Research Topics
Species | VERNON R SUTTONSummaryAffiliation: Baylor College of Medicine Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletionV R Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet 93:381-7. 2000....- Tay-Sachs disease screening and counseling families at risk for metabolic diseaseV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Obstet Gynecol Clin North Am 29:287-96. 2002..Options to modify this risk include prenatal diagnosis by amniocentesis or chorionic villus sampling, egg or sperm donation, preimplantation diagnosis or adoption... - 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyV R Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
J Inherit Metab Dis 26:69-71. 2003..Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency... - Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)V Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Genet 113:447-51. 2003.... - A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosisV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 3498, USA
Am J Med Genet A 133:209-12. 2005.... - Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypesZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 10:267-77. 2008..To date, only a small number of patients with 22q11.2 microduplication have been identified... - Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
Am J Med Genet A 143:1679-86. 2007..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics... - Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short armsV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 112:23-7. 2002.... - Ethical and legal implications of genetic testing in androgen insensitivity syndromeJonathan S Berg
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
J Pediatr 150:434-8. 2007 - Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndromeOleg A Shchelochkov
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 146:1042-8. 2008.... - Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literatureShweta U Dhar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 152:2335-8. 2010..He is the oldest reported patient with this disorder giving some insight into the natural history of this rare skeletal dysplasia... - Low-level mosaicism of trisomy 14: phenotypic and molecular characterizationMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 146:1395-405. 2008.... - 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 82:214-21. 2008..2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes... - Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Prenat Diagn 22:1028-32. 2002..Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth... - Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 143:1358-65. 2007..This case demonstrates the utility of CMA both for detecting a submicroscopic chromosomal deletion and for suggesting further testing that could possibly lead to therapeutic options for patients with developmental delay... - Management of ornithine transcarbamylase deficiency in pregnancyHector Mendez-Figueroa
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Baylor College of Medicine, Houston, TX 77030, USA
Am J Perinatol 27:775-84. 2010..A comprehensive plan for patients who develop hyperammonemia is recommended... - Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapyRuthie E Amir
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
J Child Neurol 20:779-83. 2005..In contrast, prenatal diagnosis should be offered to the parents of an affected child if the responsible mutation has been identified in the index case... - Neuroimaging aspects of Aicardi syndromeBobbi Hopkins
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 146:2871-8. 2008..We further propose that improved characterization of the neurological phenotype will benefit the selection of candidate genes for mutation analysis... - Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patientsV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, 6621 Fannin Street, Houston, TX 77030, USA
Am J Med Genet A 149:1916-21. 2009..In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far... - A genome-wide screen for copy number alterations in Aicardi syndromeXiaoling Wang
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 149:2113-21. 2009..We conclude that, in this study population of 38 subjects, Aicardi syndrome is not caused by CNVs detectable with the high-resolution array platform that was used... - Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 18:278-84. 2010..Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12...
Research Grants
- Clinical Phenotype of Imprinted Genes of Chromosome 14Vernon Sutton; Fiscal Year: 2005..This phenotype delineation will lay the foundation for understanding the effects and pathogenesis of imprinted genes on chromosome 14. ..