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Items: 1 to 20 of 94

1.

Woolly antics between the sheaths.

Tobin DJ.

J Invest Dermatol. 2009 Mar;129(3):540-2. doi: 10.1038/jid.2008.429. Review.

2.

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. doi: 10.1016/j.jaad.2009.04.020. Epub 2009 Sep 18.

PMID:
19766349
3.

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;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12.

4.

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 Feb 19;9(2):e89261. doi: 10.1371/journal.pone.0089261. eCollection 2014.

5.

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.

Mehmood S, Shah SH, Jan A, Younus M, Ahmad F, Ayub M, Ahmad W.

Pediatr Dermatol. 2016 Jan-Feb;33(1):e40-2. doi: 10.1111/pde.12727. Epub 2015 Dec 8.

PMID:
26645693
6.

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. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.

PMID:
21426374
7.

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

Mehmood S, Jan A, Muhammad D, Ahmad F, Mir H, Younus M, Ali G, Ayub M, Ansar M, Ahmad W.

Australas J Dermatol. 2015 Aug;56(3):e66-70. doi: 10.1111/ajd.12157. Epub 2014 Mar 13.

PMID:
24628704
8.

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Ito M, Christiano AM.

J Dermatol Sci. 2009 Dec;56(3):205-7. doi: 10.1016/j.jdermsci.2009.08.005. Epub 2009 Nov 4. No abstract available.

9.

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM.

J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. Epub 2009 Mar 5.

10.

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. doi: 10.1111/j.1468-3083.2012.04526.x. Epub 2012 Mar 26.

PMID:
22449147
11.
12.

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. doi: 10.1007/s00403-009-0971-5. Epub 2009 Jun 16.

PMID:
19529952
13.
14.

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. doi: 10.1111/1346-8138.12939. Epub 2015 Jun 5. No abstract available.

PMID:
26046953
15.

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. doi: 10.1007/s00403-008-0903-9. Epub 2008 Sep 27.

PMID:
18820939
16.

Journey toward unraveling the molecular basis of hereditary hair disorders.

Shimomura Y.

J Dermatol Sci. 2016 Dec;84(3):232-238. doi: 10.1016/j.jdermsci.2016.08.006. Epub 2016 Aug 7. Review.

PMID:
27523806
17.

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM.

J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2.

18.

Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias.

Suga H, Tsunemi Y, Sugaya M, Shinkuma S, Akiyama M, Shimizu H, Sato S.

Acta Derm Venereol. 2011 Jun;91(4):486-8. doi: 10.2340/00015555-1095. Review. No abstract available.

19.

Keratin 71 mutations: from water dogs to woolly hair.

Harel S, Christiano AM.

J Invest Dermatol. 2012 Oct;132(10):2315-2317. doi: 10.1038/jid.2012.291.

20.

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.

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