Wajid M - Search Results

1

Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM. Shimomura Y, et al. Among authors: wajid m. Am J Hum Genet. 2010 Apr 9;86(4):632-8. doi: 10.1016/j.ajhg.2010.02.025. Epub 2010 Mar 25. Am J Hum Genet. 2010. PMID: 20346438 Free PMC article.

2

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M, Wajid M, Shimomura Y, Christiano AM. Kurban M, et al. Among authors: wajid m. J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5. J Eur Acad Dermatol Venereol. 2013. PMID: 22385360 Free PMC article.

3

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. Shimomura Y, et al. Among authors: wajid m. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297072

4

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Shimomura Y, et al. Among authors: wajid m. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2. J Invest Dermatol. 2009. PMID: 18830268 Free article.

5

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. Shimomura Y, et al. Among authors: wajid m. J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. Epub 2009 Mar 5. J Invest Dermatol. 2009. PMID: 19262606 Free PMC article.

6

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. Petukhova L, et al. Among authors: wajid m. Hum Hered. 2009;68(2):117-30. doi: 10.1159/000212504. Epub 2009 Apr 9. Hum Hered. 2009. PMID: 19365138 Free PMC article.

7

NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.

Wajid M, Kurban M, Shimomura Y, Christiano AM. Wajid M, et al. Dermatology. 2010;220(1):8-14. doi: 10.1159/000265757. Epub 2009 Dec 10. Dermatology. 2010. PMID: 20016120 Free PMC article.

8

Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.

Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM. Kiuru M, et al. Among authors: wajid m. Am J Hum Genet. 2011 Jun 10;88(6):839-844. doi: 10.1016/j.ajhg.2011.05.014. Am J Hum Genet. 2011. PMID: 21665001 Free PMC article.

9

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.

Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM. Kurban M, et al. Among authors: wajid m. J Hum Genet. 2011 Oct;56(10):701-6. doi: 10.1038/jhg.2011.84. Epub 2011 Aug 4. J Hum Genet. 2011. PMID: 21814222 Free PMC article.

10

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Cabral RM, et al. Among authors: wajid m. Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25. Genomics. 2012. PMID: 22289416 Free PMC article.

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