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Journal Abstract Search


194 related items for PubMed ID: 33954798

  • 1. The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
    Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M.
    Acta Derm Venereol; 2021 Jun 22; 101(6):adv00477. PubMed ID: 33954798
    [Abstract] [Full Text] [Related]

  • 2. A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.
    Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Schepis C, Neri I, Castiglia D, Zambruno G, El Hachem M.
    Orphanet J Rare Dis; 2021 Oct 20; 16(1):440. PubMed ID: 34670609
    [Abstract] [Full Text] [Related]

  • 3. 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 Oct 20; 240(3):397-413. PubMed ID: 38588653
    [Abstract] [Full Text] [Related]

  • 4. 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 20; 81(5):1086-1092.e1. PubMed ID: 30268591
    [Abstract] [Full Text] [Related]

  • 5. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May 20; 104(4):270-84. PubMed ID: 23562412
    [Abstract] [Full Text] [Related]

  • 6. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
    Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V.
    J Eur Acad Dermatol Venereol; 2022 Apr 20; 36(4):582-591. PubMed ID: 34908195
    [Abstract] [Full Text] [Related]

  • 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 20; 79(1):4-9. PubMed ID: 25982146
    [Abstract] [Full Text] [Related]

  • 8. Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.
    El Hachem M, Abeni D, Diociaiuti A, Rotunno R, Gesualdo F, Zambruno G, Bodemer C.
    Ital J Pediatr; 2019 Feb 19; 45(1):26. PubMed ID: 30782190
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 40(1):107-112. PubMed ID: 36262015
    [Abstract] [Full Text] [Related]

  • 10. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar 19; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 11. [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
    Oji V.
    Hautarzt; 2010 Oct 19; 61(10):891-902; quiz 903-4. PubMed ID: 20827455
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. 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 15; 35(11):2293-2299. PubMed ID: 34273205
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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]

  • 18. Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
    Li W, Oberlin KE, Wilson TE, Haggstrom AN.
    Pediatr Dermatol; 2020 Jan 15; 37(1):165-170. PubMed ID: 31631373
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.
    Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M, Baselga E, Círia S, de Lucas R, Ginarte M, González-Sarmiento R, Torrelo A.
    J Am Acad Dermatol; 2012 Aug 15; 67(2):240-4. PubMed ID: 22000705
    [Abstract] [Full Text] [Related]

  • 20. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
    Akiyama M, Sawamura D, Shimizu H.
    Clin Exp Dermatol; 2003 May 15; 28(3):235-40. PubMed ID: 12780701
    [Abstract] [Full Text] [Related]


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