Pongpanich M - Search Results

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: pongpanich m. Mov Disord. 2024 Jan;39(1):164-172. doi: 10.1002/mds.29654. Epub 2023 Nov 22. Mov Disord. 2024. PMID: 37994247

2

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V. Yeetong P, et al. Among authors: pongpanich m. Brain. 2019 Nov 1;142(11):3360-3366. doi: 10.1093/brain/awz267. Brain. 2019. PMID: 31539032

3

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V. Yeetong P, et al. Among authors: pongpanich m. Eur J Hum Genet. 2021 Feb;29(2):343-348. doi: 10.1038/s41431-020-00729-1. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973343 Free PMC article.

4

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.

Tantirukdham N, Sahakitrungruang T, Chaisiwamongkol R, Pongpanich M, Srichomthong C, Assawapitaksakul A, Buasong A, Tongkobpetch S, Yeetong P, Shotelersuk V. Tantirukdham N, et al. Among authors: pongpanich m. J Clin Endocrinol Metab. 2022 Jun 16;107(7):1939-1947. doi: 10.1210/clinem/dgac187. J Clin Endocrinol Metab. 2022. PMID: 35363313

5

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy.

Yeetong P, Kulsirichawaroj P, Kumutpongpanich T, Srichomthong C, Od-Ek P, Rakwongkhachon S, Thamcharoenvipas T, Sanmaneechai O, Pongpanich M, Shotelersuk V. Yeetong P, et al. Among authors: pongpanich m. Neuromuscul Disord. 2023 Jul;33(7):551-556. doi: 10.1016/j.nmd.2023.05.004. Epub 2023 May 13. Neuromuscul Disord. 2023. PMID: 37320968 Free article.

6

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: pongpanich m. BMC Med Genet. 2016 Dec 12;17(1):96. doi: 10.1186/s12881-016-0357-4. BMC Med Genet. 2016. PMID: 27955642 Free PMC article.

7

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: pongpanich m. Genet Mol Res. 2016 Mar 11;15(1):15017624. doi: 10.4238/gmr.15017624. Genet Mol Res. 2016. PMID: 26985960 Free article.

8

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: pongpanich m. BMC Med Genet. 2017 Mar 4;18(1):25. doi: 10.1186/s12881-017-0384-9. BMC Med Genet. 2017. PMID: 28257626 Free PMC article.

9

Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.

Wankaew N, Chariyavilaskul P, Chamnanphon M, Assawapitaksakul A, Chetruengchai W, Pongpanich M, Shotelersuk V. Wankaew N, et al. Among authors: pongpanich m. PLoS One. 2022 Feb 17;17(2):e0263621. doi: 10.1371/journal.pone.0263621. eCollection 2022. PLoS One. 2022. PMID: 35176049 Free PMC article.

10

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.

Urkasemsin G, Pongpanich M, Sariya L, Kongcharoen A, Buddhirongawatr R, Rungarunlert S, Ferreira JN, Chetruengchai W, Phokaew C, Srichomthong C, Shotelersuk V. Urkasemsin G, et al. Among authors: pongpanich m. Anim Genet. 2021 Oct;52(5):714-719. doi: 10.1111/age.13118. Epub 2021 Jul 6. Anim Genet. 2021. PMID: 34231238

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