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Genetics of Inherited Ichthyoses and Related Diseases

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00096-196

2020

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An Alternative Approach for the Synthesis of Sulfoquinovosyldiacylglycerol

Molecules (Basel, Switzerland), 2021-07, Vol.26 (14), p.4275

2021

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Inflammasome inhibition protects dopaminergic neurons from α-synuclein pathology in a model of progressive Parkinson's disease

Journal of neuroinflammation, 2023-03, Vol.20 (1), p.79-79, Article 79

2023

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MKLN1 splicing defect in dogs with lethal acrodermatitis

PLoS genetics, 2018-03, Vol.14 (3), p.e1007264-e1007264

2018

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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

PLoS genetics, 2013-06, Vol.9 (6), p.e1003536-e1003536

2013

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A de novo variant in the ASPRV1 gene in a dog with ichthyosis

PLoS genetics, 2017-03, Vol.13 (3), p.e1006651-e1006651

2017

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Autosomal Recessive Congenital Ichthyosis

Journal of investigative dermatology, 2009-06, Vol.129 (6), p.1319-1321

Fischer, Judith

2009

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Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz

Acta dermato-venereologica, 2020-07, Vol.100 (14), p.adv00223-adv00223

2020

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Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

Frontiers in immunology, 2022-04, Vol.13, p.883967

2022

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Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Genes, 2021-07, Vol.12 (8), p.1164

2021

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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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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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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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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-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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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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Genetics of Inherited Ichthyoses and Related Diseases

An Alternative Approach for the Synthesis of Sulfoquinovosyldiacylglycerol

Inflammasome inhibition protects dopaminergic neurons from α-synuclein pathology in a model of progressive Parkinson's disease

MKLN1 splicing defect in dogs with lethal acrodermatitis

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

A de novo variant in the ASPRV1 gene in a dog with ichthyosis

Autosomal Recessive Congenital Ichthyosis

Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

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

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

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

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

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

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

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

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