Publications by authors named "Kitiwan Rojnueangnit"

18Publications

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

LACHT syndrome (Mardini-Nyhan association) with tracheal stenosis in a Thai newborn.

Am J Med Genet A 2020 09 9;182(9):2175-2180. Epub 2020 Jul 9.

Program in Translational Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Nakhon Pathom, Bangkok, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.61746DOI Listing
September 2020

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.

Pediatr Cardiol 2020 Jan 11;41(1):165-174. Epub 2019 Nov 11.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

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http://dx.doi.org/10.1007/s00246-019-02240-xDOI Listing
January 2020

Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis.

Am J Med Genet A 2018 09 2;176(9):1935-1940. Epub 2018 Aug 2.

Pediatric Department, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.40483DOI Listing
September 2018

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Clin Case Rep 2018 03 19;6(3):465-468. Epub 2018 Jan 19.

Department of Genetics University of Alabama at Birmingham Birmingham Alabama.

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http://dx.doi.org/10.1002/ccr3.1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838278PMC
March 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Sex-discordant monochorionic twins with blood and tissue chimerism.

Am J Med Genet A 2015 Apr 23;167A(4):872-7. Epub 2015 Feb 23.

Division of Genetics, Department of Pediatrics, School of Medicine University of Texas at Houston, Houston, Texas; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37022DOI Listing
April 2015

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Clin Dysmorphol 2014 Jul;23(3):88-94

Departments of aGenetics bPediatrics cDepartment of Obstetrics and Gynecology, Division of Maternal Fetal Medicine dDepartment of Medicine, and UAB Osteoporosis Prevention and Treatment Clinic, Division of Clinical Immunology and Rheumatology, the University of Alabama at Birmingham, Birmingham, Alabama, USA eResearch Centre of Ste-Justine Hospital, Department of Medicine, University of Montreal fDepartment of Medicine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000034DOI Listing
July 2014

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Am J Med Genet A 2014 Feb 5;164A(2):516-21. Epub 2013 Dec 5.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/ajmg.a.36299
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http://dx.doi.org/10.1002/ajmg.a.36299DOI Listing
February 2014

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.

Am J Med Genet A 2013 Aug 27;161A(8):2024-6. Epub 2013 Jun 27.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1002/ajmg.a.36004DOI Listing
August 2013

Perinatal lethal osteogenesis imperfecta in a Thai newborn: the autopsy and histopathogical findings.

J Med Assoc Thai 2012 Jan;95 Suppl 1:S190-4

Department of Pathology, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.

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January 2012