Sandilands, Aileen

Dr

  • 6832 Citations
  • 36 h-Index
19952018
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Research Output 1995 2018

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Letter
2018
3 Citations (Scopus)
83 Downloads (Pure)

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., Jan 2018, In : Journal of Investigative Dermatology. 138, 1, p. 230-233 4 p.

Research output: Contribution to journalLetter

Open Access
File
8 Citations (Scopus)
136 Downloads (Pure)

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In : Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

Research output: Contribution to journalLetter

Open Access
File
Atopic Dermatitis
Genes
Costs and Cost Analysis
Polymerase Chain Reaction
filaggrin
2015
3 Citations (Scopus)
71 Downloads (Pure)

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In : British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.

Research output: Contribution to journalLetter

Open Access
File
2014
35 Citations (Scopus)

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., Campbell, L. E., O'Regan, G. M., McLean, W. H. I., Irvine, A. D., Kezic, S. & Sandilands, A., Jan 2014, In : Journal of Allergy and Clinical Immunology. 133, 1, p. 280-282.e1-e2 5 p.

Research output: Contribution to journalLetter

2013
4 Citations (Scopus)

Reliability and validity of genotyping filaggrin null mutations

Margolis, D. J., Apter, A. J., Mitra, N., Gupta, J., Hoffstad, O., Papadopoulos, M., Rebbeck, T. R., MacCallum, S., Campbell, L. E., Sandilands, A. & McLean, W. H. I., Apr 2013, In : Journal of Dermatological Science. 70, 1, p. 67-68 2 p.

Research output: Contribution to journalLetter

2012
4 Citations (Scopus)

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

Sandilands, A., Brown, S. J., Goh, C. S., Pohler, E., Wilson, N. J., Campbell, L. E., Miyamoto, K., Kubo, A., Irvine, A. D., Thawer-Esmail, F., Munro, C. S., McLean, W. H. I., Kudoh, J., Amagai, M. & Matsui, T., May 2012, In : Journal of Investigative Dermatology. 132, 5, p. 1507-1510 4 p.

Research output: Contribution to journalLetter

2010
7 Citations (Scopus)

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

Gruber, R., Janecke, A. R., Grabher, D., Sandilands, A., Fauth, C. & Schmuth, M., 13 Apr 2010, In : Journal of Dermatological Science. 58, 1, p. 72-75 4 p.

Research output: Contribution to journalLetter

26 Citations (Scopus)

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

Osawa, R., Konno, S., Akiyama, M., Nemoto-Hasebe, I., Nomura, T., Nomura, Y., Abe, R., Sandilands, A., McLean, W. H. I., Hizawa, N., Nishimura, M. & Shimizu, H., Dec 2010, In : Journal of Investigative Dermatology. 130, 12, p. 2834-2836 3 p.

Research output: Contribution to journalLetter

2009
316 Citations (Scopus)

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming

Fallon, P. G., Sasaki, T., Sandilands, A., Campbell, L. E., Saunders, S. P., Mangan, N. E., Callanan, J. J., Kawasaki, H., Shiohama, A., Kubo, A., Sundberg, J. P., Presland, R. B., Fleckman, P., Shimizu, N., Kudoh, J., Irvine, A. D., Amagai, M. & McLean, W. H. I., May 2009, In : Nature Genetics. 41, 5, p. 602-608 7 p.

Research output: Contribution to journalLetter

34 Citations (Scopus)

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

Nomura, T., Akiyama, M., Sandilands, A., Nemoto-Hasebe, I., Sakai, K., Nagasaki, A., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I. & Shimizu, H., May 2009, In : Journal of Investigative Dermatology. 129, 5, p. 1302-1305 5 p.

Research output: Contribution to journalLetter

2008
30 Citations (Scopus)

De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis

Hamada, T., Sandilands, A., Fukuda, S., Sakaguchi, S., Ohyama, B., Yasumoto, S., McLean, W. H. I. & Hashimoto, T., May 2008, In : Journal of Investigative Dermatology. 128, 5, p. 1323-1325 3 p.

Research output: Contribution to journalLetter

73 Citations (Scopus)

Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema

Brown, S. J., Sandilands, A., Zhao, Y., Liao, H., Relton, C. L., Meggitt, S. J., Trembath, R. C., Barker, J. N. W. N., Reynolds, N. J., Cordell, H. J. & McLean, W. H. I., Jun 2008, In : Journal of Investigative Dermatology. 128, 6, p. 1591-1594 5 p.

Research output: Contribution to journalLetter

Open Access