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Items: 1 to 20 of 101

1.

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.

Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM.

J Invest Dermatol. 2007 Jul;127(7):1779-82. Epub 2007 Mar 29. No abstract available.

2.

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
3.

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM.

J Invest Dermatol. 2005 Nov;125(5):1077-9. No abstract available.

4.

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.

5.

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.

6.

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
7.

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
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.

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.

Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W.

J Invest Dermatol. 2004 Jul;123(1):247-8. No abstract available.

10.

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM.

J Invest Dermatol. 2004 Sep;123(3):607-10. No abstract available.

11.

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.

12.

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
13.

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
15.

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W.

Eur J Hum Genet. 2003 Aug;11(8):623-8.

16.

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
17.

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
18.

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
19.

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.

20.

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