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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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PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

Journal of human genetics, 2018-09, Vol.63 (9), p.965-969

2018

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A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent

Journal of dermatological science, 2015-10, Vol.80 (1), p.76-78

2015

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STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

British journal of dermatology (1951), 2022-11, Vol.187 (5), p.820-822

2022

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Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome

Journal of clinical pathology, 2023-05, Vol.76 (5), p.345

2023

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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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Natural moisturizing factor as a biomarker for filaggrin mutation status in a multi‐ethnic paediatric atopic dermatitis cohort

Clinical and experimental allergy, 2021-11, Vol.51 (11), p.1510-1513

2021

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Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene

Archives of Dermatological Research, 2018-09, Vol.310 (7), p.599-606

2018

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Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma

Journal of the American Academy of Dermatology, 2014-11, Vol.71 (5), p.1005-1008

2014

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Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

Genetics in medicine, 2019-07, Vol.21 (7), p.1559-1567

2019

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Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

Journal of dermatology, 2020-01, Vol.47 (1), p.3-7

2020

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Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

Journal of investigative dermatology, 2012-09, Vol.132 (9), p.2184-2191

2012

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Diagnosing Alport Syndrome: Lessons from the Pediatric Ward

Nephron (2015), 2018-01, Vol.140 (3), p.203-210

2018

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A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

Experimental dermatology, 2019-10, Vol.28 (10), p.1106-1113

2019

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new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Human mutation, 2010, Vol.31 (1), p.E1043-E1051

2010

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New mutations and an updated database for the patched‐1 (PTCH1) gene

Molecular genetics & genomic medicine, 2018-05, Vol.6 (3), p.409-415

2018

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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome

Biomedicines, 2024-01, Vol.12 (2), p.330

2024

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Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene

Journal of dermatological science, 2008-08, Vol.51 (2), p.139-143

2008

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A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome

Journal of investigative dermatology, 2002-04, Vol.118 (4), p.724-727

2002

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Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

Journal of investigative dermatology, 2007-03, Vol.127 (3), p.588-593

2007

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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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Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria

Journal of investigative dermatology, 2011-11, Vol.131 (11), p.2249-2254

2011

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The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

Journal of cellular and molecular medicine, 2009-05, Vol.13 (5), p.959-971

2009

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A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

Journal of investigative dermatology, 2004-08, Vol.123 (2), p.291-293

2004

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

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent

STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome

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

Natural moisturizing factor as a biomarker for filaggrin mutation status in a multi‐ethnic paediatric atopic dermatitis cohort

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

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene

Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

Diagnosing Alport Syndrome: Lessons from the Pediatric Ward

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

New mutations and an updated database for the patched‐1 (PTCH1) gene

Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome

Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

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

Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

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