Wattanasirichaigoon D - Search Results

1

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Thongpradit S, Jinawath N, Javed A, Noojarern S, Khongkraparn A, Tim-Aroon T, Lertsukprasert K, Suktitipat B, Jensen LT, Wattanasirichaigoon D. Thongpradit S, et al. Among authors: wattanasirichaigoon d. Sci Rep. 2020 Jul 29;10(1):12712. doi: 10.1038/s41598-020-69633-4. Sci Rep. 2020. PMID: 32728090 Free PMC article.

2

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus PT, Tocharoenthanaphol C, Thongnoppakhun W, Thawil C, Charoenpipop D, Pho-iam T, Thongpradit S, Duggal P. Wattanasirichaigoon D, et al. Clin Genet. 2004 Nov;66(5):452-60. doi: 10.1111/j.1399-0004.2004.00325.x. Clin Genet. 2004. PMID: 15479191

3

Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).

Wattanasirichaigoon D, Suwannarat P, Thongpradit S. Wattanasirichaigoon D, et al. J Dermatol Sci. 2008 Jan;49(1):98-101. doi: 10.1016/j.jdermsci.2007.10.004. Epub 2007 Nov 26. J Dermatol Sci. 2008. PMID: 18036783 No abstract available.

4

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies.

Tim-aroon T, Jaovisidha S, Wattanasirichaigoon D. Tim-aroon T, et al. Among authors: wattanasirichaigoon d. Am J Med Genet A. 2011 Jun;155A(6):1487-91. doi: 10.1002/ajmg.a.33995. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567922 No abstract available.

5

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.

Wongkittichote P, Tungpradabkul S, Wattanasirichaigoon D, Jensen LT. Wongkittichote P, et al. Among authors: wattanasirichaigoon d. J Inherit Metab Dis. 2013 Sep;36(5):821-30. doi: 10.1007/s10545-012-9543-5. Epub 2012 Oct 3. J Inherit Metab Dis. 2013. PMID: 23053473

6

Screening of SLC25A13 mutation in the Thai population.

Wongkittichote P, Sukasem C, Kikuchi A, Aekplakorn W, Jensen LT, Kure S, Wattanasirichaigoon D. Wongkittichote P, et al. Among authors: wattanasirichaigoon d. World J Gastroenterol. 2013 Nov 21;19(43):7735-42. doi: 10.3748/wjg.v19.i43.7735. World J Gastroenterol. 2013. PMID: 24282362 Free PMC article.

7

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.

Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D. Tim-Aroon T, et al. Among authors: wattanasirichaigoon d. Am J Med Genet A. 2017 Mar;173(3):766-770. doi: 10.1002/ajmg.a.38082. Am J Med Genet A. 2017. PMID: 28211977 Review.

8

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.

Ngiwsara L, Rojnueangnit K, Wattanasirichaigoon D, Tim-Aroon T, Sawangareetrakul P, Champattanachai V, Ketudat-Cairns JR, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Exp Ther Med. 2017 Jun;13(6):2989-2996. doi: 10.3892/etm.2017.4303. Epub 2017 Apr 5. Exp Ther Med. 2017. PMID: 28588666 Free PMC article.

9

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.

Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N. Hnoonual A, et al. Among authors: wattanasirichaigoon d. Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3. Sci Rep. 2017. PMID: 28935972 Free PMC article.

10

p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.

Ngiwsara L, Ketudat-Cairns JR, Sawangareetrakul P, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Tim-Aroon T, Wattanasirichaigoon D, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Ann Hum Genet. 2018 May;82(3):150-157. doi: 10.1111/ahg.12236. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282708

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