Associated Papers
A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.
Němejcová K et al.
Virchows Archiv : an International Journal of Pathology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Diociaiuti A et al.
Dermatology (basel, Switzerland), 2024
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae K et al.
The Journal of Dermatology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.
Pietrzak A et al.
Orphanet Journal of Rare Diseases, 2022
High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.
Anker P et al.
Life (basel, Switzerland), 2021
Diagnostic next generation sequencing in neonatal erythroderma.
Cuperus E et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function.
Rorke EA et al.
Cell Death & Disease, 2015
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM et al.
Human Mutation, 2005