Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Romela Pasion"'
Autor:
Romela Pasion, Justin Schleede, Sabrina R. Williams, Peter Papenhausen, Jennifer Laffin, Kristy Lee, M. Katharine Rudd
Publikováno v:
Prenatal diagnosis. 38(12)
Noninvasive prenatal testing accurately detects trisomy for chromosomes 13, 21, and 18, but has a significantly lower positive predictive value for monosomy X. Discordant monosomy X results are often assumed to be due to maternal mosaicism, usually w
Publikováno v:
Prenatal diagnosis. 38(3)
Objective Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laborator
Autor:
Peter Papenhausen, Inder K. Gadi, Mary K. Rudd, Karen Phillips, Stuart Schwartz, Justin Schleede, James Tepperberg, Romela Pasion, Rachel D. Burnside, Huong Cabral
Publikováno v:
American Journal of Obstetrics and Gynecology. 218:S58-S59
Autor:
Jim Tepperberg, LaDonna Immken, David J. Amor, Stuart Schwartz, Virginia K. Proud, Peter Papenhausen, Joris Andrieux, Romela Pasion, Ghislaine Plessis, Tiong Yang Tan, Hiba Risheg, Elisabeth A. Keitges, Stephanie Sacharow
Publikováno v:
American Journal of Medical Genetics Part A. 161:1110-1116
We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart ab
Autor:
Hiba Risheg, Romela Pasion, Peter Papenhausen, Elisabeth A. Keitges, John Pappas, Kenneth J. Friedman, Rachel D. Burnside, Inder K. Gadi, Vikram L. Jaswaney, James Tepperberg, Stuart Schwartz
Publikováno v:
American Journal of Medical Genetics Part A. 155:757-768
Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay usi
Autor:
Brian Williford, Vik Jaswaney, James Tepperberg, Laura Kline, Jenny Shafer, Peter Papenhausen, Inder K. Gadi, Sharon Molinari, Karen Phillips, Rachel D. Burnside, Huong Cabral, Stuart Schwartz, Andrea Penton, Romela Pasion, Margriet Johansen
Publikováno v:
Cancer Genetics. 209:233-234
Autor:
Douglas Dahlbeck, Brian J. Staskawicz, Robert E. Stall, Thomas H. Tai, Maureen C. Whalen, Romela Pasion, Eszter T. Clark, Paresh Gajiwala
Publikováno v:
Proceedings of the National Academy of Sciences. 96:14153-14158
The Bs2 resistance gene of pepper specifically recognizes and confers resistance to strains of Xanthomonas campestris pv. vesicatoria that contain the corresponding bacterial avirulence gene, avrBs2 . The involvement of avrBs2 in pathogen fitness and
Autor:
Teresa Dunn, Romela Pasion, Carlos O. Fernandez, Rachel D. Burnside, Carla Mason, Joseph A. Gebbia, Meredith Masiello, Antonio Gonzalez-Ruiz, Hiba Risheg, Elisabeth A. Keitges
Publikováno v:
American journal of medical genetics. Part A. (7)
Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of C
Autor:
Justin Schleede, Erica Wymore, Peter Papenhausen, Hiba Risheg, David Manchester, Bethany Tucker, Karen Phillips, Romela Pasion, Ali Noorjahan, Karen David
Publikováno v:
Cancer Genetics. 209:248
Autor:
Whitney Neufeld-Kaiser, Romela Pasion, Jim Tepperberg, Briana Lubben, Elizabeth Starkey, Yajuan J. Liu, Hiba Risheg
Publikováno v:
Cancer Genetics. 209:229