Shotelersuk V - Search Results

1

Female-restricted syndromic intellectual disability in a patient from Thailand.

Sinthuwiwat T, Ittiwut C, Porntaveetus T, Shotelersuk V. Sinthuwiwat T, et al. Among authors: shotelersuk v. Am J Med Genet A. 2019 May;179(5):758-761. doi: 10.1002/ajmg.a.61106. Epub 2019 Mar 3. Am J Med Genet A. 2019. PMID: 30828969

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

Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy.

Shotelersuk V, Desudchit T, Suwanwela N. Shotelersuk V, et al. Am J Med Genet A. 2003 Jan 15;116A(2):164-9. doi: 10.1002/ajmg.a.10067. Am J Med Genet A. 2003. PMID: 12494436

5

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

6

A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A.

Sunthornyothin S, Sinthuwiwat T, Shotelersuk V. Sunthornyothin S, et al. Among authors: shotelersuk v. J Med Assoc Thai. 2003 Jun;86 Suppl 2:S472-6. J Med Assoc Thai. 2003. PMID: 12930027

7

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: shotelersuk v. Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137. Am J Med Genet A. 2004. PMID: 15214010 No abstract available.

8

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

9

Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus.

Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V. Sahakitrungruang T, et al. Among authors: shotelersuk v. Endocrine. 2008 Apr;33(2):210-4. doi: 10.1007/s12020-008-9074-x. Epub 2008 May 13. Endocrine. 2008. PMID: 18473191

10

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

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