ศ.ดร.พญ.กัญญา ศุภปีติพร

Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V. A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I. Mol Vis. 2011 Feb 11;17:456-60. PubMed PMID: 21364962.

Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL. Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families. Horm Res Paediatr. 2010;73(5):349-54. Epub 2010 Apr 14. PubMed PMID: 20389105.

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.

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.

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.

Sahakitrungruang T, Wacharasindhu S, Yeetong P, Snabboon T, Suphapeetiporn K, Shotelersuk V. Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. Fertil Steril. 2008 Nov;90(5):2015.e11-5. Epub 2008 Mar 7. PubMed PMID: 18314109.

Suphapeetiporn K, Mahatumarat C, Rojvachiranonda N, Taecholarn C, Siriwan P, Srivuthana S, Shotelersuk V. Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele. Eur J Paediatr Neurol. 2008 Mar;12(2):102-7. Epub 2007 Sep 14. PubMed PMID: 17869141.

Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. Clin Genet. 2007 Nov;72(5):478-83. Epub 2007 Sep 14. PubMed PMID: 17868388.

Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4. PubMed PMID: 17309652.