Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: X-linked Ichthyosis[original query] |
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Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. Journal of the European Academy of Dermatology and Venereology : JEADV 2010 Oct 24 (10): 1226-9. Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento |
Duplication of the STS region in males is a benign copy-number variant. American journal of medical genetics. Part A 2011 Aug 155A (8): 1972-5. Furrow Aubry, Theisen Aaron, Velsher Lea, Bawle Erawati V, Sastry Sujatha, Mendelsohn Nancy J, Jarvis Kristi, Shaffer Lisa G, Chitayat Dav |
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization. Journal of Korean medical science 2016 Aug 31 (8): 1307-18. Lee Noo Ri, Yoon Na Young, Jung Minyoung, Kim Ji-Yun, Seo Seong Jun, Wang Hye-Young, Lee Hyeyoung, Sohn Young Bae, Choi Eung |
Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination. The Journal of investigative dermatology 2017 Oct . Süßmuth Kira, Gruber Robert, Rodriguez Elke, Traupe Heiko, Amler Susanne, Sánchez-Guijo Alberto, Valentin Frederic, Tarinski Tatjana, Straub Natalia, Metze Dieter, Schneider Stefan W, Hausser Ingrid, Baurecht Hansjörg, Weidinger Stephan, Oji Vinze |
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease 2020 8 43 (6): 1298-1309. Adang Laura A, Schlotawa Lars, Groeschel Samuel, Kehrer Christiane, Harzer Klaus, Staretz-Chacham Orna, Silva Thiago Oliveira, Schwartz Ida Vanessa D, Gärtner Jutta, De Castro Mauricio, Costin Carrie, Montgomery Esperanza Font, Dierks Thomas, Radhakrishnan Karthikeyan, Ahrens-Nicklas Rebecca |
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity. The British journal of dermatology 2022 Jul . Nagtzaam Ivo F, van Leersum Frank S, Kouwenberg Laurie C M, Blok Marinus J, Vreeburg Maaike, Steijlen Peter M, Gosty?ski Antoni, van Geel Mich |
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis. Biomedicines 2024 5 12 (5): . Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposi |
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