Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: TTC21B[original query] |
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics 2011 1 43 (3): 189-96. Davis Erica E, Zhang Qi, Liu Qin, Diplas Bill H, Davey Lisa M, Hartley Jane, Stoetzel Corinne, Szymanska Katarzyna, Ramaswami Gokul, Logan Clare V, Muzny Donna M, Young Alice C, Wheeler David A, Cruz Pedro, Morgan Margaret, Lewis Lora R, Cherukuri Praveen, Maskeri Baishali, Hansen Nancy F, Mullikin James C, Blakesley Robert W, Bouffard Gerard G, , Gyapay Gabor, Rieger Susanne, Tönshoff Burkhard, Kern Ilse, Soliman Neveen A, Neuhaus Thomas J, Swoboda Kathryn J, Kayserili Hulya, Gallagher Tomas E, Lewis Richard A, Bergmann Carsten, Otto Edgar A, Saunier Sophie, Scambler Peter J, Beales Philip L, Gleeson Joseph G, Maher Eamonn R, Attié-Bitach Tania, Dollfus Hélène, Johnson Colin A, Green Eric D, Gibbs Richard A, Hildebrandt Friedhelm, Pierce Eric A, Katsanis Nichol |
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical genetics 2014 Dec . McInerney-Leo A M, Harris J E, Leo P J, Marshall M S, Gardiner B, Kinning E, Leong H Y, McKenzie F, Ong W P, Vodopiutz J, Wicking C, Brown M A, Zankl A, Duncan E |
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans. Human genetics 2016 Jul . Guan Meijian, Ma Jun, Keaton Jacob M, Dimitrov Latchezar, Mudgal Poorva, Stromberg Mary, Bonomo Jason A, Hicks Pamela J, Freedman Barry I, Bowden Donald W, Ng Maggie C |
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 Mar . Bullich Gemma, Vargas Iván, Trujillano Daniel, Mendizábal Santiago, Piñero-Fernández Juan Alberto, Fraga Gloria, García-Solano José, Ballarín José, Estivill Xavier, Torra Roser, Ars Elisab |
Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype. Current molecular medicine 2019 2 18 (10): 689-697. Chen L, Wei Y, Chi W, Fang D, Jiang X, Zhang |
Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.
Frontiers in neuroscience 2021 8 15 722592. Song Meng, Liu Jiewei, Yang Yongfeng, Lv Luxian, Li Wenqiang, Luo Xiong-Ji |
Kidney failure in Bardet-Biedl syndrome. Clinical genetics 2022 2 101 (4): 429-441. Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert |
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population. Kidney international 2023 12 . Precil D Neves, Andreia Watanabe, Elieser H Watanabe, Amanda M Narcizo, Kelly Nunes, Antonio M Lerario, Frederico Moraes Ferreira, Lívia B Cavalcante, Janewit Wongboonsin, Denise M Malheiros, Lectícia B Jorge, Matthew G Sampsom, Irene L Noronha, Luiz F Onuch |
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- Page last updated:Apr 22, 2024
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