Search Results - "Fisher, Allan J."

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound by Shaffer, Lisa G., Rosenfeld, Jill A., Dabell, Mindy P., Coppinger, Justine, Bandholz, Anne M., Ellison, Jay W., Ravnan, J. Britt, Torchia, Beth S., Ballif, Blake C., Fisher, Allan J.

“…ABSTRACT Objective The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)‐based microarrays for pregnancies…”
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A Young Girl With Subacute Vision Loss by Hwang, Nhayoung, Tran, Monica, Fisher, Allan J, Liu, Yin Allison

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Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features by Veazey, Rachel A, Fisher, Allan J, Talati, Asha N, Hardisty, Emily, Gilmore, Kelly L, Vora, Neeta L

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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies by Shaffer, Lisa G., Dabell, Mindy P., Fisher, Allan J., Coppinger, Justine, Bandholz, Anne M., Ellison, Jay W., Ravnan, J. Britt, Torchia, Beth S., Ballif, Blake C., Rosenfeld, Jill A.

“…ABSTRACT Objective To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience. Methods Prenatal samples…”
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Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens by Rosenfeld, Jill A, Morton, S Anne, Hummel, Cathryn, Sulpizio, Scott G, McDaniel, Lisa D, Schultz, Roger A, Torchia, Beth S, Ravnan, J Britt, Ellison, Jay W, Fisher, Allan J

“…While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the…”
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Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies by Shaffer, Lisa G, Dabell, Mindy P, Fisher, Allan J, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Rosenfeld, Jill A

“…Microarray analysis can detect large chromosome imbalances identified by karyotyping as well as smaller alterations less than 10 Mb in size. However, detection…”
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Effects of Establishing Cell Cultures and Cell Culture Conditions on the Proliferative Life Span of Human Fibroblasts Isolated from Different Tissues and Donors of Different Ages by Balin, Arthur K., Fisher, Allan J., Anzelone, Michael, Leong, Ina, Allen, R.G.

“…It is well known that normal human cells placed in a culture environment exhibit a limited proliferative capacity. The extent to which the culture environment…”
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Atrial fibrillation in pregnancy associated with oral terbutaline by Carson, Michael P, Fisher, Allan J, Scorza, William E

“…BACKGROUND: Terbutaline has direct effects on the cardiac conduction system, but when used to treat preterm labor it is rarely associated with clinically…”
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Prenatal diagnosis of 47,XXX by Khoury-Collado, Fady, Wehbeh, Ammar N., Fisher, Allan J., Bombard, Allan T., Weiner, Zeev

“…We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases…”
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Counseling patients with trisomy 17 mosaicism found at genetic amniocentesis by Collado, Fady K., Fisher, Allan J., Bombard, Allan T.

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Trisomy 9 screened positive for trisomy 18 by maternal serum screening by Khoury-Collado, Fady, Anderson, Virginia M., Haas, Bruce R., Fisher, Allan J., Bombard, Allan T., Weiner, Zeev

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A Cost-Effectiveness Analysis of Prenatal Carrier Screening for Cystic Fibrosis by Vintzileos, Anthony M., Ananth, Cande V., Smulian, John C., Fisher, Allan J., Day-Salvatore, Debra, Beazoglou, Tryfon

“…Objective: To examine the cost-effectiveness of prenatal carrier screening for cystic fibrosis. Methods: A cost-benefit equation was developed that was based…”
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Sonographic Identification of Fetuses With Down Syndrome in the Third Trimester: A Matched Control Study by RANZINI, ANGELA C, GUZMAN, EDWIN R, ANANTH, CANDE V, DAY-SALVATORE, DEBRA, FISHER, ALLAN J, VINTZILEOS, ANTHONY M

“…OBJECTIVETo determine sonographic findings in Down syndrome fetuses in the third trimester. METHODSDown syndrome fetuses who had third-trimester ultrasound…”
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An Economic Evaluation of First-Trimester Genetic Sonography for Prenatal Detection of Down Syndrome by Vintzileos, Anthony M, Ananth, Cande V, Fisher, Allan J, Smulian, John C, Day-Salvatore, Debra, Beazoglou, Tryfon

“…Objective: To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic…”
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Prenatal sonographic appearance of hemorrhagic cerebellar infarction by Ranzini, A. C, Shen-Schwarz, S, Guzman, E. R, Fisher, A. J, White, M, Vintzileos, A. M

“…To date, the prenatal diagnosis of cerebellar hemorrhage has been limited to isolated case reports, which have demonstrated either a hyperechoic cerebellar…”
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Genetics Casebook by Day-Salvatore, Debra, Pellegrino, Joan E, White, Mary, Fisher, Allan J, Anwar, Mujahid, Krasna, Irwin H

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Diagnosis and surgical treatment of primary aldosteronism in pregnancy: A case report by Baron, Felice, Sprauve, Margaret E., Huddleston, John F., Fisher, Allan J.

“…Aldosterone-producing adrenal adenomas are rare, especially during pregnancy. We report a patient who presented in the early second trimester, was diagnosed…”
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Atrial Fibrillation in Pregnancy Associated With Oral Terbutaline by Carson, Michael P., Fisher, Allan J., Scorza, William E.

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Economic Evaluation of Prenatal Carrier Screening for Fragile X Syndrome by Vintzileos, Anthony M., Ananth, Cande V., Fisher, Allan J., Smulian, John C., Day-Salvatore, Debra, Beazoglou, Tryfon, Knuppel, Robert A.

“…Objective: The objective of this study was to conduct an economic evaluation of routine prenatal carrier testing for fragile X syndrome. Methods: This economic…”
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Cost-benefit analysis of targeted ultrasonography for prenatal detection of spina bifida in patients with an elevated concentration of second-trimester maternal serum α-fetoprotein by Vintzileos, Anthony M., Ananth, Cande V., Fisher, Allan J., Smulian, John C., Day-Salvatore, Debra, Beazoglou, Tryfon, Knuppel, Robert A.

“…Objective: The objectives of this study were to examine (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of targeted…”
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