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Journal Abstract Search

162 related items for PubMed ID: 34670609

  • 1. 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]

  • 2. 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]

  • 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 Jun 22; 240(3):397-413. PubMed ID: 38588653
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Ichthyosis with confetti: clinics, molecular genetics and management.
    Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G.
    Orphanet J Rare Dis; 2015 Sep 17; 10():115. PubMed ID: 26381864
    [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 17; 36(4):582-591. PubMed ID: 34908195
    [Abstract] [Full Text] [Related]

  • 7. Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis.
    Murrell DF, Teng JMC, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Bunick CG.
    Clin Exp Dermatol; 2023 Jun 05; 48(6):623-630. PubMed ID: 36794376
    [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 05; 35(11):2293-2299. PubMed ID: 34273205
    [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 05; 145(3):480-3. PubMed ID: 11531841
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 39(4):375-81. PubMed ID: 22098531
    [Abstract] [Full Text] [Related]

  • 11. 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 05; 81(5):1086-1092.e1. PubMed ID: 30268591
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 30(9):1290-1297. PubMed ID: 33786896
    [Abstract] [Full Text] [Related]

  • 13. 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 05; 79(1):4-9. PubMed ID: 25982146
    [Abstract] [Full Text] [Related]

  • 14. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.
    Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.
    Int J Womens Dermatol; 2024 Oct 05; 10(3):e175. PubMed ID: 39170880
    [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 05; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 16. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar 05; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 17. 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 05; 67(2):240-4. PubMed ID: 22000705
    [Abstract] [Full Text] [Related]

  • 18. Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
    Mashiah J, Harel A, Bitterman O, Sagi L, Gat A, Fellig Y, Ben-Shachar S, Sprecher E.
    Clin Exp Dermatol; 2016 Jun 05; 41(4):390-3. PubMed ID: 26620441
    [Abstract] [Full Text] [Related]

  • 19. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May 05; 104(4):270-84. PubMed ID: 23562412
    [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 05; 28(3):235-40. PubMed ID: 12780701
    [Abstract] [Full Text] [Related]

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