Shotelersuk V - Search Results

1

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Kuptanon C, Srichomthong C, Ittiwut C, Wechapinan T, Sri-Udomkajorn S, Iamopas O, Phokaew C, Suphapeetiporn K, Shotelersuk V. Kuptanon C, et al. Among authors: shotelersuk v. Gene. 2019 May 15;696:21-27. doi: 10.1016/j.gene.2019.01.049. Epub 2019 Feb 14. Gene. 2019. PMID: 30771478

2

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.

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 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

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

8

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

9

An exceptionally low percentage of Thai expectant mothers and medical personnel with folic acid knowledge and peri-conceptional consumption urges an urgent education program and/or food fortification.

Vilaiphan P, Suphapeetiporn K, Phupong V, Shotelersuk V. Vilaiphan P, et al. Among authors: shotelersuk v. Int J Food Sci Nutr. 2007 Jun;58(4):297-303. doi: 10.1080/09637480701217131. Int J Food Sci Nutr. 2007. PMID: 17566891

10

Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele.

Suphapeetiporn K, Mahatumarat C, Rojvachiranonda N, Taecholarn C, Siriwan P, Srivuthana S, Shotelersuk V. Suphapeetiporn K, et al. Among authors: shotelersuk v. Eur J Paediatr Neurol. 2008 Mar;12(2):102-7. doi: 10.1016/j.ejpn.2007.07.005. Epub 2007 Sep 14. Eur J Paediatr Neurol. 2008. PMID: 17869141

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