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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Frontiers in genetics, 2021-12, Vol.12, p.719624-719624

2021

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Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5

Journal der Deutschen Dermatologischen Gesellschaft, 2023-04, Vol.21 Suppl 2 (S2), p.3-5

2023

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Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Acta dermato-venereologica, 2021-09, Vol.101 (9), p.adv00546-adv00546

2021

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Shared inflammatory glial cell signature after stab wound injury, revealed by spatial, temporal, and cell-type-specific profiling of the murine cerebral cortex

Nature communications, 2024-04, Vol.15 (1), p.2866-2866

2024

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Work, Family, and Well-Being at Midlife: A Person-Centered Approach

Journal of family issues, 2015-01, Vol.36 (1), p.56-86

2015

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Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle

Acta dermato-venereologica, 2020-08, Vol.100 (15), p.adv00241-adv00241

2020

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Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation

BMC medical genomics, 2022-01, Vol.15 (1), p.4-4, Article 4

2022

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Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin

Acta dermato-venereologica, 2021-02, Vol.101 (2), p.adv00397-adv00397

2021

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The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

The Journal of biological chemistry, 2008-06, Vol.283 (25), p.17211-17220

2008

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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Human molecular genetics, 2006-03, Vol.15 (5), p.767-776

2006

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First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

Genes, 2022-03, Vol.13 (3), p.478

2022

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DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project

PLoS biology, 2004-12, Vol.2 (12), p.e405

2004

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Heritability and tissue specificity of expression quantitative trait loci

PLoS genetics, 2006-10, Vol.2 (10), p.e172-e172

2006

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A Family with Palmar and Plantar Hyperkeratosis: A Quiz

Acta dermato-venereologica, 2020-02, Vol.100 (4), p.adv00064-adv00064

2020

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Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

Frontiers in immunology, 2020-12, Vol.11, p.608802-608802

2020

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Persistierende hyperkeratotische Plaques: Persistent hyperkeratotic plaques

Journal der Deutschen Dermatologischen Gesellschaft, 2024-03, Vol.22 (3), p.457-461

2024

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Integrated genomic approaches implicate osteoglycin ( Ogn ) in the regulation of left ventricular mass

Nature genetics, 2008-05, Vol.40 (5), p.546-552

2008

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Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome

Acta dermato-venereologica, 2019-03, Vol.99 (3), p.345-346

2019

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Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

Frontiers in neurology, 2019-01, Vol.9, p.1168

2019

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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Genes, 2021-09, Vol.12 (10), p.1483

2021

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Ichthyosis with Confetti Inherited from a Mosaic Father

Acta dermato-venereologica, 2018-01, Vol.98 (1), p.130-131

2018

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Human molecular genetics, 2004-10, Vol.13 (20), p.2473-2482

2004

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Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

Pediatric dermatology, 2014-07, Vol.31 (4), p.517-518

2014

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome

Molecular genetics & genomic medicine, 2021-03, Vol.9 (3), p.e1611-n/a

2021

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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Shared inflammatory glial cell signature after stab wound injury, revealed by spatial, temporal, and cell-type-specific profiling of the murine cerebral cortex

Work, Family, and Well-Being at Midlife: A Person-Centered Approach

Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin

The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project

Heritability and tissue specificity of expression quantitative trait loci

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Persistierende hyperkeratotische Plaques: Persistent hyperkeratotic plaques

Integrated genomic approaches implicate osteoglycin ( Ogn ) in the regulation of left ventricular mass

Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Ichthyosis with Confetti Inherited from a Mosaic Father

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

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