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Journal Abstract Search

575 related items for PubMed ID: 19766349

  • 1. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
    Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A.
    J Am Acad Dermatol; 2009 Nov; 61(5):813-8. PubMed ID: 19766349
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  • 2. 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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  • 3. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
    Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E.
    Arch Dermatol Res; 2009 Jun; 301(5):391-3. PubMed ID: 18820939
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  • 4. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
    Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W.
    J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
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  • 5. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
    Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC.
    Arch Dermatol Res; 2009 Sep; 301(8):621-4. PubMed ID: 19529952
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  • 6. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
    Jelani M, Wasif N, Ali G, Chishti M, Ahmad W.
    Clin Genet; 2008 Aug; 74(2):184-8. PubMed ID: 18445047
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  • 9. 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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  • 10. 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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  • 11. A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
    Tariq M, Azhar A, Baig SM, Dahl N, Klar J.
    Sci Rep; 2012 Jan; 2():730. PubMed ID: 23066499
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  • 13. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
    Chang XD, Gu YJ, Dai S, Chen XR, Zhang CL, Zhao HS, Song QH.
    Mutagenesis; 2017 Dec 31; 32(6):599-606. PubMed ID: 29346610
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  • 15. A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).
    Kamran-ul-Hassan Naqvi S, Raza SI, Naveed AK, John P, Ahmad W.
    Br J Dermatol; 2009 Jan 31; 160(1):194-6. PubMed ID: 18795930
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  • 16. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
    Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI.
    Science; 2006 Nov 10; 314(5801):982-5. PubMed ID: 17095700
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  • 18. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
    Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H.
    Hum Mutat; 2010 May 10; 31(5):602-10. PubMed ID: 20213768
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