Sandilands A - Search Results

1

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.

Yu X, Chen F, Ni C, Zhang G, Zheng L, Zhang J, Li C, Sandilands A, Yao Z, Li M. Yu X, et al. Among authors: sandilands a. J Invest Dermatol. 2018 Jan;138(1):230-233. doi: 10.1016/j.jid.2017.08.035. Epub 2017 Sep 9. J Invest Dermatol. 2018. PMID: 28899683 Free article. No abstract available.

2

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect.

Brown SJ, Kroboth K, Sandilands A, Campbell LE, Pohler E, Kezic S, Cordell HJ, McLean WH, Irvine AD. Brown SJ, et al. Among authors: sandilands a. J Invest Dermatol. 2012 Jan;132(1):98-104. doi: 10.1038/jid.2011.342. Epub 2011 Nov 10. J Invest Dermatol. 2012. PMID: 22071473 Free PMC article.

3

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Bochner R, et al. Among authors: sandilands a. J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769845 Free article.

4

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Pohler E, et al. Among authors: sandilands a. Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. Br J Dermatol. 2015. PMID: 25965869 Free PMC article. No abstract available.

5

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Sandilands A, Smith FJ, Irvine AD, McLean WH. Sandilands A, et al. J Invest Dermatol. 2007 Jun;127(6):1282-4. doi: 10.1038/sj.jid.5700876. J Invest Dermatol. 2007. PMID: 17502856 Free article. Review.

6

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.

Chen H, Ho JC, Sandilands A, Chan YC, Giam YC, Evans AT, Lane EB, McLean WH. Chen H, et al. Among authors: sandilands a. J Invest Dermatol. 2008 Jul;128(7):1669-75. doi: 10.1038/sj.jid.2008.2. Epub 2008 Jan 31. J Invest Dermatol. 2008. PMID: 18239616 Free article.

7

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.

Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CN, Shimizu H, McLean WH. Nomura T, et al. Among authors: sandilands a. J Invest Dermatol. 2008 Jun;128(6):1436-41. doi: 10.1038/sj.jid.5701205. Epub 2008 Jan 17. J Invest Dermatol. 2008. PMID: 18200065 Free article.

8

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.

Sandilands A, O'Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, Cassidy AJ, Goudie DR, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. J Invest Dermatol. 2006 Aug;126(8):1770-5. doi: 10.1038/sj.jid.5700459. Epub 2006 Jun 29. J Invest Dermatol. 2006. PMID: 16810297 Free article.

9

Clinical severity correlates with impaired barrier in filaggrin-related eczema.

Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H. Nemoto-Hasebe I, et al. Among authors: sandilands a. J Invest Dermatol. 2009 Mar;129(3):682-9. doi: 10.1038/jid.2008.280. Epub 2008 Sep 25. J Invest Dermatol. 2009. PMID: 18818676 Free article.

10

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

Lovgren ML, McAleer MA, Irvine AD, Wilson NJ, Tavadia S, Schwartz ME, Cole C, Sandilands A, Smith FJD, Zamiri M. Lovgren ML, et al. Among authors: sandilands a. Br J Dermatol. 2017 May;176(5):1345-1350. doi: 10.1111/bjd.14973. Epub 2017 Apr 2. Br J Dermatol. 2017. PMID: 27534273 Free PMC article.

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