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Journal Abstract Search

165 related items for PubMed ID: 31953843

  • 1. 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; 97(5):770-778. PubMed ID: 31953843
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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; 18(1):17-25. PubMed ID: 31642606
    [Abstract] [Full Text] [Related]

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

  • 5.
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  • 6. A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.
    Caglayan AO, Gumus H.
    J Child Neurol; 2010 Aug; 25(8):1003-5. PubMed ID: 20142464
    [Abstract] [Full Text] [Related]

  • 7. Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
    Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S.
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1076. PubMed ID: 31833240
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
    Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J.
    Eur J Hum Genet; 2017 Nov; 25(11):1282-1285. PubMed ID: 28875980
    [Abstract] [Full Text] [Related]

  • 9. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
    Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA.
    Br J Dermatol; 2020 Mar; 182(3):729-737. PubMed ID: 31168818
    [Abstract] [Full Text] [Related]

  • 10. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J.
    Hum Mutat; 2018 Oct; 39(10):1305-1313. PubMed ID: 30011118
    [Abstract] [Full Text] [Related]

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  • 12. Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
    Fioretti T, Auricchio L, Piccirillo A, Vitiello G, Ambrosio A, Cattaneo F, Ammendola R, Esposito G.
    Diagnostics (Basel); 2020 Nov 24; 10(12):. PubMed ID: 33255364
    [Abstract] [Full Text] [Related]

  • 13. Genetic testing and new variants in diagnosis of congenital ichthyoses.
    Salo M, Kimpimäki T, Huhtala H, Saarela T.
    Mol Genet Genomic Med; 2024 Aug 24; 12(8):e70000. PubMed ID: 39189679
    [Abstract] [Full Text] [Related]

  • 14. Nonsyndromic types of ichthyoses - an update.
    Traupe H, Fischer J, Oji V.
    J Dtsch Dermatol Ges; 2014 Feb 24; 12(2):109-21. PubMed ID: 24119255
    [Abstract] [Full Text] [Related]

  • 15. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.
    Elias PM, Williams ML, Feingold KR.
    Clin Dermatol; 2012 Feb 24; 30(3):311-22. PubMed ID: 22507046
    [Abstract] [Full Text] [Related]

  • 16. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
    Diociaiuti A, El Hachem M, Pisaneschi E, Giancristoforo S, Genovese S, Sirleto P, Boldrini R, Angioni A.
    Orphanet J Rare Dis; 2016 Jan 13; 11():4. PubMed ID: 26762237
    [Abstract] [Full Text] [Related]

  • 17. [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
    Oji V.
    Hautarzt; 2010 Oct 13; 61(10):891-902; quiz 903-4. PubMed ID: 20827455
    [Abstract] [Full Text] [Related]

  • 18. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
    Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y.
    Hum Mol Genet; 2016 Oct 15; 25(20):4484-4493. PubMed ID: 28173123
    [Abstract] [Full Text] [Related]

  • 19. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
    Liu Y, Asan, Ma D, Lv F, Xu X, Wang J, Xia W, Jiang Y, Wang O, Xing X, Yu W, Wang J, Sun J, Song L, Zhu Y, Yang H, Wang J, Li M.
    Osteoporos Int; 2017 Oct 15; 28(10):2985-2995. PubMed ID: 28725987
    [Abstract] [Full Text] [Related]

  • 20. 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]

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