Search Results - "South, ST"

Towards an evidence-based process for the clinical interpretation of copy number variation by Riggs, ER, Church, DM, Hanson, K, Horner, VL, Kaminsky, EB, Kuhn, RM, Wain, KE, Williams, ES, Aradhya, S, Kearney, HM, Ledbetter, DH, South, ST, Thorland, EC, Martin, CL

“…Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL…”
Get full text

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants by Kearney, Hutton M., Thorland, Erik C., Brown, Kerry K., Quintero-Rivera, Fabiola, South, Sarah T.

“…Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual…”
Get full text

Advancing the theory and practice of impact assessment: Setting the research agenda by Pope, Jenny, Bond, Alan, Morrison-Saunders, Angus, Retief, Francois

“…Impact assessment has been in place for over 40years and is now practised in some form in all but two of the world's nations. In this paper we reflect on the…”
Get full text

Land take and the effectiveness of project screening in Environmental Impact Assessment: Findings from an empirical study by Geneletti, Davide, Biasiolli, Alessandro, Morrison-Saunders, Angus

“…Land take is emerging as a global environmental concern, and is particularly critical in intensively developed and land-scarce regions. This paper seeks to…”
Get full text

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities by Kearney, Hutton M., South, Sarah T., Wolff, Daynna J., Lamb, Allen, Hamosh, Ada, Rao, Kathleen W.

“…Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with…”
Get full text

Foxp3 Expression Following Bone Marrow Transplantation for IPEX Syndrome After Reduced-Intensity Conditioning by Dorsey, Morna J., Assistant Professor, University of South Florida, St. Petersburg, FL, Petrovic, Aleksandra, Assistant Professor, All Children's Hospital, St. Petersburg, FL, Morrow, Matthew R., Director, Flow Cytometry Core Facility, University of South Florida, Pediatrics, St. Petersburg, FL, Sleasman, John W., Professor, University of South Florida, Pediatrics, St. Petersburg, FL, Dishaw, Larry J., Instructor, All Children's Hospital, St. Petersburg, FL

Get full text

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome by Kahlem, Pascal, Sultan, Marc, Herwig, Ralf, Steinfath, Matthias, Balzereit, Daniela, Eppens, Barbara, Saran, Nidhi G, Pletcher, Mathew T, South, Sarah T, Stetten, Gail, Lehrach, Hans, Reeves, Roger H, Yaspo, Marie-Laure

“…Human trisomy 21, which results in Down syndrome (DS), is one of the most complicated congenital genetic anomalies compatible with life, yet little is known…”
Get full text

Clinical laboratory implementation of cytogenomic microarrays by South, S T, Brothman, A R

“…Examination of the whole genome for copy number alterations by microarray is now routinely done in many laboratories. The field of cytogenetics has evolved to…”
Get more information

PEX19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis by Sacksteder, Katherine A., Jones, Jacob M., South, Sarah T., Li, Xiaoling, Liu, Yifei, Gould, Stephen J.

“…Peroxisomes are components of virtually all eukaryotic cells. While much is known about peroxisomal matrix protein import, our understanding of how peroxisomal…”
Get full text

Peroxisome Synthesis in the Absence of Preexisting Peroxisomes by South, Sarah T., Gould, Stephen J.

“…Zellweger syndrome and related diseases are caused by defective import of peroxisomal matrix proteins. In all previously reported Zellweger syndrome cell lines…”
Get full text

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 by South, Sarah T., Hannes, Femke, Fisch, Gene S., Vermeesch, Joris Robert, Zollino, Marcella

“…Within recent years, numerous individuals have been identified with terminal 4p microdeletions distal to the currently described critical regions for the…”
Get full text

Inhibitors of COPI and COPII Do Not Block PEX3-Mediated Peroxisome Synthesis by South, Sarah T., Sacksteder, Katherine A., Li, Xiaoling, Liu, Yifei, Gould, Stephen J.

“…In humans, defects in peroxisome biogenesis are the cause of lethal diseases typified by Zellweger syndrome. Here, we show that inactivating mutations in human…”
Get full text

Integration of cytogenomic data for furthering the characterization of pediatric B-ALL: a multi-institution, multi-platform microarray study by Baughn, LB, Biegel, JA, South, ST, Smolarek, T, Volkert, S, Carroll, A, Heerema, NA, Rabin, KR, Zweidler-McKay, PA, Loh, M, Hirsch, B

“…It is well documented that among subgroups of B-ALL, the genetic profile of the leukemic blasts has significant impact on prognosis and stratification for…”
Get full text

Reevaluating confined placental mosaicism by Stetten, Gail, Escallon, Cathleen S., South, Sarah T., McMichael, Joseph L., Saul, Daniel O., Blakemore, Karin J.

“…Chromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true…”
Get full text

Inactivation of the Endoplasmic Reticulum Protein Translocation Factor, Sec61p, or Its Homolog, Ssh1p, Does Not Affect Peroxisome Biogenesis by South, Sarah T., Baumgart, Eveline, Gould, Stephen J.

“…Peroxisomes are single membrane-bound organelles present in virtually all eukaryotes. These organelles participate in several important metabolic processes,…”
Get full text

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9 by Boyadjiev, Simeon A., South, Sarah T., Radford, Cristi L., Patel, Ankita, Zhang, George, Hur, David J., Thomas, George H., Gearhart, John P., Stetten, Gail

“…A patient with sporadic bladder exstrophy and de novo apparently balanced chromosomal translocation 46,XY,t(8;9)(p11.2;q13) was analyzed by fluorescence in…”
Get full text

Peroxisomal Membrane Protein Import Does Not Require Pex17p by Harper, Courtney C., South, Sarah T., McCaffery, J. Michael, Gould, Stephen J.

“…Of the ∼20 proteins required for peroxisome biogenesis, only four have been implicated in the process of peroxisomal membrane protein (PMP) import: Pex3p,…”
Get full text

Effects of a co-micronized composite containing palmitoylethanolamide and polydatin in an experimental model of benign prostatic hyperplasia by Cordaro, Marika, Impellizzeri, Daniela, Siracusa, Rosalba, Gugliandolo, Enrico, Fusco, Roberta, Inferrera, Antonino, Esposito, Emanuela, Di Paola, Rosanna, Cuzzocrea, Salvatore

“…Palmitoylethanolamide (PEA), a fatty acid amide-signaling molecule has well-known anti-inflammatory and neuroprotective effects. Nevertheless, PEA does not…”
Get full text

Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurement by South, Sarah T, Corson, Virginia L, McMichael, Joseph L, Blakemore, Karin J, Stetten, Gail

“…The detection of an increased nuchal translucency (NT) or nuchal fold (NF) measurement is associated with an increased risk of common aneuploidies. Only rarely…”
Get more information

Crystallization and X-ray diffraction analysis of a novel immune-type receptor from Ictalurus punctatus and phasing by selenium anomalous dispersion methods by Ostrov, David A., Hernández Prada, José A., Haire, Robert N., Cannon, John P., Magis, Andrew T., Bailey, Kate, Litman, Gary W.

“…X‐ray diffraction data from crystals of a novel immune‐type receptor (NITR10 from the catfish Ictalurus punctatus) were collected to 1.65 Å resolution and…”
Get full text