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Journal Abstract Search

481 related items for PubMed ID: 11531841

  • 1. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.
    Virolainen E, Niemi KM, Gånemo A, Kere J, Vahlquist A, Saarialho-Kere U.
    Br J Dermatol; 2001 Sep; 145(3):480-3. PubMed ID: 11531841
    [Abstract] [Full Text] [Related]

  • 2. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
    Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M.
    Dermatology; 2024 Sep; 240(3):397-413. PubMed ID: 38588653
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  • 3. 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.
    Eur J Hum Genet; 1999 Sep; 7(6):625-32. PubMed ID: 10482949
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  • 4. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
    Akiyama M, Sawamura D, Shimizu H.
    Clin Exp Dermatol; 2003 May; 28(3):235-40. PubMed ID: 12780701
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  • 5. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M.
    Hum Mutat; 2010 Oct; 31(10):1090-6. PubMed ID: 20672373
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  • 6. 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
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  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
    Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A.
    Mol Genet Genomic Med; 2019 May 15; 7(5):e608. PubMed ID: 30916489
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  • 10. Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses.
    Ghadially R, Williams ML, Hou SY, Elias PM.
    J Invest Dermatol; 1992 Dec 15; 99(6):755-63. PubMed ID: 1469289
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  • 11. 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 15; 135(3):448-53. PubMed ID: 8949442
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  • 13. Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.
    Kurosawa M, Uehara R, Takagi A, Aoyama Y, Iwatsuki K, Amagai M, Nagai M, Nakamura Y, Inaba Y, Yokoyama K, Ikeda S.
    J Am Acad Dermatol; 2019 Nov 15; 81(5):1086-1092.e1. PubMed ID: 30268591
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  • 16. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
    Takeichi T, Hamada T, Yamamoto M, Ito Y, Kawaguchi A, Kobashi H, Yoshikawa T, Koga H, Ishii N, Nakama T, Muro Y, Ogi T, Akiyama M.
    J Dermatol; 2024 Jan 15; 51(1):101-105. PubMed ID: 37752865
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  • 18. 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]

  • 19. 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
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  • 20. A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
    Ortega-Recalde O, Moreno MB, Vergara JI, Fonseca DJ, Rojas RF, Mosquera H, Medina CL, Restrepo CM, Laissue P.
    Clin Exp Dermatol; 2015 Oct 15; 40(7):757-60. PubMed ID: 25754682
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