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Items: 1 to 20 of 145

1.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J.

J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346. Epub 2009 Nov 5.

2.

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
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
5.

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. doi: 10.1111/ijd.12950. Epub 2015 Nov 17.

6.

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Sugiura K, Akiyama M.

J Dermatol Sci. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Epub 2015 Apr 30. Review.

PMID:
25982146
7.

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.

Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.

Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.

PMID:
18347291
8.

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC.

J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8.

9.

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J.

Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418.

10.

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J.

J Invest Dermatol. 2007 Apr;127(4):829-34. Epub 2006 Nov 30.

11.

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC.

Hum Mutat. 2005 Oct;26(4):351-61.

PMID:
16116617
12.

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
13.

Autosomal Recessive Congenital Ichthyosis.

Richard G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jan 10 [updated 2017 May 18].

14.

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
15.

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.

16.

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E.

Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148. Epub 2013 Apr 26.

PMID:
23621129
17.
18.

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
19.

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
20.

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

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