Research Topics
| S B FreemanSummaryAffiliation: Emory University Country: USA Publications
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Detail Information
Publications
Population-based study of congenital heart defects in Down syndromeS B Freeman
Department of Genetics, Emory University, Atlanta, Georgia 30322, USA
Am J Med Genet 80:213-7. 1998..This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate...
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome ProjectSallie B Freeman
Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA
Genet Med 10:173-80. 2008..The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome...
The National Down Syndrome Project: design and implementationSallie B Freeman
Department of Human Genetics, Emory University, Atlanta, GA, USA
Public Health Rep 122:62-72. 2007....
Women with a reduced ovarian complement may have an increased risk for a child with Down syndromeS B Freeman
Department of Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 66:1680-3. 2000..In addition, it suggests that women with a reduced ovarian complement should be offered prenatal diagnosis...
Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control studyQ Yang
Division of Birth Defects and Developmental Disabilities and the Office of Genetics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 1:80-8. 1999..This is the first epidemiological study to categorize cases of trisomy 21 by parent of origin and timing of the meiotic error before assessing possible risk factors...
Epidemiology of Down syndromeStephanie L Sherman
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Ment Retard Dev Disabil Res Rev 13:221-7. 2007..Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances...
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome ProjectsEmily Graves Allen
Department of Human Genetics, Emory University, 2165 North Decatur Rd, Decatur, Atlanta, GA 30030, USA
Hum Genet 125:41-52. 2009..6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis...
Risk factors for nondisjunction of trisomy 21S L Sherman
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Cytogenet Genome Res 111:273-80. 2005....
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome ProjectsS B Freeman
Department of Human Genetics, Emory University, Atlanta, GA 30033, USA
Clin Genet 75:180-4. 2009....
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndromeKimberly F Kerstann
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Epidemiol 27:240-51. 2004..As an example, we have applied these tools to a pilot study of Down syndrome-associated congenital heart defects...
