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Items: 1 to 20 of 134

1.

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.

J Dermatol Sci. 2013 Nov;72(2):193-5. doi: 10.1016/j.jdermsci.2013.06.008. Epub 2013 Jun 28. No abstract available.

PMID:
23871423
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.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Noguera-Morel L, Feito-Rodríguez M, Maldonado-Cid P, García-Miñáur S, Kamsteeg EJ, González-Sarmiento R, De Lucas-Laguna R, Hernández-Martín A, Torrelo A.

Pediatr Dermatol. 2016 Mar-Apr;33(2):e48-51. doi: 10.1111/pde.12740. Epub 2015 Dec 9.

PMID:
26646773
4.

Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.

Tanahashi K, Sugiura K, Asagoe K, Aoyama Y, Iwatsuki K, Akiyama M.

Acta Derm Venereol. 2014 Sep;94(5):589-90. doi: 10.2340/00015555-1765. No abstract available.

5.

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
6.
7.

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2006 Mar 1;15(5):767-76. Epub 2006 Jan 25.

PMID:
16436457
8.

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.

Palamar M, Onay H, Ertam I, Ates EA, Dereli T, Ozkinay F, Yagci A.

Ophthalmic Genet. 2015;36(3):229-33. doi: 10.3109/13816810.2013.870215.

PMID:
24397709
9.

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
10.

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
11.

[Newborn infant with congenital lamellar ichthyosis; 'collodion baby'].

Njoo MD, Traupe H, Raghunath M, Sillevis Smitt JH.

Ned Tijdschr Geneeskd. 2000 Dec 9;144(50):2434-5. Dutch. No abstract available.

PMID:
11232544
12.

Collodion skin in the neonate due to lamellar ichthyosis.

FINLAY HV, BOUND JP.

Arch Dis Child. 1952 Oct;27(135):438-41. No abstract available.

13.

[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
14.

Collodion baby and lamellar ichthyosis.

Sandler B, Hashimoto K.

J Cutan Pathol. 1998 Feb;25(2):116-21.

PMID:
9521501
15.

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

Numata S, Teye K, Krol RP, Karashima T, Fukuda S, Matsuda M, Ishii N, Furumura M, Ohata C, Saminathan SD, Ariffin R, Pramono ZA, Leong KF, Hamada T, Hashimoto T.

J Dermatol Sci. 2015 Apr;78(1):82-5. doi: 10.1016/j.jdermsci.2015.02.006. Epub 2015 Feb 19. No abstract available. Erratum in: J Dermatol Sci. 2015 Aug;79(2):179-80.

PMID:
25766764
16.

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.

Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, Traupe H.

J Invest Dermatol. 2003 Feb;120(2):224-8.

17.
18.

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2003 Sep 15;12(18):2369-78. Epub 2003 Jul 15.

PMID:
12915478
19.

Autosomal recessive congenital ichthyosis.

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

Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Review. English, Spanish.

PMID:
23562412
20.

A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene.

Muramatsu S, Suga Y, Kon J, Matsuba S, Hashimoto Y, Ogawa H.

Br J Dermatol. 2004 Feb;150(2):390-2. No abstract available.

PMID:
14996130

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