Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Ichthyosis and ALOX12B[original query] |
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Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. The Journal of investigative dermatology 2009 Jun 129 (6): 1421-8. Eckl Katja-Martina, de Juanes Silvia, Kurtenbach Janine, Nätebus Marc, Lugassy Jenny, Oji Vinzenz, Traupe Heiko, Preil Marie-Luise, Martínez Francisco, Smolle Josef, Harel Avikam, Krieg Peter, Sprecher Eli, Hennies Hans |
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 2018 7 39 (10): 1305-1313. Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Alter Svenja, Hake Lisanne, Korbi Mouna, Ott Hagen, Hausser Ingrid, Zimmer Andreas D, Fischer Judi |
High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 7 35 (11): 2293-2299. Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has |
Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations. Medeniyet medical journal 2022 6 37 (2): 126-130. Saat Hanife, Sahin Ibrahim, Duzkale Neslihan, Gonul Muzeyyen, Bahsi Ta |
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India. Pediatric dermatology 2022 4 39 (3): 420-424. Chiramel Minu Jose, Mathew Lydia, Athirayath Rekha, Chapla Aaron, Sathishkumar Dharshini, Mani Thenmozhi, Danda Sumita, George Re |
A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene. Dermatology online journal 2023 4 29 (1): . Amoedo P, Cerejeira A, Pacheco J, Cruz M J, Mota |
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients. Dermatology (Basel, Switzerland) 2024 4 . Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, May El Hach |
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- Page last updated:Apr 22, 2024
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