Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 9 (of 9 Records) |
Query Trace: Lamellar Ichthyosis[original query] |
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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. Disease markers 2005 1 20 (6): 325-32. Shawky R M, Sayed N S, Elhawary N |
Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene. International journal of dermatology 2010 1 48 (11): 1195-7. Rodríguez-Pazos Laura, Ginarte Manuel, Vega-Gliemmo Ana, Toribio Jai |
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Human mutation 2018 12 40 (3): 288-298. Youssefian Leila, Vahidnezhad Hassan, Saeidian Amir Hossein, Touati Andrew, Sotoudeh Soheila, Mahmoudi Hamidreza, Mansouri Parvin, Daneshpazhooh Maryam, Aghazadeh Nessa, Hesari Kambiz Kamyab, Basiri Mohammadreza, Londin Eric, Kumar Gaurav, Zeinali Sirous, Fortina Paolo, Uitto Jou |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G?>?A mutation in an isolated Ecuadorian population. Scientific reports 2019 5 9 (1): 7175. Esperón-Moldes U S, Pardo-Seco J, Montalván-Suárez M, Fachal L, Ginarte M, Rodríguez-Pazos L, Gómez-Carballa A, Moscoso F, Ugalde-Noritz N, Ordóñez-Ugalde A, Tettamanti-Miranda D, Ruiz J C, Salas A, Vega |
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 |
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand. Pediatric dermatology 2022 Oct . Supsrisunjai Chavalit, Bunnag Thareena, Chaowalit Prapaipit, Boonpuen Niorn, Kootiratrakarn Tanawatt, Wessagowit Vesar |
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox". European journal of medical genetics 2023 9 66 (10): 104842. O F Chacon-Camacho, M C Astiazarán, G Vera-Duarte, H Gutiérrez-Múgica, N Macriz-Romero, E O Graue-Hernandez, J C Zente |
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population. International ophthalmology 2023 8 . Nicole Macriz-Romero, Guillermo Raul Vera-Duarte, Jesus Guerrero-Becerril, Oscar Francisco Chacón-Camacho, Mirena C Astiazarán, Juan Carlos Zenteno, Enrique O Graue-Hernand |
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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