Shotelersuk V - Search Results

1

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

Sahakitrungruang T, Wacharasindhu S, Yeetong P, Snabboon T, Suphapeetiporn K, Shotelersuk V. Sahakitrungruang T, et al. Among authors: shotelersuk v. Fertil Steril. 2008 Nov;90(5):2015.e11-5. doi: 10.1016/j.fertnstert.2008.01.019. Epub 2008 Mar 7. Fertil Steril. 2008. PMID: 18314109 Free article.

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

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S. Shotelersuk V, et al. J Craniofac Surg. 2003 Jan;14(1):101-4; discussion 105-7. doi: 10.1097/00001665-200301000-00019. J Craniofac Surg. 2003. PMID: 12544231

4

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

5

A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1.

Snabboon T, Plengpanich W, Siriwong S, Wisedopas N, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V. Snabboon T, et al. Among authors: shotelersuk v. Jpn J Clin Oncol. 2005 May;35(5):280-2. doi: 10.1093/jjco/hyi080. Epub 2005 May 13. Jpn J Clin Oncol. 2005. PMID: 15894711

6

A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1.

Snabboon T, Plengpanich W, Shotelersuk V, Sirisalipoch S, Nonthasoot B, Sirichindakul B, Wisedopas N, Suwanwalaikorn S. Snabboon T, et al. Among authors: shotelersuk v. J Med Assoc Thai. 2005 Feb;88(2):191-5. J Med Assoc Thai. 2005. PMID: 15962670

7

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population.

Tongkobpetch S, Siriwan P, Shotelersuk V. Tongkobpetch S, et al. Among authors: shotelersuk v. J Hum Genet. 2006;51(8):671. doi: 10.1007/s10038-006-0006-4. Epub 2006 Jul 26. J Hum Genet. 2006. PMID: 16868654

8

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling.

Katavetin P, Katavetin P, Wacharasindhu S, Shotelersuk V. Katavetin P, et al. Among authors: shotelersuk v. Horm Res. 2006;66(6):273-6. doi: 10.1159/000095546. Epub 2006 Aug 20. Horm Res. 2006. PMID: 16946620

9

PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V. Suphapeetiporn K, et al. Among authors: shotelersuk v. Jpn J Clin Oncol. 2006 Dec;36(12):814-21. doi: 10.1093/jjco/hyl107. Epub 2006 Oct 16. Jpn J Clin Oncol. 2006. PMID: 17043057

10

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Leoyklang P, et al. Among authors: shotelersuk v. Hum Mutat. 2007 Jul;28(7):732-8. doi: 10.1002/humu.20515. Hum Mutat. 2007. PMID: 17377962

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