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The molecular genetic analysis of the expanding pachyonychia congenita case collection

British journal of dermatology (1951), 2014-08, Vol.171 (2), p.343-355

2014

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Gene therapy, 2016-01, Vol.23 (1), p.108-112

2016

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Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age

British journal of dermatology (1951), 2010-12, Vol.163 (6), p.1333-1336

2010

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

British journal of dermatology (1951), 2014-08, Vol.171 (2), p.433-436

2014

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Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

British journal of dermatology (1951), 2013-02, Vol.168 (2), p.326-332

2013

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

British journal of dermatology (1951), 2011-07, Vol.165 (1), p.106-114

2011

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

British journal of dermatology (1951), 2011-11, Vol.165 (5), p.1074-1080

2011

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Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations

Allergy (Copenhagen), 2014-04, Vol.69 (4), p.537-540

2014

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Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure

Allergy (Copenhagen), 2009-12, Vol.64 (12), p.1758-1765

2009

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Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

British journal of dermatology (1951), 2016-10, Vol.175 (S2), p.4-7

McLean, W.H.I.

2016

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Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis

British journal of dermatology (1951), 2012-01, Vol.166 (1), p.200-203

2012

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Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

Journal of the European Academy of Dermatology and Venereology, 2017-01, Vol.31 (1), p.158-162

2017

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Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children

British journal of dermatology (1951), 2009-10, Vol.161 (4), p.884-889

2009

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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

British journal of dermatology (1951), 2015-11, Vol.173 (5), p.1291-1294

2015

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Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease

British journal of dermatology (1951), 2014-06, Vol.170 (6), p.1362-1365

2014

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Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10

British journal of dermatology (1951), 2014-10, Vol.171 (4), p.913-915

2014

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

British journal of dermatology (1951), 2009-08, Vol.161 (2), p.448-451

2009

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Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis

British journal of dermatology (1951), 2021-07, Vol.185 (1), p.153-163

2021

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Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

British journal of dermatology (1951), 2013-12, Vol.169 (6), p.1357-1360

2013

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Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis

British journal of dermatology (1951), 2018-08, Vol.179 (2), p.431-441

2018

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

British journal of dermatology (1951), 2009-04, Vol.160 (4), p.771-781

2009

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Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation

British journal of dermatology (1951), 2012-01, Vol.166 (1), p.124-128

2012

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Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

British journal of dermatology (1951), 2015-01, Vol.172 (1), p.94-100

2015

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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Human molecular genetics, 1998-07, Vol.7 (7), p.1143-1148

1998

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Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

British journal of dermatology (1951), 2009-09, Vol.161 (3), p.692-694

2009

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The molecular genetic analysis of the expanding pachyonychia congenita case collection

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

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

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

Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations

Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10

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

Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis

Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis

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

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

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