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Items: 1 to 20 of 147

1.

Bathing suit ichthyosis.

Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H.

Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3. Review.

PMID:
20522418
2.

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, Seller N, Steijlen PM, Küster W, Hovnanian A, Hennies HC, Traupe H.

Hum Mol Genet. 2006 Nov 1;15(21):3083-97. Epub 2006 Sep 12.

PMID:
16968736
3.

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. doi: 10.1111/ijd.12569. Epub 2014 Sep 10.

PMID:
25209454
4.
5.

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. Epub 2006 Sep 14. No abstract available.

6.

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
7.

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
8.

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA.

JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202.

PMID:
28403434
9.

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
11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.

Gånemo A, Pigg M, Virtanen M, Kukk T, Raudsepp H, Rossman-Ringdahl I, Westermark P, Niemi KM, Dahl N, Vahlquist A.

Acta Derm Venereol. 2003;83(1):24-30.

PMID:
12636018
17.

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
18.

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stöcker W, Traupe H.

J Invest Dermatol. 2009 Aug;129(8):2068-71. doi: 10.1038/jid.2009.18. Epub 2009 Feb 12. No abstract available.

19.

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D.

Science. 1995 Jan 27;267(5197):525-8.

PMID:
7824952
20.

Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case.

Yamamoto M, Sakaguchi Y, Itoh M, Nakagawa N, Fukunaga A, Hitomi K, Yamanishi K.

Br J Dermatol. 2012 Mar;166(3):672-4. doi: 10.1111/j.1365-2133.2011.10594.x. Epub 2011 Dec 6. No abstract available.

PMID:
21895619

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