Associated Papers
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
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
Takeda M et al.
The Journal of Dermatology, 2018
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.
Sathishkumar D et al.
Case Reports in Dermatological Medicine, 2018
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Marukian NV et al.
Jama Dermatology, 2017
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
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
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
Al-Naamani A et al.
Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2013
[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].
Zhang YL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.
Hackett BC et al.
The British Journal of Dermatology, 2010
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.
Mazereeuw-Hautier J et al.
The British Journal of Dermatology, 2009
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
An update on molecular aspects of the non-syndromic ichthyoses.
Akiyama M et al.
Experimental Dermatology, 2008
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.
Raghunath M et al.
The Journal of Investigative Dermatology, 2003
In this issue: genotype-phenotype correlations: lessons learned from 'milder' genodermatoses.
Paller AS
The Journal of Investigative Dermatology, 2003
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
Cserhalmi-Friedman PB et al.
The British Journal of Dermatology, 2001