 301–304, Stefano Cambiaghi and Mauro Barbareschi

    Version of Record online : 4 JAN 2002, DOI: 10.1046/j.1525-1470.1999.00079.x

  12. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan

    Clinical and Experimental Dermatology

    Volume 36, Issue 6, August 2011, Pages: 652–654, S. Khan, R. Habib, H. Mir,   Umm-e-Kalsoom, G. Naz, M. Ayub, S. Shafique, T. Yamin, N. Ali, S. Basit, N. Wasif, S. Kamran-ul-Hassan Naqvi, G. Ali, A. Wali, M. Ansar and W. Ahmad

    Version of Record online : 21 MAR 2011, DOI: 10.1111/j.1365-2230.2011.04014.x

  13. Congenital hypotrichosis

    International Journal of Dermatology

    Volume 38, Issue S1, May 1999, Pages: 25–33, David De Berker

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1365-4362.1999.00005.x

  14. Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation

    British Journal of Dermatology

    Accepted manuscript online: 4 JUL 2016, M. Kinoshita-Ise, A. Kubo, T. Sasaki, N. Umegaki-Arao, M. Amagai and M. Ohyama

    DOI: 10.1111/bjd.14836

  15. Ectodermal Dysplasias

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Yuka Asai, Alan D. Irvine, Pages: 127.1–127.104, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch127

  16. Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair

    The Journal of Dermatology

    Volume 41, Issue 10, October 2014, Pages: 890–894, Ryota Hayashi, Shigeki Inui, Muhammad Farooq, Masaaki Ito and Yutaka Shimomura

    Version of Record online : 1 OCT 2014, DOI: 10.1111/1346-8138.12623

  17. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32

    Clinical Genetics

    Volume 72, Issue 1, July 2007, Pages: 23–29, A Wali, MS Chishti, M Ayub, M Yasinzai, , G Ali, P John and W Ahmad

    Version of Record online : 27 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00818.x

  18. Hereditary hypotrichosis of the scalp

    American Journal of Medical Genetics

    Volume 39, Issue 2, 1 May 1991, Pages: 125–129, Dr. Russell O. Hess and Hideo Uno

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320390202

  19. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair

    The Journal of Dermatology

    Volume 38, Issue 9, September 2011, Pages: 900–904, Takashi YOSHIMASU, Nobuo KANAZAWA, Naotomo KAMBE, Motonobu NAKAMURA and Fukumi FURUKAWA

    Version of Record online : 1 FEB 2011, DOI: 10.1111/j.1346-8138.2010.01101.x

  20. Multiple familial and pigmented basal cell carcinomas in early childhood – Bazex–Dupré–Christol syndrome

    Journal of the European Academy of Dermatology and Venereology

    Volume 26, Issue 1, January 2012, Pages: 117–121, F. Abuzahra, L.J.M.T. Parren and J. Frank

    Version of Record online : 24 MAR 2011, DOI: 10.1111/j.1468-3083.2011.04048.x