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Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström's disease

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.151-151, Article 151

2019

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Fractionated 5-aminolaevulinic acid-photodynamic therapy vs. surgical excision in the treatment of nodular basal cell carcinoma: results of a randomized controlled trial

British journal of dermatology (1951), 2008-10, Vol.159 (4), p.864-870

2008

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Postzygotic mosaicism in basal cell naevus syndrome

British journal of dermatology (1951), 2017-07, Vol.177 (1), p.249-252

2017

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Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease

British journal of dermatology (1951), 2012-02, Vol.166 (2), p.464-466

2012

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Phenotypic variability associated with WNT10A nonsense mutations

British journal of dermatology (1951), 2010-06, Vol.162 (6), p.1403-1406

2010

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A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

The New England journal of medicine, 2001-10, Vol.345 (16), p.1167-1175

2001

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Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

British journal of dermatology (1951), 2013-06, Vol.168 (6), p.1372-1374

2013

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A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

British journal of dermatology (1951), 2011-01, Vol.164 (1), p.197-199

2011

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Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1

British journal of dermatology (1951), 2011-07, Vol.165 (1), p.201-203

2011

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Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31

British journal of dermatology (1951), 2012-04, Vol.166 (4), p.905-907

2012

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A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

American journal of medical genetics, 2005-01, Vol.132A (2), p.171-174

2005

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HID and KID syndromes are associated with the same connexin 26 mutation

British journal of dermatology (1951), 2002-06, Vol.146 (6), p.938-942

2002

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Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study

British journal of dermatology (1951), 2007-05, Vol.156 (5), p.965-973

2007

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Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma

British journal of dermatology (1951), 2020-01, Vol.182 (1), p.208-211, Article bjd.18216

2020

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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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Photodynamic therapy vs. topical imiquimod for treatment of superficial basal cell carcinoma: a subgroup analysis within a noninferiority randomized controlled trial

British journal of dermatology (1951), 2015-03, Vol.172 (3), p.739-745

2015

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Novel CLDN1 mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease

British journal of dermatology (1951), 2018-03, Vol.178 (3), p.e202-e203

2018

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

Journal of dermatology, 2024-09, Vol.51 (9), p.1180-1186

2024

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A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

Journal of medical genetics, 2005-03, Vol.42 (3), p.e19-e19

2005

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Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

British journal of dermatology (1951), 2019-09, Vol.181 (3), p.587-591

2019

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Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda

British journal of dermatology (1951), 2009-04, Vol.160 (4), p.878-880

2009

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Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

British journal of dermatology (1951), 2009-03, Vol.160 (3), p.707-709

2009

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Melanocortin 1 Receptor Variants in an Irish Population

Journal of investigative dermatology, 1998-07, Vol.111 (1), p.119-122

1998

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Cancer-related secondary lymphoedema due to cutaneous lymphangitis carcinomatosa: clinical presentations and review of literature

European journal of cancer care, 2010-09, Vol.19 (5), p.669-675

2010

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Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

Journal of the European Academy of Dermatology and Venereology, 2011-05, Vol.25 (5), p.592-595

2011

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Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström's disease

Fractionated 5-aminolaevulinic acid-photodynamic therapy vs. surgical excision in the treatment of nodular basal cell carcinoma: results of a randomized controlled trial

Postzygotic mosaicism in basal cell naevus syndrome

Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease

Phenotypic variability associated with WNT10A nonsense mutations

A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1

Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

HID and KID syndromes are associated with the same connexin 26 mutation

Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma

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

Photodynamic therapy vs. topical imiquimod for treatment of superficial basal cell carcinoma: a subgroup analysis within a noninferiority randomized controlled trial

Novel CLDN1 mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease

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

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

Melanocortin 1 Receptor Variants in an Irish Population

Cancer-related secondary lymphoedema due to cutaneous lymphangitis carcinomatosa: clinical presentations and review of literature

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

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