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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.637-644

2011

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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.614-627

2020

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[18F]Sodium Fluoride PET has the potential to identify active formation of calcinosis cutis in limited cutaneous systemic sclerosis

Seminars in arthritis and rheumatism, 2022-08, Vol.55, p.152027-152027, Article 152027

2022

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Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.574-592

2020

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Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Journal of the European Academy of Dermatology and Venereology, 2021-04, Vol.35 (4), p.995-1006

2021

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Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart

British journal of dermatology (1951), 2010-06, Vol.162 (6), p.1388-1394

2010

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A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

British journal of dermatology (1951), 2010-04, Vol.162 (4), p.875-879

2010

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Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

Journal of the European Academy of Dermatology and Venereology, 2023-12, Vol.37 (12), p.e1405-e1409

2023

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Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Journal of the European Academy of Dermatology and Venereology, 2022-07, Vol.36 (7), p.973-986

2022

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Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis

Journal of dermatology, 2024-07

2024

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1181-1183

2018

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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Journal of the European Academy of Dermatology and Venereology, 2024-03

2024

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Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, 2021-09, Vol.35 (9), p.e597-e600

2021

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Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3

British journal of dermatology (1951), 2007-07, Vol.157 (1), p.168-173

2007

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Obituary: Professor Marcel F. Jonkman: 1957–2019

British journal of dermatology (1951), 2019-09, Vol.181 (3), p.643-644

2019

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Severe early-onset cardiomyopathy and poor prognosis observed in 73 patients with pathogenic KLHL24 variants

European heart journal, 2022-10, Vol.43 (Supplement_2)

2022

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大疱性表皮松解症诊断的新指南

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e111-e111

2020

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New guidelines for the diagnosis of epidermolysis bullosa

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e98-e98

2020

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The positive impact of rituximab on the quality of life and mental health in patients with pemphigus

JAAD international, 2022-06, Vol.7, p.31-33

2022

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Juvenile and adult vulvar pemphigoid, an under recognized entity: Case series of fourteen patients

JAAD Case Reports, 2021-07, Vol.13, p.75-80

2021

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Immunoglobulin M bullous pemphigoid: An enigma

JAAD Case Reports, 2020-06, Vol.6 (6), p.518-520

2020

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Lethal acantholytic epidermolysis bullosa

Dermatologic clinics, 2010-01, Vol.28 (1), p.131

2010

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Medicaments and oral healthcare. Hyperpigmentation of oral soft tissues due to afamelanotide

Nederlands tijdschrift voor tandheelkunde, 2020-04, Vol.127 (4), p.237

2020

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Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology : JEADV, 2021, Vol.35 (9), p.e597-e600

2021

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

The British journal of dermatology, 2018, Vol.179 (5), p.1181-1183

2018

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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

[18F]Sodium Fluoride PET has the potential to identify active formation of calcinosis cutis in limited cutaneous systemic sclerosis

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3

Obituary: Professor Marcel F. Jonkman: 1957–2019

Severe early-onset cardiomyopathy and poor prognosis observed in 73 patients with pathogenic KLHL24 variants

大疱性表皮松解症诊断的新指南

New guidelines for the diagnosis of epidermolysis bullosa

The positive impact of rituximab on the quality of life and mental health in patients with pemphigus

Juvenile and adult vulvar pemphigoid, an under recognized entity: Case series of fourteen patients

Immunoglobulin M bullous pemphigoid: An enigma

Lethal acantholytic epidermolysis bullosa

Medicaments and oral healthcare. Hyperpigmentation of oral soft tissues due to afamelanotide

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

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