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Page 1
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, Fischbeck KH, Gahl WA, Guinto CO, Shotelersuk V, Landouré G. Yeetong P, et al. Among authors: tongkobpetch s. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247
Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P, Tongkobpetch S, Kingwatanakul P, Deekajorndech T, Bernardini IM, Suphapeetiporn K, Gahl WA, Shotelersuk V. Yeetong P, et al. Among authors: tongkobpetch s. Gene. 2012 May 15;499(2):323-5. doi: 10.1016/j.gene.2012.03.047. Epub 2012 Mar 16. Gene. 2012. PMID: 22450360 Free PMC article.
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.
Sinthuwiwat T, Buranapraditkun S, Kamolvisit W, Tongkobpetch S, Chetruengchai W, Srichomthong C, Assawapitaksakul A, Phokaew C, Kueanjinda P, Palaga T, Boonpiyathad T, Suphapeetiporn K, Hirankarn N, Shotelersuk V. Sinthuwiwat T, et al. Among authors: tongkobpetch s. Sci Rep. 2022 Sep 14;12(1):15420. doi: 10.1038/s41598-022-19334-x. Sci Rep. 2022. PMID: 36104364 Free PMC article.
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: tongkobpetch s. Am J Med Genet A. 2012 Sep;158A(9):2124-30. doi: 10.1002/ajmg.a.35495. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821680
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: tongkobpetch s. J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719189
42 results