Publications by authors named "Thanakorn Theerapanon"

10Publications

Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.

Eur J Med Genet 2020 Oct 9;63(12):104086. Epub 2020 Oct 9.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1016/j.ejmg.2020.104086DOI Listing
October 2020

Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.

Oral Dis 2020 Sep 29. Epub 2020 Sep 29.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1111/odi.13657DOI Listing
September 2020

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Mol Genet Genomics 2020 Jul 3;295(4):923-931. Epub 2020 Apr 3.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1007/s00438-020-01668-8DOI Listing
July 2020

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and 1261G>T mutation.

Genes Dis 2019 Dec 29;6(4):391-397. Epub 2019 Jul 29.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1016/j.gendis.2019.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6889029PMC
December 2019

A novel mutation in leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Genes Dis 2019 Jun 16;6(2):138-146. Epub 2019 Mar 16.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1016/j.gendis.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545454PMC
June 2019

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.

Mol Genet Genomics 2019 Jun 18;294(3):773-787. Epub 2019 Mar 18.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://dx.doi.org/10.1007/s00438-019-01547-xDOI Listing
June 2019

Cole-Carpenter syndrome in a patient from Thailand.

Am J Med Genet A 2018 08 31;176(8):1706-1710. Epub 2018 Jul 31.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.40358DOI Listing
August 2018

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.

Oral Dis 2018 Nov 18;24(8):1522-1531. Epub 2018 Jul 18.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1111/odi.12926DOI Listing
November 2018

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of and in Human Tooth Germs.

Int J Biol Sci 2018 9;14(4):381-389. Epub 2018 Mar 9.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

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http://www.ijbs.com/v14p0381.htm
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http://dx.doi.org/10.7150/ijbs.23517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930470PMC
May 2019

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

Clin Oral Investig 2019 Jan 20;23(1):303-313. Epub 2018 Apr 20.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

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http://link.springer.com/10.1007/s00784-018-2437-7
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http://dx.doi.org/10.1007/s00784-018-2437-7DOI Listing
January 2019