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Results: 1 to 20 of 130

1.

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

Shimomura Y.

J Dermatol. 2012 Jan;39(1):3-10. doi: 10.1111/j.1346-8138.2011.01395.x. Epub 2011 Nov 2. Review.

PMID:
22044263
[PubMed - indexed for MEDLINE]
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. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.

PMID:
21426374
[PubMed - indexed for MEDLINE]
3.

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):2342-9. doi: 10.1038/jid.2012.154. Epub 2012 May 17.

PMID:
22592156
[PubMed - indexed for MEDLINE]
Free Article
4.

Keratin 71 mutations: from water dogs to woolly hair.

Harel S, Christiano AM.

J Invest Dermatol. 2012 Oct;132(10):2315-7. doi: 10.1038/jid.2012.291.

PMID:
22971920
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
24586639
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
19262606
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M.

J Invest Dermatol. 2006 Jun;126(6):1281-5.

PMID:
16439973
[PubMed - indexed for MEDLINE]
Free Article
8.

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

Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F.

J Dermatol. 2011 Sep;38(9):900-4. doi: 10.1111/j.1346-8138.2010.01101.x. Epub 2011 Feb 1.

PMID:
21352330
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.

Mahmoudi H, Tug E, Parlak AH, Atasoy HI, Ludwig M, Polat M, Pasternack SM, Betz RC.

Exp Dermatol. 2012 Jun;21(6):469-71. doi: 10.1111/j.1600-0625.2012.01504.x.

PMID:
22621192
[PubMed - indexed for MEDLINE]
12.

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M, Wajid M, Shimomura Y, Christiano AM.

J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5.

PMID:
22385360
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.

Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC.

J Invest Dermatol. 2009 Dec;129(12):2772-6. doi: 10.1038/jid.2009.154. Epub 2009 Jun 18.

PMID:
19536142
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W.

Hum Genet. 2011 Apr;129(4):419-24. doi: 10.1007/s00439-010-0938-9. Epub 2010 Dec 28.

PMID:
21188418
[PubMed - indexed for MEDLINE]
16.

The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.

Shinkuma S, Inoue A, Aoki J, Nishie W, Natsuga K, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H.

J Invest Dermatol. 2012 Aug;132(8):2093-5. doi: 10.1038/jid.2012.96. Epub 2012 Apr 5. No abstract available.

PMID:
22475755
[PubMed - indexed for MEDLINE]
Free Article
17.

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.

J Invest Dermatol. 2006 Jun;126(6):1292-6.

PMID:
16575393
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
18830268
[PubMed - indexed for MEDLINE]
Free Article
19.

Biology and genetics of hair.

Shimomura Y, Christiano AM.

Annu Rev Genomics Hum Genet. 2010;11:109-32. doi: 10.1146/annurev-genom-021610-131501. Review.

PMID:
20590427
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
22125978
[PubMed - indexed for MEDLINE]
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