Srichomthong C - Search Results

1

The Thai reference exome (T-REx) variant database.

Shotelersuk V, Wichadakul D, Ngamphiw C, Srichomthong C, Phokaew C, Wilantho A, Pakchuen S, Nakhonsri V, Shaw PJ, Wasitthankasem R, Piriyapongsa J, Wangkumhang P, Assawapitaksakul A, Chetruengchai W, Lapphra K, Khuninthong A, Makarawate P, Suphapeetiporn K, Mahasirimongkol S, Satproedprai N, Porntaveetus T, Pisitkun P, Praphanphoj V, Kantaputra P, Tassaneeyakul W, Tongsima S. Shotelersuk V, et al. Among authors: srichomthong c. Clin Genet. 2021 Dec;100(6):703-712. doi: 10.1111/cge.14060. Epub 2021 Sep 22. Clin Genet. 2021. PMID: 34496037

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

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Suphapeetiporn K, Srichomthong C, Shotelersuk V. Suphapeetiporn K, et al. Among authors: srichomthong c. Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. Clin Genet. 2011. PMID: 21371013 No abstract available.

8

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.

9

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: srichomthong c. 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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

55 results

Search Page

Filters