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178 related items for PubMed ID: 33435499

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 09; 129(6):1421-8. PubMed ID: 19131948
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Genes (Basel); 2023 Mar 15; 14(3):. PubMed ID: 36980989
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  • 5. 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 15; 165(4):906-11. PubMed ID: 21668430
    [Abstract] [Full Text] [Related]

  • 6. A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.
    Moran JL, Qiu H, Turbe-Doan A, Yun Y, Boeglin WE, Brash AR, Beier DR.
    J Invest Dermatol; 2007 Aug 15; 127(8):1893-7. PubMed ID: 17429434
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  • 7. 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 15; 79(1):4-9. PubMed ID: 25982146
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  • 9. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
    Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O.
    Exp Dermatol; 2021 Sep 15; 30(9):1290-1297. PubMed ID: 33786896
    [Abstract] [Full Text] [Related]

  • 10. Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
    Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R.
    Pediatr Dermatol; 2022 May 15; 39(3):420-424. PubMed ID: 35412663
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 182(3):729-737. PubMed ID: 31168818
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  • 13. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May 15; 104(4):270-84. PubMed ID: 23562412
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  • 14. 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 15; 130(2):438-43. PubMed ID: 19890349
    [Abstract] [Full Text] [Related]

  • 15. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J.
    Hum Mutat; 2018 Oct 15; 39(10):1305-1313. PubMed ID: 30011118
    [Abstract] [Full Text] [Related]

  • 16. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
    Akiyama M.
    J Dermatol Sci; 2006 May 15; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 38(8):911-6. PubMed ID: 23621129
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  • 18. 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.
    Mol Genet Genomic Med; 2019 Mar 15; 7(3):e539. PubMed ID: 30600594
    [Abstract] [Full Text] [Related]

  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Richard G.
    ; 1993 Mar 15. PubMed ID: 20301593
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  • 20. 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 02; 96(7):932-937. PubMed ID: 27025581
    [Abstract] [Full Text] [Related]

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