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J Britt Ravnan

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Prenatal Diagnosis|November 14, 2006
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversionJennifer McClarren, Alan E Donnenfeld, J Britt Ravnan
American Journal of Medical Genetics. Part A|January 18, 2006
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneityPhilip F Giampietro, Deepti Babu, Carrie A Zabel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disordersJill A Rosenfeld, Blake C Ballif, Beth S Torchia, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysisAllen N Lamb, Jill A Rosenfeld, Justine Coppinger, et al.
Prenatal Diagnosis|August 1, 2012
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundLisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2011
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problemsTrilochan Sahoo, Aaron Theisen, Jill A Rosenfeld, et al.
Prenatal Diagnosis|August 7, 2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesLisa G Shaffer, Mindy P Dabell, Allan J Fisher, et al.
Fetal Diagnosis and Therapy|August 14, 2014
Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimensJill A Rosenfeld, S Anne Morton, Cathryn Hummel, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene clusterJill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Prenatal Diagnosis|November 14, 2006
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversionJennifer McClarren, Alan E Donnenfeld, J Britt Ravnan
American Journal of Medical Genetics. Part A|January 18, 2006
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneityPhilip F Giampietro, Deepti Babu, Carrie A Zabel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disordersJill A Rosenfeld, Blake C Ballif, Beth S Torchia, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysisAllen N Lamb, Jill A Rosenfeld, Justine Coppinger, et al.
Prenatal Diagnosis|August 1, 2012
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundLisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2011
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problemsTrilochan Sahoo, Aaron Theisen, Jill A Rosenfeld, et al.
Prenatal Diagnosis|August 7, 2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesLisa G Shaffer, Mindy P Dabell, Allan J Fisher, et al.
Fetal Diagnosis and Therapy|August 14, 2014
Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimensJill A Rosenfeld, S Anne Morton, Cathryn Hummel, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene clusterJill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Pageof 2