ศ.นพ.วรศักดิ์ โชติเลอศักดิ์

Amarinthnukrowh P, Tongkobpetch S, Kongpatanayothin A, Suphapeetiporn K, Shotelersuk V. p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. Genet Test Mol Biomarkers. 2010 Dec;14(6):835-7. Epub 2010 Nov 1. PubMed PMID: 21039225.

Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Clin Genet. 2010 Jul;78(1):88-93. Epub 2009 Dec 2. PubMed PMID: 20095979.

Ausavarat S, Leoyklang P, Vejchapipat P, Chongsrisawat V, Suphapeetiporn K, Shotelersuk V. Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. World J Gastroenterol. 2009 Nov 14;15(42):5364-7. PubMed PMID: 19908348; PubMed Central PMCID: PMC2776867.

Yeetong P, Mahatumarat C, Siriwan P, Rojvachiranonda N, Suphapeetiporn K, Shotelersuk V. Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. Am J Med Genet A. 2009 Nov;149A(11):2489-92. PubMed PMID: 19842205.

Tammachote R, Tongkobpetch S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease. J Inherit Metab Dis. 2009 Feb 24. [Epub ahead of print] PubMed PMID: 19240989.

Supornsilchai V, Sahakitrungruang T, Wongjitrat N, Wacharasindhu S, Suphapeetiporn K, Shotelersuk V. Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. Clin Endocrinol (Oxf). 2009 Apr;70(4):623-8. Epub 2008 Aug 4. PubMed PMID: 18681856.

Locharernkul C, Loplumlert J, Limotai C, Korkij W, Desudchit T, Tongkobpetch S, Kangwanshiratada O, Hirankarn N, Suphapeetiporn K, Shotelersuk V. Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia. 2008 Dec;49(12):2087-91. Epub 2008 Jul 14. Erratum in: Epilepsia. 2009 Apr;50(4):971. PubMed PMID: 18637831.

Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. Epub 2008 Jun 23. PubMed PMID: 18573709.

Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V. Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus. Endocrine. 2008 Apr;33(2):210-4. Epub 2008 May 13. PubMed PMID: 18473191