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Items: 1 to 20 of 276

1.

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
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
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
4.

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
5.

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
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.

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
8.

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
9.

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM.

Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 Feb 24.

PMID:
18297072
10.

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
11.

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
12.

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W.

Hum Genet. 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9.

PMID:
20054564
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
14.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W.

Neurogenetics. 2006 May;7(2):105-10. Epub 2006 Apr 21.

PMID:
16673149
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
16.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Petukhova L, Sousa EC Jr, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM.

Genomics. 2008 Nov;92(5):273-8. doi: 10.1016/j.ygeno.2008.06.009. Epub 2008 Sep 13.

17.

A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis.

Horev L, Saad-Edin B, Ingber A, Zlotogorski A.

J Eur Acad Dermatol Venereol. 2010 Jul;24(7):858-9. doi: 10.1111/j.1468-3083.2009.03514.x. Epub 2009 Dec 8. No abstract available.

PMID:
20015179
18.
19.

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
20.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Basit S, Ali G, Wasif N, Ansar M, Ahmad W.

Hum Genet. 2010 Aug;128(2):213-20. doi: 10.1007/s00439-010-0847-y. Epub 2010 Jun 11.

PMID:
20544222

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