Associated Papers
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
36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
Esperón-Moldes US et al.
Scientific Reports, 2019
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.
Rasheed M et al.
Pediatrics and Neonatology, 2018
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
Collodion Baby with TGM1 gene mutation.
Sharma D et al.
International Medical Case Reports Journal, 2015
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L et al.
Actas Dermo-sifiliograficas, 2013
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
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
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Rodríguez-Pazos L et al.
The British Journal of Dermatology, 2011
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
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