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Journal Abstract Search


430 related items for PubMed ID: 16403385

  • 1. Lamellar ichthyosis.
    Victor F, Schaffer JV.
    Dermatol Online J; 2005 Dec 30; 11(4):13. PubMed ID: 16403385
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  • 2. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
    Akiyama M, Sawamura D, Shimizu H.
    Clin Exp Dermatol; 2003 May 30; 28(3):235-40. PubMed ID: 12780701
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  • 3. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May 30; 104(4):270-84. PubMed ID: 23562412
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  • 4. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M.
    Hum Mutat; 2010 Oct 30; 31(10):1090-6. PubMed ID: 20672373
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  • 6. Lamellar ichthyosis: a case report.
    Ozyürek H, Kavak A, Alper M.
    Turk J Pediatr; 2002 Oct 30; 44(1):58-60. PubMed ID: 11858382
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  • 10. 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.
    Int J Mol Sci; 2015 Sep 09; 16(9):21791-801. PubMed ID: 26370990
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  • 11. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.
    Credille KM, Minor JS, Barnhart KF, Lee E, Cox ML, Tucker KA, Diegel KL, Venta PJ, Hohl D, Huber M, Dunstan RW.
    Br J Dermatol; 2009 Aug 09; 161(2):265-72. PubMed ID: 19438474
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  • 12. 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 09; 79(1):4-9. PubMed ID: 25982146
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  • 13. 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 09; 26(4):351-61. PubMed ID: 16116617
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  • 14. Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis.
    Williams ML, Elias PM.
    J Clin Invest; 1984 Jul 09; 74(1):296-300. PubMed ID: 6736251
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  • 15. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.
    Pigg M, Gedde-Dahl T, Cox D, Hausser I, Anton-Lamprecht I, Dahl N.
    Eur J Hum Genet; 1998 Jul 09; 6(6):589-96. PubMed ID: 9887377
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  • 16. Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
    Hazell M, Marks R.
    Arch Dermatol; 1985 Apr 09; 121(4):489-93. PubMed ID: 3977372
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  • 17. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
    Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA.
    Br J Dermatol; 2020 Mar 09; 182(3):729-737. PubMed ID: 31168818
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  • 18. 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.
    Genes (Basel); 2021 Jan 09; 12(1):. PubMed ID: 33435499
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  • 20. 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 09; 130(2):438-43. PubMed ID: 19890349
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