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Journal Abstract Search

204 related items for PubMed ID: 25899282

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  • 2. Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.
    Mizukami Y, Hayashi R, Tsuruta D, Shimomura Y, Sugawara K.
    J Dermatol; 2018 May; 45(5):613-617. PubMed ID: 29464811
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  • 3. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
    Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M.
    PLoS One; 2014 May; 9(2):e89261. PubMed ID: 24586639
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  • 4. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
    Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M.
    J Eur Acad Dermatol Venereol; 2013 Sep; 27(9):1182-4. PubMed ID: 22449147
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  • 8. Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis.
    Sleiman MB, Sleiman MB, Abbas O, Btadini W, Najjar T, Tofaili M, Chedraoui A, Khalil S, Kibbi AG, Kurban M.
    J Dermatol; 2015 Aug; 42(8):822-4. PubMed ID: 26046953
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  • 10. Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis.
    Itoh E, Nakahara T, Furumura M, Furue M, Shimomura Y.
    J Dermatol; 2017 Oct; 44(10):1185-1186. PubMed ID: 27774676
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  • 12. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
    Ahmad F, Sharif S, Furqan Ubaid M, Shah K, Khan MN, Umair M, Azeem Z, Ahmad W.
    Congenit Anom (Kyoto); 2018 Jan; 58(1):24-28. PubMed ID: 28425126
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  • 13. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
    Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.
    Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374
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  • 14. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
    Akiyama M.
    J Eur Acad Dermatol Venereol; 2021 Sep; 35(9):1788-1796. PubMed ID: 33988877
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  • 15. A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.
    Hamada K, Kubo R, Nishio D, Nakamura M.
    Eur J Dermatol; 2014 Sep; 24(2):272-3. PubMed ID: 24722066
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  • 17. Two cases of autosomal recessive woolly hair with LIPH gene mutations.
    Harada K, Inozume T, Kawamura T, Shibagaki N, Kinoshita T, Deguchi N, Shimada S.
    Int J Dermatol; 2013 May; 52(5):572-4. PubMed ID: 23590372
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  • 19. Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
    Shah SH, Abid A, Shahid S, Khaliq S.
    J Pak Med Assoc; 2011 Nov; 61(11):1060-4. PubMed ID: 22125978
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  • 20. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
    Fujimoto A, Farooq M, Fujikawa H, Inoue A, Ohyama M, Ehama R, Nakanishi J, Hagihara M, Iwabuchi T, Aoki J, Ito M, Shimomura Y.
    J Invest Dermatol; 2012 Oct; 132(10):2342-2349. PubMed ID: 22592156
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