Srichomthong C - Search Results

1

Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.

Buthasane W, Shotelersuk V, Chetruengchai W, Srichomthong C, Assawapitaksakul A, Tangphatsornruang S, Pootakham W, Sonthirod C, Tongsima S, Wangkumhang P, Wilantho A, Thongphakdee A, Sanannu S, Poksawat C, Nipanunt T, Kasorndorkbua C, Koepfli KP, Pukazhenthi BS, Suriyaphol P, Wongsurawat T, Jenjaroenpun P, Suriyaphol G. Buthasane W, et al. Among authors: srichomthong c. Sci Rep. 2024 Apr 24;14(1):9455. doi: 10.1038/s41598-024-59990-9. Sci Rep. 2024. PMID: 38658744 Free PMC article.

2

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.

Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N. Shotelersuk V, et al. Among authors: srichomthong c. Int J Mol Med. 2003 Apr;11(4):505-7. Int J Mol Med. 2003. PMID: 12632105

3

A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.

Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V. Chatchatee P, et al. Among authors: srichomthong c. Int J Mol Med. 2003 Dec;12(6):939-41. Int J Mol Med. 2003. PMID: 14612970

4

Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.

Phupong V, Srichomthong C, Shotelersuk V. Phupong V, et al. Among authors: srichomthong c. Southeast Asian J Trop Med Public Health. 2004 Dec;35(4):977-9. Southeast Asian J Trop Med Public Health. 2004. PMID: 15916101

5

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population.

Srichomthong C, Siriwan P, Shotelersuk V. Srichomthong C, et al. J Med Genet. 2005 Jul;42(7):e46. doi: 10.1136/jmg.2005.032235. J Med Genet. 2005. PMID: 15994871 Free PMC article.

6

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.

Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V. Prommajan K, et al. Among authors: srichomthong c. Mol Vis. 2011 Feb 11;17:456-60. Mol Vis. 2011. PMID: 21364962 Free PMC article.

7

PDGFRa mutations in humans with isolated cleft palate.

Rattanasopha S, Tongkobpetch S, Srichomthong C, Siriwan P, Suphapeetiporn K, Shotelersuk V. Rattanasopha S, et al. Among authors: srichomthong c. Eur J Hum Genet. 2012 Oct;20(10):1058-62. doi: 10.1038/ejhg.2012.55. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473090 Free PMC article.

8

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: srichomthong c. 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

9

FOXE1 mutations in Thai patients with oral clefts.

Srichomthong C, Ittiwut R, Siriwan P, Suphapeetiporn K, Shotelersuk V. Srichomthong C, et al. Genet Res (Camb). 2013 Oct;95(5):133-7. doi: 10.1017/S0016672313000177. Epub 2013 Nov 20. Genet Res (Camb). 2013. PMID: 24252547

10

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

Sahakitrungruang T, Srichomthong C, Pornkunwilai S, Amornfa J, Shuangshoti S, Kulawonganunchai S, Suphapeetiporn K, Shotelersuk V. Sahakitrungruang T, et al. Among authors: srichomthong c. J Clin Endocrinol Metab. 2014 Aug;99(8):E1487-92. doi: 10.1210/jc.2014-1016. Epub 2014 May 13. J Clin Endocrinol Metab. 2014. PMID: 24823459

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