Publications by authors named "Catherine W Rehder"

19Publications

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Arch Pathol Lab Med 2020 Jul 24. Epub 2020 Jul 24.

From the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota (Drs Larson, Van Dyke, Kearney, Ketterling, and Peterson, and Mr Yuhas); the Department of Molecular Diagnostics, Legacy Laboratory Services, Legacy Health, Portland, Oregon (Dr Akkari); the Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, California (Dr Raca); the Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington (Dr Gardner); the Department of Pathology, Duke University School of Medicine, Durham, North Carolina (Dr Rehder); the Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill (Dr Kaiser-Rogers); College of American Pathologists, Northfield, Illinois (Ms Eagle); School of Health Professionals (Dr Gu) and the Department of Hematopathology (Dr Tang), The University of Texas MD Anderson Cancer Center, Houston, Texas; the Department of Pathology, University of Utah, Salt Lake City (Dr Toydemir); the Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Dr Conlin); and the Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis (Dr Dolan).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5858/arpa.2020-0089-CPDOI Listing
July 2020

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a001735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593155PMC
September 2017

Identification of mutation: clinical use of microarray.

Clin Case Rep 2017 06 10;5(6):980-985. Epub 2017 May 10.

Division of Medical Genetics Department of Pediatrics Duke University Health System Durham North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457984PMC
June 2017

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

JIMD Rep 2017 4;31:79-83. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388642PMC
May 2016

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

J Neurosci 2015 Jun;35(23):8866-81

Department of Neurobiology, Department of Neurology, Center for Translational Neuroscience, Duke University Medical Center, Durham, North Carolina 27710

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.3470-14.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461691PMC
June 2015

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Clin Lab Med 2011 Dec 20;31(4):543-64, viii. Epub 2011 Oct 20.

Department of Pathology, Duke University, Durham, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cll.2011.08.008DOI Listing
December 2011

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia.

Am J Hematol 2007 Dec;82(12):1063-70

Department of Medicine, Division of Hematology, VA and Duke University Medical Centers, 508 Fulton Street, Durham, North Carolina 27705, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajh.20987DOI Listing
December 2007

Clinical experience with array CGH: case presentations from nine months of practice.

Am J Med Genet A 2006 Oct;140(19):2050-6

Department of Pediatrics, Division of Clinical Genetics, Duke University Medical Center, Durham, North Carolina 27516, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31417
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31417DOI Listing
October 2006

Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunction.

J Biol Chem 2002 Sep 5;277(38):35509-15. Epub 2002 Jul 5.

Department of Pathology, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia 23298-0662, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M205477200DOI Listing
September 2002