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Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

British journal of cancer, 2011-12, Vol.105 (12), p.1912-1919

2011

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Neuroendocrinology and neurobiology of sebaceous glands

Biological reviews of the Cambridge Philosophical Society, 2020-06, Vol.95 (3), p.592-624

2020

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

American journal of human genetics, 2003-06, Vol.72 (6), p.1470-1478

2003

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The nuclear envelope, a key structure in cellular integrity and gene expression

Current medicinal chemistry, 2007-05, Vol.14 (11), p.1231-1248

2007

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Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

American journal of human genetics, 2012-07, Vol.91 (1), p.163-170

2012

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Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial

PloS one, 2014-06, Vol.9 (6), p.e99071

2014

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Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

Scientific reports, 2023-03, Vol.13 (1), p.4027-4027, Article 4027

2023

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Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies

Human molecular genetics, 2011-11, Vol.20 (21), p.4175-4186

2011

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Author Correction: Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

Scientific reports, 2023-04, Vol.13 (1), p.5689-5689, Article 5689

2023

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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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Birt-Hogg-Dubé syndrome: diagnosis and management

The lancet oncology, 2009-12, Vol.10 (12), p.1199-1206

2009

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Molecular aetiology and pathogenesis of basal cell carcinoma

British journal of dermatology (1951), 2005-06, Vol.152 (6), p.1108-1124

2005

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Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

BMC medical genomics, 2022-04, Vol.15 (1), p.84-84, Article 84

2022

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Review of familial cerebral cavernous malformations and report of seven additional families

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.338-351

2017

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Genodermatoses caused by genetic mosaicism

European journal of pediatrics, 2012-12, Vol.171 (12), p.1725-1735

2012

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Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components

PloS one, 2012-12, Vol.7 (12), p.e51710-e51710

2012

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Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro

Wound repair and regeneration, 2009-03, Vol.17 (2), p.240-249

2009

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A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

American journal of human genetics, 2005-12, Vol.77 (6), p.909-917

2005

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Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis

British journal of dermatology (1951), 2019-10, Vol.181 (4), p.677-690

2019

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Cutibacterium acnes: Much ado about maybe nothing much

Experimental dermatology, 2021-10, Vol.30 (10), p.1471-1476

2021

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Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

British journal of dermatology (1951), 2022-12, Vol.187 (6), p.948-961

2022

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Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma

PloS one, 2014-09, Vol.9 (9), p.e106427-e106427

2014

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Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature

Experimental dermatology, 2006-09, Vol.15 (9), p.735-741

2006

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A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

American journal of human genetics, 2010-04, Vol.86 (4), p.596-603

2010

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Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Neuroendocrinology and neurobiology of sebaceous glands

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

The nuclear envelope, a key structure in cellular integrity and gene expression

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial

Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies

Author Correction: Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche

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

Birt-Hogg-Dubé syndrome: diagnosis and management

Molecular aetiology and pathogenesis of basal cell carcinoma

Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature

Review of familial cerebral cavernous malformations and report of seven additional families

Genodermatoses caused by genetic mosaicism

Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components

Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro

A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

Homeostasis of the sebaceous gland and mechanisms of acne pathogenesis

Cutibacterium acnes: Much ado about maybe nothing much

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

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