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One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Ichthyosis
Concept Ichthyosis, Lamellar
Academic Article Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
Academic Article Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Academic Article Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Academic Article The gene family of ABC transporters--novel mutations, new phenotypes.
Academic Article Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis.
Academic Article Gene Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Academic Article Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Academic Article A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Academic Article Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Academic Article Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Academic Article A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Academic Article Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Academic Article Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
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