Similar articles for PMID: 26578203

Year	Number of Results
1992	1
1993	1
1994	1
1995	3
1996	3
1997	2
1998	5
1999	4
2000	3
2001	10
2002	3
2003	5
2004	3
2005	5
2006	5
2007	7
2008	5
2009	12
2010	7
2011	7
2012	16
2013	14
2014	8
2015	22
2016	20
2017	18
2018	16
2019	30
2020	20
2021	14
2022	15
2023	10
2024	0

1

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. Ullah R, et al. Int J Dermatol. 2016 May;55(5):524-30. doi: 10.1111/ijd.12950. Epub 2015 Nov 17. Int J Dermatol. 2016. PMID: 26578203 Free PMC article.

2

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC. Lima Cunha D, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1. Mol Genet Genomic Med. 2019. PMID: 30600594 Free PMC article.

3

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. Rodríguez-Pazos L, et al. Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4. Br J Dermatol. 2011. PMID: 21668430

4

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

Sugiura K, Akiyama M. Sugiura K, et al. J Dermatol Sci. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Epub 2015 Apr 30. J Dermatol Sci. 2015. PMID: 25982146 Review.

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. Laiho E, et al. Eur J Hum Genet. 1999 Sep;7(6):625-32. doi: 10.1038/sj.ejhg.5200353. Eur J Hum Genet. 1999. PMID: 10482949

6

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.

7

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. Farasat S, et al. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.

8

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.

9

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG. Wang T, et al. Int J Mol Sci. 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. Int J Mol Sci. 2015. PMID: 26370990 Free PMC article.

10

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. Eckl KM, et al. Hum Mutat. 2005 Oct;26(4):351-61. doi: 10.1002/humu.20236. Hum Mutat. 2005. PMID: 16116617

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