Research Topics
Genomes and GenesSpecies | Kit Sing AuSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Detail Information
Publications
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au
Department of Pediatrics, The University of Texas Medical School at Houston, 77030, USA
Genet Med 9:88-100. 2007..Male patients showed more frequent neurologic and eye symptoms, renal cysts, and ungual fibromas. Correlating genotypes with phenotypes should facilitate the disease management of tuberous sclerosis complex...
Association of retinoic acid receptor genes with meningomyelocelePhong X Tran
Department of Pediatrics, University of Texas Medical School at Houston, TX 77030, USA
Birth Defects Res A Clin Mol Teratol 91:39-43. 2011..MM has been induced by retinoic acid teratogenicity in rodent models. We hypothesized that genetic variants influencing retinoic acid (RA) induction via retinoic acid receptors (RARs) may be associated with risk for MM...- Epidemiologic and genetic aspects of spina bifida and other neural tube defectsKit Sing Au
Division of Medical Genetics, Department of Pediatrics, The University of Texas, Medical School at Houston, Houston, Texas 77030, USA
Dev Disabil Res Rev 16:6-15. 2010..Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs... - Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyeloceleMichelle R O'Byrne
Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 88:689-94. 2010..Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential candidates for association to MM... - Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsMary D Ruppe
Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA
Clin Endocrinol (Oxf) 74:312-8. 2011..These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively... - The impact of BRCA1 on spina bifida meningomyelocele lesionsTerri M King
The University of Texas Medical School at Houston, Department of Pediatrics, Division of Medical Genetics and Developmental Pediatrics, Houston, Texas 77030, USA
Ann Hum Genet 71:719-28. 2007..Integrating our data with HapMap findings showed that the polymorphic markers are associated with distinct haplotypes. We conclude that the BRCA1 gene is associated with SBMM and participates in the phenotypic variability seen in SBMM... - Tuberous sclerosis complex: disease modifiers and treatmentsKit Sing Au
Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
Curr Opin Pediatr 20:628-33. 2008..The severity of disease phenotypes of TSC patients is influenced by the activities of genes both up and down-stream in the associated pathways... - Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningoceleChiamaka N Aneji
Neonatal Perinatal Medicine, Department of Pediatrics, University of Texas Houston Health Science Center, Houston, Texas, USA
Birth Defects Res A Clin Mol Teratol 94:84-90. 2012..Maternal preconceptional and periconceptional folate supplementation reduces the risk of NTDs by up to 70%. A key enzyme in folate metabolism is 5, 10-methylene-tetrahydrofolate reductase (MTHFR)... - A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyeloceleClint M Cormier
Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX, USA
Reprod Sci 18:463-8. 2011..02). The physiologic role of the 2 newly identified variants in the GLUT1 gene and the 10 bp deletion associated with risk of MM in Caucasian patients is under investigation... - Characteristics of a spina bifida population including North American Caucasian and Hispanic individualsKit Sing Au
Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 82:692-700. 2008..MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the NTD and lead to a spectrum of physical and neurocognitive phenotypes... - Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlationsPiotr Kozlowski
Genetics Laboratory, Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Genet 121:389-400. 2007..We conclude that large deletions in TSC1 and TSC2 account for about 0.5 and 6% of mutations seen in TSC patients, respectively, and MLPA is a highly sensitive and accurate detection method, including for mosaicism... - Genes in glucose metabolism and association with spina bifidaChristina M Davidson
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, TX 77030, USA
Reprod Sci 15:51-8. 2008..019, .039, and .040, respectively). Three SNPs on 3 genes involved with glucose metabolism and obesity may be associated with increased susceptibility to spina bifida...