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Journal Abstract Search

143 related items for PubMed ID: 31046801

  • 1. Inherited ichthyoses: molecular causes of the disease in Czech patients.
    Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L.
    Orphanet J Rare Dis; 2019 May 02; 14(1):92. PubMed ID: 31046801
    [Abstract] [Full Text] [Related]

  • 2. 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 02; 7(5):e608. PubMed ID: 30916489
    [Abstract] [Full Text] [Related]

  • 3. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
    Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M.
    Exp Dermatol; 2024 Apr 02; 33(4):e15072. PubMed ID: 38576105
    [Abstract] [Full Text] [Related]

  • 4. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar 02; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 5. Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
    Liu JW, Guo K, Zhang R, Wang R, Ma DL, Zhang X.
    Mol Genet Genomic Med; 2024 May 02; 12(5):e2431. PubMed ID: 38702946
    [Abstract] [Full Text] [Related]

  • 6. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
    Akiyama M.
    J Dermatol Sci; 2006 May 02; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 7. 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 02; 51(1):101-105. PubMed ID: 37752865
    [Abstract] [Full Text] [Related]

  • 8. High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
    Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C.
    J Eur Acad Dermatol Venereol; 2021 Nov 02; 35(11):2293-2299. PubMed ID: 34273205
    [Abstract] [Full Text] [Related]

  • 9. Nonsyndromic types of ichthyoses - an update.
    Traupe H, Fischer J, Oji V.
    J Dtsch Dermatol Ges; 2014 Feb 02; 12(2):109-21. PubMed ID: 24119255
    [Abstract] [Full Text] [Related]

  • 10. [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
    Oji V.
    Hautarzt; 2010 Oct 02; 61(10):891-902; quiz 903-4. PubMed ID: 20827455
    [Abstract] [Full Text] [Related]

  • 11. Ichthyosis: etiology, diagnosis, and management.
    DiGiovanna JJ, Robinson-Bostom L.
    Am J Clin Dermatol; 2003 Oct 02; 4(2):81-95. PubMed ID: 12553849
    [Abstract] [Full Text] [Related]

  • 12. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M.
    Hum Mutat; 2010 Oct 02; 31(10):1090-6. PubMed ID: 20672373
    [Abstract] [Full Text] [Related]

  • 13. Updated molecular genetics and pathogenesis of ichthiyoses.
    Akiyama M.
    Nagoya J Med Sci; 2011 Aug 02; 73(3-4):79-90. PubMed ID: 21928690
    [Abstract] [Full Text] [Related]

  • 14. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
    Cheng R, Liang J, Li Y, Zhang J, Ni C, Yu H, Kong X, Li M, Yao Z.
    Clin Genet; 2020 May 02; 97(5):770-778. PubMed ID: 31953843
    [Abstract] [Full Text] [Related]

  • 15. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
    Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O.
    Gene; 2013 Dec 01; 531(2):510-3. PubMed ID: 24055722
    [Abstract] [Full Text] [Related]

  • 16. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
    Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.
    J Am Acad Dermatol; 2010 Oct 01; 63(4):607-41. PubMed ID: 20643494
    [Abstract] [Full Text] [Related]

  • 17. Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling.
    Vahlquist A.
    Acta Derm Venereol; 2010 Sep 01; 90(5):454-60. PubMed ID: 20814618
    [Abstract] [Full Text] [Related]

  • 18. Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
    Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S.
    Int J Mol Sci; 2023 Sep 11; 24(18):. PubMed ID: 37762265
    [Abstract] [Full Text] [Related]

  • 19. Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
    Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E.
    Am J Med Genet A; 2022 Oct 11; 188(10):2879-2887. PubMed ID: 35920354
    [Abstract] [Full Text] [Related]

  • 20. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
    Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R.
    J Dtsch Dermatol Ges; 2020 Jan 11; 18(1):17-25. PubMed ID: 31642606
    [Abstract] [Full Text] [Related]

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