Publications by authors named "Thantrira Porntaveetus"

32Publications

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

Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.

Eur J Med Genet 2020 Jun 30;63(6):103924. Epub 2020 Mar 30.

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.2020.103924DOI Listing
June 2020

A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.

Eur J Med Genet 2020 Jun 17;63(6):103896. Epub 2020 Feb 17.

Center of Excellence for Medical Genomics, 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.2020.103896DOI Listing
June 2020

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in and .

J Adv Res 2020 Jan 21;21:121-127. Epub 2019 Oct 21.

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.jare.2019.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015471PMC
January 2020

Preparation and characterization of Jagged1-bound fibrinogen-based microspheres and their cytotoxicity against human dental pulp cells.

J Biomater Appl 2020 03 5;34(8):1105-1113. Epub 2020 Jan 5.

Center of Excellence for Regenerative Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1177/0885328219898579DOI Listing
March 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

Bmp signaling in molar cusp formation.

Gene Expr Patterns 2019 06 11;32:67-71. Epub 2019 Apr 11.

Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.gep.2019.04.002DOI Listing
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

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

Am J Med Genet A 2019 05 3;179(5):758-761. Epub 2019 Mar 3.

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.61106DOI Listing
May 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

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.

Genet Mol Biol 2017 Oct-Dec;40(4):763-767. Epub 2017 Sep 21.

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

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1678-4685-GMB-2016-0033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738616PMC
September 2017

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Am J Med Genet A 2017 Oct 1;173(10):2747-2752. Epub 2017 Aug 1.

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

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http://dx.doi.org/10.1002/ajmg.a.38370DOI Listing
October 2017

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.

Hum Genome Var 2015 17;2:15033. Epub 2015 Sep 17.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.

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http://dx.doi.org/10.1038/hgv.2015.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785532PMC
April 2016

R-spondins/Lgrs expression in tooth development.

Dev Dyn 2014 Jun 24;243(6):844-51. Epub 2014 Mar 24.

Department of Craniofacial Development and Stem Cell Biology, Dental Institute, King's College London, Guy's Hospital, London Bridge, London, United Kingdom; Division of Bio-Prosthodontics, Department of Oral Health Science, Course for Oral Life Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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http://dx.doi.org/10.1002/dvdy.24124DOI Listing
June 2014

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).

Hum Mol Genet 2013 May 5;22(9):1873-85. Epub 2013 Feb 5.

Department of Craniofacial Development and Stem Cell Research, and Comprehensive Biomedical Research Centre, Dental Institute, King’s College London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddt041DOI Listing
May 2013

Bmp signalling in filiform tongue papillae development.

Arch Oral Biol 2012 Jun 18;57(6):805-13. Epub 2011 Dec 18.

Department of Craniofacial Development, GKT Dental Institute, King's College, Guy's Hospital, London Bridge, London SE1 9RT, UK.

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http://dx.doi.org/10.1016/j.archoralbio.2011.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773933PMC
June 2012

The smallest teeth in the world are caused by mutations in the PCNT gene.

Am J Med Genet A 2011 Jun 12;155A(6):1398-403. Epub 2011 May 12.

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.33984DOI Listing
June 2011

Wnt signaling in the murine diastema.

Eur J Orthod 2012 Aug 29;34(4):518-24. Epub 2011 Apr 29.

Department of Craniofacial Development, Dental Institute, King's College London, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1093/ejo/cjr049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407839PMC
August 2012

Expression of fibroblast growth factors (Fgfs) in murine tooth development.

J Anat 2011 May 21;218(5):534-43. Epub 2011 Feb 21.

Department of Craniofacial Development, Dental Institute, King's College London, Guy's Hospital, London, UK.

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http://doi.wiley.com/10.1111/j.1469-7580.2011.01352.x
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http://dx.doi.org/10.1111/j.1469-7580.2011.01352.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089749PMC
May 2011

Lrp4: A novel modulator of extracellular signaling in craniofacial organogenesis.

Am J Med Genet A 2010 Dec;152A(12):2974-83

Department of Craniofacial Development, Dental Institute, King's College London, Guy's Hospital, London Bridge, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.33372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537498PMC
December 2010

Expression of Fgf signalling pathway related genes during palatal rugae development in the mouse.

Gene Expr Patterns 2010 Jun 27;10(4-5):193-8. Epub 2010 Mar 27.

Department of Craniofacial Development, Dental Institute, King's College London, Guy's Hospital, London Bridge, London SE1 9RT, UK.

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http://dx.doi.org/10.1016/j.gep.2010.03.004DOI Listing
June 2010