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Items: 1 to 20 of 227

1.

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A.

Am J Hum Genet. 1997 Sep;61(3):529-38.

2.

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.

PMID:
9544844
3.

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N.

Eur J Hum Genet. 1998 Nov-Dec;6(6):589-96.

4.
5.

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U.

Eur J Hum Genet. 1999 Sep;7(6):625-32.

6.

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. doi: 10.1111/j.1365-4632.2011.05171.x.

PMID:
22435431
7.

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ.

Nat Genet. 1995 Mar;9(3):279-83.

PMID:
7773290
8.

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

Yang JM, Ahn KS, Cho MO, Yoneda K, Lee CH, Lee JH, Lee ES, Candi E, Melino G, Ahvazi B, Steinert PM.

J Invest Dermatol. 2001 Aug;117(2):214-8.

9.

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.

Pigg M, Gedde-Dahl T Jr, Cox DW, Haugen G, Dahl N.

Prenat Diagn. 2000 Feb;20(2):132-7.

PMID:
10694685
10.

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A.

Am J Hum Genet. 1998 May;62(5):1052-61.

11.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F.

Mol Biol Rep. 2013 Mar;40(3):2527-32. doi: 10.1007/s11033-012-2333-1. Epub 2012 Nov 29.

12.

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.

Sugiura K, Suga Y, Akiyama M.

J Dermatol Sci. 2013 Nov;72(2):197-9. doi: 10.1016/j.jdermsci.2013.06.013. Epub 2013 Jul 10. No abstract available.

PMID:
23895935
13.

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, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX.

Clin Exp Dermatol. 2015 Jan;40(1):56-62. doi: 10.1111/ced.12410. Epub 2014 Aug 22. Review.

PMID:
25154629
14.

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 25;3:e416. doi: 10.1038/cddis.2012.152.

15.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.

Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4.

PMID:
21668430
16.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR.

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

17.

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Shevchenko YO, Compton JG, Toro JR, DiGiovanna JJ, Bale SJ.

Hum Genet. 2000 May;106(5):492-9.

PMID:
10914678
18.

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.

PMID:
11298529
19.

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.

Rodríguez-Pazos L, Ginarte M, Vega-Gliemmo A, Toribio J.

Int J Dermatol. 2009 Nov;48(11):1195-7. doi: 10.1111/j.1365-4632.2009.04223.x.

PMID:
20064174
20.

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. doi: 10.1111/j.1365-2230.2009.03288.x. Epub 2009 May 22.

PMID:
19486042

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