Associated Papers
Lipid nanoparticle-based non-viral in situ gene editing of congenital ichthyosis-causing mutations in human skin models.
Apaydin DC et al.
Cell Stem Cell, 2026
Editing the skin in place: In vivo genome correction of rare skin disease.
Palanki R et al.
Cell Stem Cell, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.
Lixiang W et al.
The Journal of International Medical Research, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.
Gülnerman EK et al.
Annals of Dermatology, 2023
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".
Chacon-Camacho OF et al.
European Journal of Medical Genetics, 2023
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Almazroea A et al.
Medicina (kaunas, Lithuania), 2023
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel MJ et al.
Pediatric Dermatology, 2022
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson JK et al.
The British Journal of Dermatology, 2020
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
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
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
Liu JJ et al.
Clinical and Experimental Dermatology, 2015
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.
Tanahashi K et al.
Acta Dermato-venereologica, 2014
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
Sugiura K et al.
Journal of Dermatological Science, 2013
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Esposito G et al.
The British Journal of Dermatology, 2013
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L et al.
Actas Dermo-sifiliograficas, 2013
Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
Fachal L et al.
International Journal of Dermatology, 2012
Multiple local and recent founder effects of TGM1 in Spanish families.
Fachal L et al.
Plos One, 2012
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML et al.
Human Mutation, 2009
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
Farasat S et al.
Journal of Medical Genetics, 2009
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V et al.
Human Molecular Genetics, 2006
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
Cordisco A et al.
Pediatric Dermatology, 0