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Items: 1 to 20 of 412

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.

John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W.

Arch Dermatol Res. 2006 Aug;298(3):135-7. Epub 2006 Jun 13.

PMID:
16770573
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
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;2:730. doi: 10.1038/srep00730. Epub 2012 Oct 12.

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
13.
14.

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
15.

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
16.

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.

17.

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
18.

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
19.

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.

20.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

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