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Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Hantaweepant C, Suktitipat B, Pithukpakorn M, Chinthammitr Y, Limwongse C, Tansiri N, Sawatnatee S, Takpradit C, Rotchanapanya W, Pongudom S, Charoenprasert K, Paiboonsukwong K, Thamprasert W, Nolwachai N, Rattanasawat W, Sae-Aeng B, Khorwanichakij N, Saetow P, Saengboon S, Kamjornpreecha K, Pholmoo W, Dujjawan B, Siritanaratkul N. Hantaweepant C, et al. Among authors: pithukpakorn m. Hematology. 2023 Dec;28(1):2187155. doi: 10.1080/16078454.2023.2187155. Hematology. 2023. PMID: 36939018
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T. Panichareon B, et al. Among authors: pithukpakorn m. Eur J Med Genet. 2011 Mar-Apr;54(2):103-7. doi: 10.1016/j.ejmg.2010.10.008. Epub 2010 Oct 27. Eur J Med Genet. 2011. PMID: 21034864
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.
Panichareon B, Seedapan T, Thongnoppakhun W, Limwongse C, Pithukpakorn M, Limjindaporn T. Panichareon B, et al. Among authors: pithukpakorn m. Case Rep Dermatol. 2015 Aug 12;7(2):212-9. doi: 10.1159/000439042. eCollection 2015 May-Aug. Case Rep Dermatol. 2015. PMID: 26351433 Free PMC article.
Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.
Suktitipat B, Sathirareuangchai S, Roothumnong E, Thongnoppakhun W, Wangkiratikant P, Vorasan N, Krittayaphong R, Pithukpakorn M, Boonyapisit W. Suktitipat B, et al. Among authors: pithukpakorn m. PLoS One. 2017 Jul 13;12(7):e0180056. doi: 10.1371/journal.pone.0180056. eCollection 2017. PLoS One. 2017. PMID: 28704380 Free PMC article.
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.
Niyomnaitham S, Parinyanitikul N, Roothumnong E, Jinda W, Samarnthai N, Atikankul T, Suktitipat B, Thongnoppakhun W, Limwongse C, Pithukpakorn M. Niyomnaitham S, et al. Among authors: pithukpakorn m. PeerJ. 2019 Feb 25;7:e6501. doi: 10.7717/peerj.6501. eCollection 2019. PeerJ. 2019. PMID: 30828495 Free PMC article.
Successful treatment of arrhythmia with β-blocker and flecainide combination in pregnant patients with Andersen-Tawil syndrome: A case report and literature review.
Rujirachun P, Junyavoraluk A, Pithukpakorn M, Suktitipat B, Winijkul A. Rujirachun P, et al. Among authors: pithukpakorn m. Ann Noninvasive Electrocardiol. 2021 May;26(3):e12798. doi: 10.1111/anec.12798. Epub 2020 Sep 21. Ann Noninvasive Electrocardiol. 2021. PMID: 32959505 Free PMC article. Review.
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M. Lertwilaiwittaya P, et al. Among authors: pithukpakorn m. Breast Cancer Res Treat. 2021 Jul;188(1):237-248. doi: 10.1007/s10549-021-06152-4. Epub 2021 Mar 1. Breast Cancer Res Treat. 2021. PMID: 33649982 Free PMC article.
38 results