Shotelersuk V - Search Results

1

Cole-Carpenter syndrome in a patient from Thailand.

Porntaveetus T, Theerapanon T, Srichomthong C, Shotelersuk V. Porntaveetus T, et al. Among authors: shotelersuk v. Am J Med Genet A. 2018 Aug;176(8):1706-1710. doi: 10.1002/ajmg.a.40358. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063094

2

Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. Shotelersuk V, et al. Am J Med Genet. 2002 Jul 15;110(4):384-90. doi: 10.1002/ajmg.10474. Am J Med Genet. 2002. PMID: 12116214

3

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S. Shotelersuk V, et al. Am J Med Genet. 2002 Nov 15;113(1):4-8. doi: 10.1002/ajmg.10449. Am J Med Genet. 2002. PMID: 12400058 Review.

4

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. Int J Mol Med. 2003 Apr;11(4):505-7. Int J Mol Med. 2003. PMID: 12632105

5

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: shotelersuk v. Int J Mol Med. 2003 Dec;12(6):939-41. Int J Mol Med. 2003. PMID: 14612970

6

Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.

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

7

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 --> 9pter and deletion of 9q34.3.

Tansatit M, Kongruttanachok N, Kongnak W, Arunpan S, Maneeshote P, Buasorn V, Praphanphoj V, Shotelersuk V. Tansatit M, et al. Among authors: shotelersuk v. Am J Med Genet A. 2006 Sep 15;140(18):1981-7. doi: 10.1002/ajmg.a.31424. Am J Med Genet A. 2006. PMID: 16906562 No abstract available.

8

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.

Yeetong P, Mahatumarat C, Siriwan P, Rojvachiranonda N, Suphapeetiporn K, Shotelersuk V. Yeetong P, et al. Among authors: shotelersuk v. Am J Med Genet A. 2009 Nov;149A(11):2489-92. doi: 10.1002/ajmg.a.33048. Am J Med Genet A. 2009. PMID: 19842205

9

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: shotelersuk v. Mol Vis. 2011 Feb 11;17:456-60. Mol Vis. 2011. PMID: 21364962 Free PMC article.

10

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: shotelersuk v. 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.

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

278 results

Search Page

Filters