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7. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. Takeda M; Nomura T; Sugiyama T; Miyauchi T; Suzuki S; Fujita Y; Shimizu H J Dermatol; 2018 Dec; 45(12):1463-1467. PubMed ID: 30302839 [TBL] [Abstract][Full Text] [Related]
8. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis. Hennies HC; Raghunath M; Wiebe V; Vogel M; Velten F; Traupe H; Reis A Hum Genet; 1998 Mar; 102(3):314-8. PubMed ID: 9544844 [TBL] [Abstract][Full Text] [Related]
9. Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. Terrinoni A; Serra V; Codispoti A; Talamonti E; Bui L; Palombo R; Sette M; Campione E; Didona B; Annicchiarico-Petruzzelli M; Zambruno G; Melino G; Candi E Cell Death Dis; 2012 Oct; 3(10):e416. PubMed ID: 23096117 [TBL] [Abstract][Full Text] [Related]
10. Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis. Fachal L; Rodríguez-Pazos L; Ginarte M; Beiras A; Suárez-Peñaranda JM; Toribio J; Carracedo Á; Vega A Int J Dermatol; 2012 Apr; 51(4):427-30. PubMed ID: 22435431 [TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. Vaigundan D; Kalmankar NV; Krishnappa J; Gowda NY; Kutty AV; Krishnaswamy PR Biomed Res Int; 2014; 2014():706827. PubMed ID: 25180191 [TBL] [Abstract][Full Text] [Related]
12. Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. Akiyama M; Takizawa Y; Suzuki Y; Ishiko A; Matsuo I; Shimizu H J Invest Dermatol; 2001 Jun; 116(6):992-5. PubMed ID: 11407995 [No Abstract] [Full Text] [Related]
13. New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis. Cao X; Lin Z; Yang H; Bu D; Tu P; Chen L; Wu H; Yang Y Clin Exp Dermatol; 2009 Dec; 34(8):904-9. PubMed ID: 19486042 [TBL] [Abstract][Full Text] [Related]
14. Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child. Benmously-Mlika R; Zaouak A; Mrad R; Laaroussi N; Abdelhak S; Hovnanian A; Mokhtar I Int J Dermatol; 2014 Dec; 53(12):1478-80. PubMed ID: 25209454 [TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. Esposito G; De Falco F; Brazzelli V; Montanari L; Larizza D; Salvatore F J Dermatol Sci; 2009 Aug; 55(2):128-30. PubMed ID: 19556108 [No Abstract] [Full Text] [Related]
16. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Cserhalmi-Friedman PB; Milstone LM; Christiano AM Br J Dermatol; 2001 Apr; 144(4):726-30. PubMed ID: 11298529 [TBL] [Abstract][Full Text] [Related]
17. A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. Morita-Adachi R; Takeichi T; Okuno Y; Kataoka S; Hoshino S; Akiyama M Eur J Dermatol; 2017 Aug; 27(4):438-439. PubMed ID: 28747283 [No Abstract] [Full Text] [Related]
18. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Ullah R; Ansar M; Durrani ZU; Lee K; Santos-Cortez RL; Muhammad D; Ali M; Zia M; Ayub M; Khan S; Smith JD; Nickerson DA; Shendure J; Bamshad M; Leal SM; Ahmad W Int J Dermatol; 2016 May; 55(5):524-30. PubMed ID: 26578203 [TBL] [Abstract][Full Text] [Related]
19. Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency. Cordisco A; Lozza V; Di Marco C; Cecconi A; Pisaneschi E; Berti SF; Adamo L; Lori I; Belli G; Gambi B Pediatr Dermatol; 2024; 41(3):512-514. PubMed ID: 38156659 [TBL] [Abstract][Full Text] [Related]
20. The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. Arita K; Jacyk WK; Wessagowit V; van Rensburg EJ; Chaplin T; Mein CA; Akiyama M; Shimizu H; Happle R; McGrath JA J Invest Dermatol; 2007 Feb; 127(2):490-3. PubMed ID: 16977323 [No Abstract] [Full Text] [Related] [Next] [New Search]