Research Topics
| Brad AngleSummaryAffiliation: Children's Memorial Hospital Country: USA Publications
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Detail Information
Publications
A 4-month-old girl with an enlarged tongue and limb asymmetry. Beckwith-Wiedeman syndromeBrad Angle
Children's Memorial Hospital, Chicago, IL 60614, USA
Pediatr Ann 36:261-2. 2007
A 3-day-old infant with a congenital heart defect and hypocalcemia. 22q11 deletion syndromeBrad Angle
Division of Genetics, Birth Defects and Metabolism, Childrens Memorial Hosiptal, Chicago 60614, USA
Pediatr Ann 36:275-6. 2007
An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndromeBrad Angle
Division of Genetics, Birth Defects, and Metabolism at Children's Memorial Hospital, Chicago, IL 60614, USA
Pediatr Ann 36:282-3. 2007
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type IIBrad Angle
Division of Birth Defects and Metabolism, Department of Pediatrics, Children s Memorial Hospital, Northwestern University, Feinberg School of Medicine, 2300 Children s Plaza, Chicago, IL 60614, USA
Mol Genet Metab 93:36-9. 2008..The possible etiologies of these events and the potential impact of expanded newborn screening on the long-term outcome of GAII are discussed...
Developmental field defects: coming together of associations and sequences during blastogenesisJoseph H Hersh
Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA
Am J Med Genet 110:320-3. 2002....
Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndromeBrad Angle
Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky 40202, USA
Am J Med Genet A 116:376-80. 2003..In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities...
Neuroimaging findings in children with rare or novel de novo chromosomal anomaliesLeon G Epstein
Northwestern University s Feinberg School of Medicine, Department of Pediatrics, Chicago, Illinois 60611, USA
Birth Defects Res A Clin Mol Teratol 82:200-10. 2008..Moreover, many clinical genetic reports do not include neuroimaging...
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Genet Med 9:108-16. 2007..To delineate the correct diagnosis, we have developed a follow-up algorithm for abnormal C4-acylcarnitine newborn screening results based on the comparison of biomarkers for both conditions...
