Research Topics
| G B SchaeferSummaryAffiliation: University of Nebraska Medical Center Country: USA Publications
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Detail Information
Publications
Diagnostic yield in the clinical genetic evaluation of autism spectrum disordersG Bradley Schaefer
Munroe-Meyer Institute for Genetics and Rehabilitation, 985430 University of Nebraska Medical Center, Omaha, NE 68198, USA
Genet Med 8:549-56. 2006..We discuss the issues in the future implementation of a fourth tier to the evaluation with the potential for an even higher diagnostic yield...
Genetics considerations in cerebral palsyG Bradley Schaefer
University of Nebraska Medical Center, Munroe Meyer Institute for Rehabilitation and Genetics Medicine, Omaha, NE 68198 5430, USA
Semin Pediatr Neurol 15:21-6. 2008..This article reviews known genetic influences on the origin of cerebral palsy. A proposed scheme for the genetic evaluation in identifying the etiology of cerebral palsy is provided...
Clinical variability of tetrasomy 12pG B Schaefer
University of Nebraska Medical Center, Meyer Rehabilitation Institute, Omaha 68198 5430, USA
Clin Genet 51:102-8. 1997..This information is especially important in prenatally ascertained i(12p). The full spectrum of phenotypic possibilities associated with this chromosome aneuploidy should be discussed in prenatal counseling...
Clinical genetics evaluation in identifying the etiology of autism spectrum disordersG Bradley Schaefer
University of Nebraska Medical Center, Munroe Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska, USA
Genet Med 10:301-5. 2008..6) Defining an individualized evaluation scheme based on the unique history and clinical features of a given patient. The guidelines in this article have been developed to assist the clinician in the consideration of these factors...
Genetics evaluation for the etiologic diagnosis of autism spectrum disordersG Bradley Schaefer
University of Nebraska Medical Center, Munroe Meyer Institute for Genetics and Rehabilitation, Omaha, NE, USA
Genet Med 10:4-12. 2008..In this article, we discuss a strategy of a tiered evaluation of the etiology of autism. These recommendations use evidence-based conclusions from the current available literature and cumulative clinical experience...
Postterm closure of the cavum septi pellucidi and developmental outcome in premature infantsHoward Needelman
Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198 5440, USA
J Child Neurol 22:314-6. 2007..The authors conclude that persistence of a cavum septi pellucidi through term is not an independent risk factor for developmental delay...
Regulation of MMP-9 (92 kDa type IV collagenase/gelatinase B) expression in stromal cells of human giant cell tumor of boneV H Rao
Meyer Rehabilitation Institute and Department of Pediatrics, University of Nebraska Medical Center, Omaha 68198, USA
Clin Exp Metastasis 15:400-9. 1997..This suggests that multinucleated giant cells in primary cultures secrete a factor(s) that stimulates stromal cells to produce MMP-9, which, in turn, may contribute to the aggressive behavior of GCT...
Interleukin-1beta upregulates MMP-9 expression in stromal cells of human giant cell tumor of boneV H Rao
Center for Human Molecular Genetics, Munroe Meyer Institute for Genetics and Rehabilitation, and the Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
J Interferon Cytokine Res 19:1207-17. 1999....
Speech-language characteristics of children with Sotos syndromeLaura J Ball
Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska 68198 5450, USA
Am J Med Genet A 136:363-7. 2005....
Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facilityJulia Fisco Houfek
University of Nebraska Medical Center, College of Nursing, Omaha, Nebraska 98198 5330, USA
Public Health Nurs 25:77-87. 2008..Because genetics influences smoking, genetic information will likely be used to individualize future cessation treatment...
Identification of an X-linked deletion syndrome through comparative genomic hybridization microarrayEric T Rush
Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA
Semin Pediatr Neurol 17:51-3. 2010..A review of the genes contained in this region clearly explain his constellation of findings...
Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputationsNathan G Asher
Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA
Semin Pediatr Neurol 15:221-3. 2008..In this article we discuss the clinical features and genetics of this condition. Notably, both of these patients have digital abnormalities which have not been previously described in the literature...
Volumetric neuroimaging in Usher syndrome: evidence of global involvementG B Schaefer
Munroe Meyer Institute, Department of Pediatrics, University of Nebraska Medical Center, Omaha 68198 5430, USA
Am J Med Genet 79:1-4. 1998..These data suggest that the disease process in Usher syndrome involves the entire brain and is not limited to the posterior fossa or auditory and visual systems...
Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescenceM S Cauble
Department of Internal Medicine, University of Nebraska Medical Center, Omaha 68198-3020, USA
J Pediatr Endocrinol Metab 14:1163-7. 2001....
Genetic evaluation of autismNancy J Mendelsohn
Division of Medical Genetics, Children s Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA
Semin Pediatr Neurol 15:27-31. 2008..In this article, we review the most recent advances in genetic testing technology and their potential application to the etiologic evaluation of patients with autism spectrum disorders...
Advances in clinical genetics. Part IV. IntroductionG Bradley Schaefer
Semin Pediatr Neurol 15:109. 2008
Hypotonia, congenital hearing loss, and hypoactive labyrinthsJohn B Bodensteiner
Children s Health Center of St Josephs Hospital, Barrow Neurological Institute, Phoenix, AZ 85013, USA
J Child Neurol 18:171-3. 2003..The patients followed the typical remitting course of "benign congenital hypotonia." The distinguishing clinical feature is the presence of moderate to profound sensorineural hearing loss in all of the patients...
