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Journal Abstract Search

206 related items for PubMed ID: 26370990

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

  • 2. Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
    Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M.
    Congenit Anom (Kyoto); 2019 May 09; 59(3):93-98. PubMed ID: 29935003
    [Abstract] [Full Text] [Related]

  • 3. 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 09; 55(5):524-30. PubMed ID: 26578203
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
    Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O.
    Exp Dermatol; 2020 Aug 09; 29(8):742-748. PubMed ID: 32618001
    [Abstract] [Full Text] [Related]

  • 5. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
    Akiyama M, Sawamura D, Shimizu H.
    Clin Exp Dermatol; 2003 May 09; 28(3):235-40. PubMed ID: 12780701
    [Abstract] [Full Text] [Related]

  • 6. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma.
    Haftek M, Cambazard F, Dhouailly D, Réano A, Simon M, Lachaux A, Serre G, Claudy A, Schmitt D.
    Br J Dermatol; 1996 Sep 09; 135(3):448-53. PubMed ID: 8949442
    [Abstract] [Full Text] [Related]

  • 7. Lamellar ichthyosis.
    Victor F, Schaffer JV.
    Dermatol Online J; 2005 Dec 30; 11(4):13. PubMed ID: 16403385
    [Abstract] [Full Text] [Related]

  • 8. Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.
    Sugiura K, Akiyama M.
    Acta Derm Venereol; 2015 Sep 30; 95(7):858-9. PubMed ID: 25423909
    [No Abstract] [Full Text] [Related]

  • 9. 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 30; 79(1):4-9. PubMed ID: 25982146
    [Abstract] [Full Text] [Related]

  • 10. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
    Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J.
    Hum Mutat; 2019 Mar 30; 40(3):288-298. PubMed ID: 30578701
    [Abstract] [Full Text] [Related]

  • 11. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
    Akiyama M.
    J Dermatol Sci; 2006 May 30; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 12. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
    Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, University of Washington Center for Mendelian Genomics, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W.
    Int J Dermatol; 2017 Dec 30; 56(12):1406-1413. PubMed ID: 29130490
    [Abstract] [Full Text] [Related]

  • 13. Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
    Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J.
    Eur J Dermatol; 2012 Dec 30; 22(2):178-81. PubMed ID: 22257947
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 26(4):351-61. PubMed ID: 16116617
    [Abstract] [Full Text] [Related]

  • 15. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
    Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J.
    J Invest Dermatol; 2017 Mar 30; 137(3):678-685. PubMed ID: 27884779
    [Abstract] [Full Text] [Related]

  • 16. Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.
    Takeichi T, Okuno Y, Saito C, Kojima D, Kono M, Morita A, Sugiura K, Akiyama M.
    Acta Derm Venereol; 2017 Apr 06; 97(4):532-533. PubMed ID: 27868147
    [No Abstract] [Full Text] [Related]

  • 17. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May 06; 104(4):270-84. PubMed ID: 23562412
    [Abstract] [Full Text] [Related]

  • 18. 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 06; 129(6):1421-8. PubMed ID: 19131948
    [Abstract] [Full Text] [Related]

  • 19. Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
    Akbar A, Bint-E-Farrakh M, Crosby AH, Gul A, Harlalka GV.
    Congenit Anom (Kyoto); 2020 Sep 06; 60(5):149-150. PubMed ID: 31883158
    [No Abstract] [Full Text] [Related]

  • 20. Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
    Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V.
    Pediatr Dermatol; 2023 Jan 06; 40(1):107-112. PubMed ID: 36262015
    [Abstract] [Full Text] [Related]

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