Associated Papers
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
41469725 (PubMed )
Supplement: 40246_2025_901_MOESM3_ESM.xlsx › A._Missense
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 2025
39654522 (PubMed )
Supplement: IJC-156-1393-s002.xlsx › 3A._Missense
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W et al.
The British Journal of Dermatology, 2014
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M et al.
The Journal of Investigative Dermatology, 2012
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
van der Velden JJ et al.
Journal of Dermatological Science, 2012
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2010
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