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Results: 1 to 20 of 672

1.

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]
2.

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]
3.

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]
4.

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]
5.

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]
6.

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]
7.

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]
8.

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;160(1):194-6. doi: 10.1111/j.1365-2133.2008.08822.x. Epub 2008 Sep 15. No abstract available.

PMID:
18795930
[PubMed - indexed for MEDLINE]
9.

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
10.

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.

Clin Genet. 2007 Jul;72(1):23-9.

PMID:
17594396
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

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
14.

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
15.

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
16.

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]
17.

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]
18.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
[PubMed - indexed for MEDLINE]
19.

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
20.

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. 2014 Mar 13. doi: 10.1111/ajd.12157. [Epub ahead of print]

PMID:
24628704
[PubMed - as supplied by publisher]

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