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Journal Abstract Search

240 related items for PubMed ID: 22000705

  • 1. 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; 67(2):240-4. PubMed ID: 22000705
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  • 2. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
    Actas Dermosifiliogr; 2013 May; 104(4):270-84. PubMed ID: 23562412
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  • 6. 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 May; 240(3):397-413. PubMed ID: 38588653
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  • 7. 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; 40(1):107-112. PubMed ID: 36262015
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  • 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; 79(1):4-9. PubMed ID: 25982146
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  • 9. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
    Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A.
    J Dermatol Sci; 2018 Sep; 91(3):328-331. PubMed ID: 29887490
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  • 10. 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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  • 11. Development of a disease severity score for newborns with collodion membrane.
    Rubio-Gomez GA, Weinstein M, Pope E.
    J Am Acad Dermatol; 2014 Mar 02; 70(3):506-11. PubMed ID: 24373778
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  • 14. 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
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  • 15. 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 22; 39(3):420-424. PubMed ID: 35412663
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  • 16. 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 22; 39(4):375-81. PubMed ID: 22098531
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  • 17. 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 22; 36(4):582-591. PubMed ID: 34908195
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  • 18. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
    Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.
    Br J Dermatol; 2011 Oct 22; 165(4):906-11. PubMed ID: 21668430
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  • 19. 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 22; 145(3):480-3. PubMed ID: 11531841
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  • 20. Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
    Shawky RM, Sayed NS, Elhawary NA.
    Dis Markers; 2004 Sep 22; 20(6):325-32. PubMed ID: 15665393
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