Výsledky vyhledávání - "Roger A. Schultz"

MP02-10 MENHEALTH UROFLOWMETRY APP IS EQUIVALENT TO STANDARD OFFICE UROFLOWMETRY

Autor: Roger E. Schultz, Michal Tavrovsky

Publikováno v: Journal of Urology. 206

INTRODUCTION AND OBJECTIVE:We compared standard Prometheus Office Uroflowmetry (POU) against the results obtained by a new MenHealth Uroflowmetry App (MUA). The MenHealth Uroflowmetry App (MUA) is ...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6dd38fab16027a1d3f3a68536f61040a
https://doi.org/10.1097/ju.0000000000001963.10

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Diagnostic utility of microarray testing in pregnancy loss

Autor: Megan E. Tucker, Luis F. Escobar, David Chitayat, Nicholas J. Neill, Beth S. Torchia, Roger A. Schultz, Karen Chong, Jill A. Rosenfeld, Lisa D McDaniel

Publikováno v: Ultrasound in Obstetrics & Gynecology. 46:478-486

Objectives To determine the frequency of clinically significant chromosomal abnormalities identified by chromosomal microarray in pregnancy losses at any gestational age and to compare microarray performance with that of traditional cytogenetic analy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c022642517469c78c4b8fac170e4c3d0
https://doi.org/10.1002/uog.14866

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Modified Array-based Comparative Genomic Hybridization Detects Cryptic and Variant PML-RARA Rearrangements in Acute Promyelocytic Leukemia Lacking Classic Translocations

Autor: Mark Fesler, Roger A. Schultz, Jacqueline R. Batanian, Raymond R. Tubbs, Blake C. Ballif, Heesun J. Rogers, Aaron M. Gruver, James R. Cook

Publikováno v: Diagnostic Molecular Pathology. 22:10-21

Acute promyelocytic leukemia (APL) is typically defined at the molecular level by a reciprocal translocation of the promyelocytic leukemia (PML) and retinoic acid receptor α (RARA) genes. An accurate diagnosis of APL is critical for appropriate choi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e86edf03ad77a11b2a0140a66cb40b7
https://doi.org/10.1097/pdm.0b013e31825b8326

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MHC class I gene organization in > 1.5-Mb YAC contigs from the H2-M region

Autor: Hans Lehrach, Roger A. Schultz, Zdenek Trachtulec, Elsy P. Jones, Hong Xiao, Kirsten Fischer Lindahl, Zoia Larin, Lorraine Flaherty, Vladimir Vincek

Sixteen yeast artificial chromosome (YAC) clones have been mapped to the H2-M region at the distal end of the mouse major histocompatibility complex (MHC) on chromosome 17. Analysis of the YACs with single and multicopy probes yielded a proximal cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d711bead226e1e2fc4f0f5bdd68c8e6c
https://doi.org/10.1006/geno.1995.1006

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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Autor: T.A. Smolarek, Jerome L. Gorski, Y. Senturias, M. Frydman, Blake C. Ballif, Jill A. Rosenfeld, Jay W. Ellison, D. Earl, Robin Troxell, B. Torchia, Karen D. Tsuchiya, Roger A. Schultz, M. Westemeyer, Brad Angle, Lisa G. Shaffer, S. Zimmerman, Katherine H. Kim

Publikováno v: Molecular Syndromology. 3:247-254

Microduplications of the Sotos syndrome region containing NSD1 on 5q35 have recently been proposed to cause a syndrome of microcephaly, short stature and developmental delay. To further characterize this emerging syndrome, we report the clinical deta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::811e63bd233216b286120529a1f9cbad
https://doi.org/10.1159/000345578

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Microarray-based comparative genomic hybridization of cancer targets reveals novel, recurrent genetic aberrations in the myelodysplastic syndromes

Autor: Lisa G. Shaffer, Lynda J. Campbell, Theresa C. Brown, Marilyn L. Slovak, Aubry Furrow, Jin Yeong Han, Roger A. Schultz, Meaghan Wall, Blake C. Ballif, Kathryn A. Kolquist

Publikováno v: Cancer Genetics. 204:603-628

The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterized by ineffective hematopoiesis, cytopenias, and a risk of transformation to acute myeloid leukemia (AML). However, only approximately 50% of primary MDS pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ceb985d21ceedbb9141cc82e003c86
https://doi.org/10.1016/j.cancergen.2011.10.004

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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Autor: Beth S. Torchia, J. Britt Ravnan, Aaron Theisen, Ian Casci, Bassem A. Bejjani, Nicholas J. Neill, Jill A. Rosenfeld, Roger A. Schultz, Trilochan Sahoo, Lisa G. Shaffer, Allen N. Lamb

Publikováno v: Genetics in Medicine. 13:868-880

Purpose: Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes assoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac728dfaa780c9e8e15234b594d85dbc
https://doi.org/10.1097/gim.0b013e3182217a06

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