Sandilands, Aileen

Dr

  • 6949 Citations
  • 37 h-Index
19952018
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Research Output 1995 2018

2018
3 Citations (Scopus)
93 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
9 Citations (Scopus)
162 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
2017
5 Citations (Scopus)
106 Downloads (Pure)

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, C. A., Isakov, O., Malchin, N., Vodo, D., Shayevitch, R., Peled, A., Yu, B. D., Fainberg, G., Warshauer, E., Adir, N., Erez, N., Gat, A., Gottlieb, Y., Rogers, T., Pavlovsky, M., Goldberg, I. & 9 others, Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.

Research output: Contribution to journalArticle

Open Access
File
Ichthyosis
Calpain
Skin
Hair Follicle
Exfoliative Dermatitis
10 Citations (Scopus)
89 Downloads (Pure)

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

Lovgren, M-L., McAleer, M. A., Irvine, A. D., Wilson, N. J., Tavadia, S., Schwartz, M. E., Cole, C., Sandilands, A., Smith, F. J. D. & Zamiri, M., 2 Apr 2017, In : British Journal of Dermatology.

Research output: Contribution to journalArticle

Open Access
File
Desmoglein 1
Palmoplantar Keratoderma
Genetic Testing
Phenotype
Mutation
2015
4 Citations (Scopus)

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

Mizuno, O., Nomura, T., Ohguchi, Y., Suzuki, S., Nomura, Y., Hamade, Y., Hoshina, D., Sandilands, A., Akiyama, M., McLean, W. H. I., Abe, R. & Shimizu, H., Apr 2015, In : Journal of the European Academy of Dermatology and Venereology. 29, 4, p. 805-808 4 p.

Research output: Contribution to journalArticle

Anaphylaxis
Exercise
Food
Mutation
Genes
3 Citations (Scopus)
86 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
1 Citation (Scopus)

A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

Ohguchi, Y., Nomura, T., Suzuki, S., Mizuno, O., Nomura, Y., Nemoto-Hasebe, I., Okamoto, H., Sandilands, A., Akiyama, M., Irwin McLean, W. H. & Shimizu, H., 2014, In : European Journal of Dermatology. 24, 4, p. 491-493 3 p.

Research output: Contribution to journalArticle

67 Citations (Scopus)
118 Downloads (Pure)

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

Cole, C., Kroboth, K., Schurch, N. J., Sandilands, A., Sherstnev, A., O'Regan, G. M., Watson, R. M., McLean, W. H. I., Barton, G. J., Irvine, A. D. & Brown, S. J., Jul 2014, In : Journal of Allergy and Clinical Immunology. 134, 1, p. 82-91 10 p.

Research output: Contribution to journalArticle

Open Access
File
Atopic Dermatitis
Pediatrics
Skin
Genotype
Extracellular Space
38 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

A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans

Goh, C. S., Saunders, S. P., Cole, C., Weidinger, S., Baurecht, H., Lee, Y., Reynolds, N. J., Barker, J. N., Cordell, H. J., Brown, S. J., Irvine, A. D., McLean, I., Sandilands, A. & Fallon, P. G., 2013, In : Journal of Investigative Dermatology. 133, S1, p. S145 1 p., 854.

Research output: Contribution to journalMeeting abstract

15 Citations (Scopus)

Generation and characterisation of keratin 7 (K7) knockout mice

Sandilands, A., Smith, F. J. D., Lunny, D. P., Campbell, L. E., Davidson, K. M., MacCallum, S. F., Corden, L. D., Christie, L., Fleming, S., Lane, E. B. & McLean, W. H. I., 31 May 2013, In : PLoS ONE. 8, 5, 11 p., e64404.

Research output: Contribution to journalArticle

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

71 Citations (Scopus)

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

Saunders, S. P., Goh, C. S. M., Brown, S. J., Palmer, C. N. A., Porter, R. M., Cole, C., Campbell, L. E., Gierlinski, M., Barton, G. J., Schneider, G., Balmain, A., Prescott, A. R., Weidinger, S., Baurecht, H., Kabesch, M., Gieger, C., Lee, Y-A., Tavendale, R., Mukhopadhyay, S., Turner, S. W. & 14 others, Madhok, V. B., Sullivan, F. M., Relton, C., Burn, J., Meggitt, S., Smith, C. H., Allen, M. A., Barker, J. N. W. N., Reynolds, N. J., Cordell, H. J., Irvine, A. D., McLean, W. H. I., Sandilands, A. & Fallon, P. G., Nov 2013, In : Journal of Allergy and Clinical Immunology. 132, 5, p. 1121-1129 9 p.

Research output: Contribution to journalArticle

Atopic Dermatitis
Skin
Genes
Mutation
Single Nucleotide Polymorphism
2012
125 Citations (Scopus)

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency

Kezic, S., O'Regan, G. M., Lutter, R., Jakasa, I., Koster, E. S., Saunders, S., Caspers, P., Kemperman, P. M. J. H., Puppels, G. J., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Fallon, P. G., McLean, W. H. I. & Irvine, A. D., Apr 2012, In : Journal of Allergy and Clinical Immunology. 129, 4, p. 1031-U542 10 p.

Research output: Contribution to journalArticle

Filaggrin mutations: Prognosis and response to therapy overtime

Margolis, D. J., Mitra, N., Sandilands, A., McLean, I. & Rebbeck, T., May 2012, In : Journal of Investigative Dermatology. 132, p. S41-S41 1 p.

Research output: Contribution to journalArticle

44 Citations (Scopus)

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Nomura, T., Irvine, A. D., Moran, B., Wilson, N. J., Smith, F. J. D., Goh, C. S. M., Sandilands, A., Cole, C., Barton, G. J., Evans, A. T., Shimizu, H., Akiyama, M., Suehiro, M., Konohana, I., Shboul, M. & 12 others, Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Brown, S. J., Goudie, D. R., Reversade, B., Munro, C. S. & McLean, W. H. I., Nov 2012, In : Nature Genetics. 44, 11, p. 1272-1276 5 p.

Research output: Contribution to journalArticle

Palmoplantar Keratoderma
Haploinsufficiency
Epidermal Growth Factor Receptor
Carrier Proteins
Vesicular Transport Adaptor Proteins
105 Citations (Scopus)
75 Downloads (Pure)

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

Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Kezic, S., Cordell, H. J., McLean, W. H. I. & Irvine, A. D., Jan 2012, In : Journal of Investigative Dermatology. 132, 1, p. 98-104 7 p.

Research output: Contribution to journalArticle

Open Access
File
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

93 Citations (Scopus)

The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort

Margolis, D. J., Apter, A. J., Gupta, J., Hoffstad, O., Papadopoulos, M., Campbell, L. E., Sandilands, A., McLean, W. H. I., Rebbeck, T. R. & Mitra, N., 2012, In : Journal of Allergy and Clinical Immunology. 130, 4, p. 912-917 6 p.

Research output: Contribution to journalArticle

2011

Copy number variation within the filaggrin gene contributes to risk of atopic dermatitis

Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Irvine, A. D., Cordell, H. J. & McLean, W., Apr 2011, In : Journal of Investigative Dermatology. 131, Supplement 1, p. S63-S63 1 p., 375.

Research output: Contribution to journalBook/Film/Article review

150 Citations (Scopus)

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

Gruber, R., Elias, P. M., Crumrine, D., Lin, T-K., Brandner, J. M., Hachem, J-P., Presland, R. B., Fleckman, P., Janecke, A. R., Sandilands, A., McLean, W. H. I., Fritsch, P. O., Mildner, M., Tschachler, E. & Schmuth, M., May 2011, In : American Journal of Pathology. 178, 5, p. 2252-2263 12 p.

Research output: Contribution to journalArticle

146 Citations (Scopus)

Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity

Kezic, S., O'Regan, G. M., Yau, N., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Rowland, M., McLean, W. H. I. & Irvine, A. D., 2011, In : Allergy. 66, 7, p. 934-940 7 p.

Research output: Contribution to journalArticle

63 Citations (Scopus)

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

Winge, M. C. G., Bilcha, K. D., Lieden, A., Shibeshi, D., Sandilands, A., Wahlgren, C-F., McLean, W. H. I., Nordenskjold, M. & Bradley, M., Nov 2011, In : British Journal of Dermatology. 165, 5, p. 1074-1080 7 p.

Research output: Contribution to journalArticle

77 Citations (Scopus)

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

Chen, H., Common, J. E. A., Haines, R. L., Balakrishnan, A., Brown, S. J., Goh, C. S. M., Cordell, H. J., Sandilands, A., Campbell, L. E., Kroboth, K., Irvine, A. D., Goh, D. L. M., Tang, M. B. Y., van Bever, H. P., Giam, Y. C., McLean, W. H. I. & Lane, E. B., Jul 2011, In : British Journal of Dermatology. 165, 1, p. 106-114 9 p.

Research output: Contribution to journalArticle

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

Filaggrin deficiency results in a dose-dependent impairment of the epidermal barrier in ichthyosis vulgaris

Gruber, R., Crumrine, D., Sandilands, A., Presland, R. B., Fleckman, P., McLean, W., Janecke, A. R., Elias, P. M. & Schmuth, M., Feb 2010, In : Experimental Dermatology. 19, 2, p. 176-176 1 p.

Research output: Contribution to journalBook/Film/Article review

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

90 Citations (Scopus)

Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes

O'Regan, G. M., Kemperman, P. M. J. H., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Rowland, M., Puppels, G. J., McLean, W. H. I., Caspers, P. J. & Irvine, A. D., Sep 2010, In : Journal of Allergy and Clinical Immunology. 126, 3, p. 574-U270 8 p.

Research output: Contribution to journalArticle

2009
321 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

28 Citations (Scopus)

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

Hsu, C-K., Akiyama, M., Nemoto-Hasebe, I., Nomura, T., Sandilands, A., Chao, S-C., Lee, J. Y-Y., Sheu, H-M., McLean, W. H. I. & Shimizu, H., Aug 2009, In : British Journal of Dermatology. 161, 2, p. 448-451 4 p.

Research output: Contribution to journalArticle

122 Citations (Scopus)

Clinical severity correlates with impaired barrier in filaggrin-related eczema

Nemoto-Hasebe, I., Akiyama, M., Nomura, T., Sandilands, A., McLean, W. H. I. & Shimizu, H., Mar 2009, In : Journal of Investigative Dermatology. 129, 3, p. 682-689 8 p.

Research output: Contribution to journalArticle

Filaggrin-deficient mice exhibit enhanced percutaneous antigen priming

Irvine, A. D., Fallon, P. G., Sasaki, T., Sandilands, A., Callanan, J. J., Presland, R. B., Fleckman, P., Kudoh, J., Amagai, M. & McLean, W., 2009, In : Journal of Investigative Dermatology. 129, p. S87 1 p., Abstract 519.

Research output: Contribution to journalBook/Film/Article review

60 Citations (Scopus)
80 Downloads (Pure)
Open Access
File
126 Citations (Scopus)

Filaggrin in atopic dermatitis (Reprinted from J Allergy Clin Immunol vol 122, pg 689-93, 2008)

O'Regan, G. M., Sandilands, A., McLean, W. H. I. & Irvine, A. D., Sep 2009, In : Journal of Allergy and Clinical Immunology. 124, 3, p. R2-R6 5 p.

Research output: Contribution to journalArticle

363 Citations (Scopus)

Filaggrin in the frontline: role in skin barrier function and disease

Sandilands, A., Sutherland, C., Irvine, A. D. & McLean, W. H. I., 1 May 2009, In : Journal of Cell Science. 122, 9, p. 1285-1294 10 p.

Research output: Contribution to journalArticle

53 Citations (Scopus)

FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

Nemoto-Hasebe, I., Akiyama, M., Nomura, T., Sandilands, A., McLean, W. H. . I. & Shimizu, H., Dec 2009, In : British Journal of Dermatology. 161, 6, p. 1387-1390 4 p.

Research output: Contribution to journalArticle

22 Citations (Scopus)

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

Oji, V., Seller, N., Sandilands, A., Gruber, R., Gerss, J., Hüffmeier, U., Hamm, H., Emmert, S., Aufenvenne, K., Metze, D., Luger, T., Loser, K., Hausser, I., Traupe, H. & McLean, W. H. I., 2009, In : British Journal of Dermatology. 160, 4, p. 771-781 11 p.

Research output: Contribution to journalArticle

35 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

Additional filaggrin polymorphisms in early-onset and persistent atopic eczema

Brown, S. J., Sandilands, A., Zhao, Y., Liao, H., Relton, C. L., Meggitt, S. J., Reynolds, N. J., Barker, J. N. W. N., Trembath, R. C., Cordell, H. J. & McLean, W. H. I., Dec 2008, In : British Journal of Dermatology. 159, 6, p. 1241-1242 2 p., P4.

Research output: Contribution to journalBook/Film/Article review

61 Citations (Scopus)

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger, S., Baurecht, H., Wagenpfeil, S., Henderson, J., Novak, N., Sandilands, A., Chen, H., Rodriguez, E., O'Regan, G. M., Watson, R., Liao, H., Zhao, Y., Barker, J. N. W. N., Allen, M., Reynolds, N., Meggitt, S., Northstone, K., Smith, G. D., Strobl, C., Stahl, C. & 10 others, Kneib, T., Klopp, N., Bieber, T., Behrendt, H., Palmer, C. N. A., Wichmann, H. -E., Ring, J., Illig, T., McLean, W. H. I. & Irvine, A. D., Sep 2008, In : Journal of Allergy and Clinical Immunology. 122, 3, p. 560-568 9 p.

Research output: Contribution to journalArticle

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

Evidence for founder effect of filaggrin mutations p.R501X, c.2282del4 and p.R2447X in ichthyosis vulgaris

Gruber, R., Janecke, A. R., Rabl, M., Oji, V., Traupe, H., Sandilands, A., McLean, W., Utermann, G., Frisch, P. O. & Schmuth, M., Mar 2008, In : Experimental Dermatology. 17, 3, p. 246-246 1 p., Abstract P027.

Research output: Contribution to journalBook/Film/Article review

216 Citations (Scopus)

Filaggrin in atopic dermatitis

O'Regan, G. M., Sandilands, A., McLean, W. H. I. & Irvine, A. D., Oct 2008, In : Journal of Allergy and Clinical Immunology. 122, 4, p. 689-693 5 p.

Research output: Contribution to journalReview article

Filaggrin mutations in atopic eczema: genotype-phenotype correlation

Brown, S., Relton, C., Liao, H., Zhao, Y., Sandilands, A., Burn, J., Cordell, H., McLean, W. H. I. & Reynolds, N., Jul 2008, In : British Journal of Dermatology. 159, Supplement s1, p. 11-11 1 p.

Research output: Contribution to journalMeeting abstract

89 Citations (Scopus)

Filaggrin null mutations and childhood atopic eczema: a population-based case-control study

Brown, S. J., Relton, C. L., Liao, H., Zhao, Y., Sandilands, A., Wilson, I. J., Burn, J., Reynolds, N. J., McLean, W. H. I. & Cordell, H. J., Apr 2008, In : Journal of Allergy and Clinical Immunology. 121, 4, p. 940-946.e3 7 p.

Research output: Contribution to journalArticle

Filaggrin null mutations in mild-moderate atopic eczema: a population-based case-control study

Brown, S., Relton, C. L., Liao, H., Zhao, Y., Sandilands, A., Wilson, I. J., Burn, J., Reynolds, N. J., McLean, W. & Cordell, H. J., Apr 2008, In : Journal of Investigative Dermatology. 128, S1, p. S112-S112 1 p., 670.

Research output: Contribution to journalMeeting abstract

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

Prevalent and rare filaggrin mutations in Japanese patients with ichthyosis vulgaris and atopic dermantitis

Nomura, T., Akiyama, M., Sandilands, A., Nemoto-Hasebe, I., Sakai, K., Nagasaki, A., Ota, M., Hata, H., Evans, A. T., Palmer, C., McLean, I. & Shimizu, H., Apr 2008, In : Journal of Investigative Dermatology. 128, s1, p. S99-S99 1 p.

Research output: Contribution to journalSpecial issue

102 Citations (Scopus)

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, A. T., Palmer, C. N. A., Shimizu, H. & McLean, W. H. I., Jun 2008, In : Journal of Investigative Dermatology. 128, 6, p. 1436-1441 6 p.

Research output: Contribution to journalArticle

The genetic architecture and population genetics of filaggrin-related atopic dermatitis

O'Regan, G. M., Irvine, A. D., Chen, H., Nomura, T., Campbell, L. E., Zhao, Y., Liao, H., Palmer, C. N., Smith, F. J., McLean, W. & Sandilands, A., Apr 2008, In : Journal of Investigative Dermatology. 128, S1, p. S128-S128 1 p.

Research output: Contribution to journalBook/Film/Article review