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303 related items for PubMed ID: 12780701

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

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

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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 30; 99(6):755-63. PubMed ID: 1469289
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M.
    Hum Mutat; 2010 Oct 15; 31(10):1090-6. PubMed ID: 20672373
    [Abstract] [Full Text] [Related]

  • 7. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
    Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.
    Arch Dermatol; 2008 Mar 15; 144(3):351-6. PubMed ID: 18347291
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 145(3):480-3. PubMed ID: 11531841
    [Abstract] [Full Text] [Related]

  • 10. Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma.
    Brown VL, Farrant PB, Turner RJ, Price ML, Burge SM.
    Br J Dermatol; 2008 May 15; 158(5):1125-8. PubMed ID: 18279460
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
    Williams ML, Elias PM.
    Arch Dermatol; 1985 Apr 09; 121(4):477-88. PubMed ID: 3977371
    [Abstract] [Full Text] [Related]

  • 14. Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients.
    Kawashima J, Akiyama M, Takizawa Y, Takahashi S, Matsuo I, Shimizu H.
    Clin Exp Dermatol; 2005 Jul 09; 30(4):429-31. PubMed ID: 15953088
    [Abstract] [Full Text] [Related]

  • 15. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar 09; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 16. Juvenile Open Angle Glaucoma With Nonbullous Congenital Ichthyosiform Erythroderma.
    Ichhpujani P, Thakur S, Kumar S, Singh RB.
    J Glaucoma; 2018 Nov 09; 27(11):e180-e182. PubMed ID: 29952820
    [Abstract] [Full Text] [Related]

  • 17. Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
    Peterson H, Lofgren S, Bremmer S, Krol A.
    Pediatr Dermatol; 2013 Nov 09; 30(6):e236-7. PubMed ID: 22299640
    [Abstract] [Full Text] [Related]

  • 18. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
    Akiyama M.
    J Dermatol Sci; 2006 May 09; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 19. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
    Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E.
    J Dermatol; 2012 Apr 09; 39(4):375-81. PubMed ID: 22098531
    [Abstract] [Full Text] [Related]

  • 20. 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]

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