Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: TGM1[original query] |
---|
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. Journal of medical genetics 2009 Feb 46 (2): 103-11. Farasat S, Wei M-H, Herman M, Liewehr D J, Steinberg S M, Bale S J, Fleckman P, Toro J |
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Human mutation 2009 Apr 30 (4): 537-47. Herman Matthew L, Farasat Sharifeh, Steinbach Peter J, Wei Ming-Hui, Toure Ousmane, Fleckman Philip, Blake Patrick, Bale Sherri J, Toro Jorge |
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 |
Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. PloS one 2012 7 (11): e49694. Liedén Agne, Winge Mårten C G, Sääf Annika, Kockum Ingrid, Ekelund Elisabeth, Rodriguez Elke, Fölster-Holst Regina, Franke Andre, Illig Thomas, Tengvall-Linder Maria, Baurecht Hansjörg, Weidinger Stephan, Wahlgren Carl-Fredrik, Nordenskjöld Magnus, Bradley Mar |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. International journal of dermatology 2015 Jul . Zhang San-Quan, Li Chang-Xing, Gao Xin-Qian, Qiu Wen-Yuan, Chen Quan, Li Xue-Mei, Zhou Xin, Tian Xin, Tang Zhi-Ping, Zhao Tian, Zhang Fang, Zhang Xi-B |
Fine mapping of a QTL affecting levels of skatole on pig chromosome 7. BMC genetics 2017 10 18 (1): 85. van Son Maren, Kent Matthew P, Grove Harald, Agarwal Rahul, Hamland Hanne, Lien Sigbjørn, Grindflek E |
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 |
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 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. Pediatric investigation 2020 8 4 (1): 51-54. Yang Zhou, Qi Zhan, Xu Zhe, Li Wei, Ma L |
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. JAMA dermatology 2021 12 158 (1): 16-25. Sun Qisi, Burgren Nareh M, Cheraghlou Shayan, Paller Amy S, Larralde Margarita, Bercovitch Lionel, Levinsohn Jonathan, Ren Ivy, Hu Rong Hua, Zhou Jing, Zaki Theodore, Fan Ryan, Tian Charlie, Saraceni Corey, Nelson-Williams Carol J, Loring Erin, Craiglow Brittany G, Milstone Leonard M, Lifton Richard P, Boyden Lynn M, Choate Keith |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: