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Treatment of epidermolysis bullosa pruriginosa‐associated pruritus with dupilumab

British journal of dermatology (1951), 2020-06, Vol.182 (6), p.1495-1497

2020

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Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin

British journal of dermatology (1951), 2020-07, Vol.183 (1), p.114-120

2020

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ST18 affects cell–cell adhesion in pemphigus vulgaris in a tumour necrosis factor‐α‐dependent fashion

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1153-1160

2021

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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.502-508

2018

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Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey–Hailey disease are allelic disorders

British journal of dermatology (1951), 2018-10, Vol.179 (4), p.1001-1002

2018

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Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A

Clinical and experimental dermatology, 2021-07, Vol.46 (5), p.990-992

2021

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Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14

British journal of dermatology (1951), 2014-08, Vol.171 (2), p.420-422

2014

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Segmental basal cell naevus syndrome caused by an activating mutation in smoothened

British journal of dermatology (1951), 2016-07, Vol.175 (1), p.178-181

2016

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Identification of clinically useful predictive genetic variants in pachyonychia congenita

Clinical and experimental dermatology, 2021-07, Vol.46 (5), p.867-873

2021

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Evidence for cutaneous dysbiosis in dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 2021-10, Vol.46 (7), p.1223-1229

2021

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Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

British journal of dermatology (1951), 2018-04, Vol.178 (4), p.986-986

2018

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Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.756-757

2020

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Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene

Clinical and experimental dermatology, 2015-06, Vol.40 (4), p.367-372

2015

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Molecular epidemiology of pachyonychia congenita in the Israeli population

Clinical and experimental dermatology, 2021-06, Vol.46 (4), p.663-668

2021

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PLACK syndrome shows remarkable phenotypic homogeneity

Clinical and experimental dermatology, 2019-07, Vol.44 (5), p.580-583

2019

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Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

British journal of dermatology (1951), 2018-09, Vol.179 (3), p.755-757

2018

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Immune‐regulatory genes as possible modifiers of familial pityriasis rubra pilaris – lessons from a family with PRP and psoriasis

Journal of the European Academy of Dermatology and Venereology, 2018-10, Vol.32 (10), p.e389-e392

2018

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Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Clinical and experimental dermatology, 2021-01, Vol.46 (1), p.103-108

2021

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Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Clinical and experimental dermatology, 2018-03, Vol.43 (2), p.187-190

2018

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Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10

British journal of dermatology (1951), 2015-07, Vol.173 (1), p.293-296

2015

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Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes

British journal of dermatology (1951), 2014-12, Vol.171 (6), p.1521-1524

2014

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Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

British journal of dermatology (1951), 2018-06, Vol.178 (6), p.1455-1457

2018

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CEDNIK syndrome results from loss-of-function mutations in SNAP29

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.610-616

2011

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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e177-e177

2018

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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e160-e160

2018

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Treatment of epidermolysis bullosa pruriginosa‐associated pruritus with dupilumab

Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin

ST18 affects cell–cell adhesion in pemphigus vulgaris in a tumour necrosis factor‐α‐dependent fashion

A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey–Hailey disease are allelic disorders

Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A

Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened

Identification of clinically useful predictive genetic variants in pachyonychia congenita

Evidence for cutaneous dysbiosis in dystrophic epidermolysis bullosa

Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene

Molecular epidemiology of pachyonychia congenita in the Israeli population

PLACK syndrome shows remarkable phenotypic homogeneity

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

Immune‐regulatory genes as possible modifiers of familial pityriasis rubra pilaris – lessons from a family with PRP and psoriasis

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

CEDNIK syndrome results from loss-of-function mutations in SNAP29

由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型

A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

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