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Items: 1 to 20 of 111

1.

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].

Zhang YL, Yue ZH, Yuan P, Zhou Q, Huang WJ, Hu B, Wang YM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Feb;29(1):1-4. doi: 10.3760/cma.j.issn.1003-9406.2012.01.001. Chinese.

PMID:
22311480
2.

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
3.

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

Mazereeuw-Hautier J, Aufenvenne K, Deraison C, Ahvazi B, Oji V, Traupe H, Hovnanian A.

Br J Dermatol. 2009 Aug;161(2):456-63. doi: 10.1111/j.1365-2133.2009.09277.x. Epub 2009 Jun 4.

PMID:
19500103
4.

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
5.

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
6.

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.

7.

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
8.

Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

Tok J, Garzon MC, Cserhalmi-Friedman P, Lam HM, Spitz JL, Christiano AM.

Exp Dermatol. 1999 Apr;8(2):128-33.

PMID:
10232404
9.

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.

10.

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
11.

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
12.

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.

13.

[Gene mutation analysis of a collodion baby].

Dian Y, Meng Y, Wang Z, Peng YY, Zhou Q, Li XQ, Su L, Huang SZ.

Zhonghua Er Ke Za Zhi. 2009 Sep;47(9):654-7. Chinese.

PMID:
20021785
14.

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA.

Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15.

15.

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
16.

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC, Fitzgerald D, Watson RM, Hol FA, Irvine AD.

Br J Dermatol. 2010 Feb 1;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537.x. Epub 2009 Oct 26. No abstract available.

PMID:
19863506
17.

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
18.

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.

19.

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.

Park SH, Shin JY, Park YM, Youn YA, Kim M.

Can J Ophthalmol. 2013 Dec;48(6):e144-5. doi: 10.1016/j.jcjo.2013.06.004. No abstract available.

PMID:
24314425
20.

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.

Akiyama M, Takizawa Y, Suzuki Y, Shimizu H.

Br J Dermatol. 2003 Jan;148(1):149-53.

PMID:
12534611
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