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Results: 1 to 20 of 127

1.

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.

Nahum S, Morice-Picard F, Taieb A, Sprecher E.

Clin Exp Dermatol. 2011 Mar;36(2):188-94. doi: 10.1111/j.1365-2230.2010.03944.x. Epub 2010 Nov 10.

PMID:
21070332
[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.

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. doi: 10.1016/j.jdermsci.2008.12.001. Epub 2009 Jan 23.

PMID:
19167195
[PubMed - indexed for MEDLINE]
4.

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]
5.

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.

Azhar A, Tariq M, Baig SM, Dahl N, Klar J.

Eur J Dermatol. 2012 Jul-Aug;22(4):464-6. doi: 10.1684/ejd.2012.1731.

PMID:
22531990
[PubMed - indexed for MEDLINE]
6.

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]
7.

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

Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.

Br J Dermatol. 2009 May;160(5):1006-10. doi: 10.1111/j.1365-2133.2009.09046.x. Epub 2009 Mar 9.

PMID:
19292720
[PubMed - indexed for MEDLINE]
8.

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;31(5):602-10. doi: 10.1002/humu.21235.

PMID:
20213768
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1111/j.1399-0004.2008.01011.x. Epub 2008 Apr 28.

PMID:
18445047
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W.

Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7.

PMID:
18461368
[PubMed - indexed for MEDLINE]
12.

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Ali G, Chishti MS, Raza SI, John P, Ahmad W.

Hum Genet. 2007 May;121(3-4):319-25. Epub 2007 Feb 27.

PMID:
17333281
[PubMed - indexed for MEDLINE]
13.

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]
14.

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]
15.

A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis.

Liu LH, Chen G, Wang JW, Liu SX, Wang JB, Zhou FS, Zhu J, Sun LD, Gao M, Wang PG, Yang S, Zhang XJ.

Clin Exp Dermatol. 2013 Oct;38(7):796-8. doi: 10.1111/ced.12129. Epub 2013 Jun 18. No abstract available.

PMID:
23773027
[PubMed - indexed for MEDLINE]
16.

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.

Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM.

J Invest Dermatol. 2006 Jun;126(6):1286-91.

PMID:
16543896
[PubMed - indexed for MEDLINE]
Free Article
17.

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]
18.

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM.

Hum Hered. 2009;68(2):117-30. doi: 10.1159/000212504. Epub 2009 Apr 9.

PMID:
19365138
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.

Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM.

J Investig Dermatol Symp Proc. 2005 Dec;10(3):222-4.

PMID:
16382669
[PubMed - indexed for MEDLINE]
Free Article
20.

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.

PMID:
23066499
[PubMed - indexed for MEDLINE]
Free PMC Article

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