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Diagnosis of Ehlers–Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.535-536

Hausser, I.

2020

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Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes

British journal of dermatology (1951), 2017-04, Vol.176 (4), p.863-864

Hausser, I.

2017

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Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2022-04, Vol.36 (4), p.582-591

2022

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Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

British journal of dermatology (1951), 2015-01, Vol.172 (1), p.257-261

2015

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Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome

British journal of dermatology (1951), 2014-04, Vol.170 (4), p.976-978

2014

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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.445-455

2017

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Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

British journal of dermatology (1951), 2011-02, Vol.164 (2), p.442-447

2011

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Acral lamellar Ichthyosis – expanding the phenotype of temperature‐sensitive keratinization disorders

Journal of the European Academy of Dermatology and Venereology, 2018-05, Vol.32 (5), p.e206-e207

2018

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Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2018-03, Vol.178 (3), p.e207-e209

2018

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Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

British journal of dermatology (1951), 2013-07, Vol.169 (1), p.115-124

2013

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Two novel mutations in the LOR gene in three families with loricrin keratoderma

British journal of dermatology (1951), 2015-04, Vol.172 (4), p.1158-1162

2015

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Pathogenesis of cervical artery dissections: association with connective tissue abnormalities

Neurology, 2001-07, Vol.57 (1), p.24

2001

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Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

British journal of dermatology (1951), 2016-05, Vol.174 (5), p.1152-1156

2016

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At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series

Journal of the European Academy of Dermatology and Venereology, 2017-11, Vol.31 (11), p.1912-1915

2017

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Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

Journal of the European Academy of Dermatology and Venereology, 2013-12, Vol.27 (12), p.1552-1558

2013

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A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2014-12, Vol.171 (6), p.1347-1357

2014

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White sponge nevus - a rare autosomal dominant keratinopathy

Klinische Padiatrie, 2014-11, Vol.226 (6-7), p.375

2014

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Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

Journal of medical genetics, 2007-10, Vol.44 (10), p.615-620

2007

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Ehlers-Danlos like syndrome in a cat

Schweizer Archiv für Tierheilkunde, 2014-11, Vol.156 (11), p.543-548

2014

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Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

British journal of dermatology (1951), 2009-04, Vol.160 (4), p.771-781

2009

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Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing

British journal of dermatology (1951), 2002-03, Vol.146 (3), p.495-499

2002

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Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

British journal of dermatology (1951), 2009-02, Vol.160 (2), p.446-449

2009

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Familial cervical artery dissections: Clinical, morphologic and genetic studies

Journal of vascular surgery, 2007, Vol.45 (5), p.1086-1087

2007

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A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

British journal of dermatology (1951), 2006-11, Vol.155 (5), p.1064-1066

2006

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A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

British journal of dermatology (1951), 2008-10, Vol.159 (4), p.961-967

2008

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Diagnosis of Ehlers–Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms

Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

Acral lamellar Ichthyosis – expanding the phenotype of temperature‐sensitive keratinization disorders

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

Two novel mutations in the LOR gene in three families with loricrin keratoderma

Pathogenesis of cervical artery dissections: association with connective tissue abnormalities

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient

At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series

Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis

White sponge nevus - a rare autosomal dominant keratinopathy

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

Ehlers-Danlos like syndrome in a cat

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

Familial cervical artery dissections: Clinical, morphologic and genetic studies

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

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