Andreas D. Zimmer

Freiburg, BW, Germany

Last Updated: 09/26/2026

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Found 47 publications

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

Journal: The Journal of investigative dermatology

Published: January 15, 2024

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Journal: European journal of human genetics : EJHG

Published: December 21, 2023

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

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

Journal: Genes

Published: January 18, 2023

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.

Journal: The British journal of dermatology

Published: September 24, 2022

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: July 03, 2022

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Journal: The British journal of dermatology

Published: June 14, 2022

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

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

Journal: BMC medical genomics

Published: September 09, 2021

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.

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.

Journal: Genes

Published: September 03, 2021

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

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

Journal: Frontiers in genetics

Published: June 02, 2021

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

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

Journal: Acta dermato-venereologica

Published: January 25, 2021

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Journal: Genes

Published: December 23, 2020

Molecular characterization and natural history of linear porokeratosis: A case series.

Molecular characterization and natural history of linear porokeratosis: A case series.

Journal: Journal of the American Academy of Dermatology

Published: August 05, 2020

Showing 1-12 of 47

Last Updated: 09/26/2026