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A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
Thongnoppakhun A, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C, Yenchitsomanus PT. Thongnoppakhun A, et al. Among authors: rungroj n. Hum Mutat. 2000 Jan;15(1):115. doi: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10612835
Evidence suggesting a genetic contribution to kidney stone in northeastern Thai population.
Sritippayawan S, Borvornpadungkitti S, Paemanee A, Predanon C, Susaengrat W, Chuawattana D, Sawasdee N, Nakjang S, Pongtepaditep S, Nettuwakul C, Rungroj N, Vasuvattakul S, Malasit P, Yenchitsomanus PT. Sritippayawan S, et al. Among authors: rungroj n. Urol Res. 2009 Jun;37(3):141-6. doi: 10.1007/s00240-009-0189-1. Epub 2009 Apr 22. Urol Res. 2009. PMID: 19387627
Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
Thongnoppakhun W, Jiemsup S, Yongkiettrakul S, Kanjanakorn C, Limwongse C, Wilairat P, Vanasant A, Rungroj N, Yenchitsomanus PT. Thongnoppakhun W, et al. Among authors: rungroj n. J Mol Diagn. 2009 Jul;11(4):334-46. doi: 10.2353/jmoldx.2009.080151. Epub 2009 May 21. J Mol Diagn. 2009. PMID: 19460936 Free PMC article.
Prothrombin haplotype associated with kidney stone disease in Northeastern Thai patients.
Rungroj N, Sritippayawan S, Thongnoppakhun W, Paemanee A, Sawasdee N, Nettuwakul C, Sudtachat N, Ungsupravate D, Praihirunkit P, Chuawattana D, Akkarapatumwong V, Borvornpadungkitti S, Susaengrat W, Vasuvattakul S, Malasit P, Yenchitsomanus PT. Rungroj N, et al. Urology. 2011 Jan;77(1):249.e17-23. doi: 10.1016/j.urology.2010.07.494. Epub 2010 Nov 10. Urology. 2011. PMID: 21067798
Association between human prothrombin variant (T165M) and kidney stone disease.
Rungroj N, Sudtachat N, Nettuwakul C, Sawasdee N, Praditsap O, Jungtrakoon P, Sritippayawan S, Chuawattana D, Borvornpadungkitti S, Predanon C, Susaengrat W, Yenchitsomanus PT. Rungroj N, et al. PLoS One. 2012;7(9):e45533. doi: 10.1371/journal.pone.0045533. Epub 2012 Sep 19. PLoS One. 2012. PMID: 23029076 Free PMC article.
23 results