Search Results - "Piqué, Daniel G"

Identification of a novel subgroup of endometrial cancer patients with loss of thyroid hormone receptor beta expression and improved survival by Piqué, Daniel G, Greally, John M, Mar, Jessica C

“…Endometrial cancer (EC) is the most common gynecologic cancer in women, and the incidence of EC has increased by about 1% per year in the U. S over the last 10…”
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An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome by Crenshaw, Molly M., Graw, Sharon L., Slavov, Dobromir, Boyle, Theresa A., Piqué, Daniel G., Taylor, Matthew, Baker, Peter

“…Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader–Willi Syndrome (PWS)…”
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Role for Mycobacterium tuberculosis Membrane Vesicles in Iron Acquisition by Prados-Rosales, Rafael, Weinrick, Brian C, Piqué, Daniel G, Jacobs, William R, Casadevall, Arturo, Rodriguez, G. Marcela

“…Mycobacterium tuberculosis releases membrane vesicles packed with molecules that can modulate the immune response. Because environmental conditions often…”
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A novel approach to modelling transcriptional heterogeneity identifies the oncogene candidate CBX2 in invasive breast carcinoma by Piqué, Daniel G., Montagna, Cristina, Greally, John M., Mar, Jessica C.

“…Background Oncogenes promote the development of therapeutic targets against subsets of cancers. Only several hundred oncogenes have been identified, primarily…”
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Congenital diaphragmatic hernia in siblings with PIGA ‐related congenital disorder of glycosylation by Crenshaw, Molly M., Thompson, Lauren, Piqué, Daniel G., Micke, Kestutis, Saenz, Margarita, Baker, Peter R.

“…Abstract There are over 150 proteins involved in glycosylphosphatidylinositol (GPI)‐anchored protein biosynthesis, a class within the larger category of…”
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Aneuvis: web-based exploration of numerical chromosomal variation in single cells by Piqué, Daniel G, Andriani, Grasiella A, Maggi, Elaine, Zimmerman, Samuel E, Greally, John M, Montagna, Cristina, Mar, Jessica C

“…Numerical chromosomal variation is a hallmark of populations of malignant cells. Identifying the factors that promote numerical chromosomal variation is…”
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Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations by Maldonado, Betzaida L., Piqué, Daniel G., Kaplan, Robert C., Claw, Katrina G., Gignoux, Christopher R.

“…Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs)…”
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Molecular evolution of a Y chromosome to autosome gene duplication in Drosophila by Dyer, Kelly A, White, Brooke E, Bray, Michael J, Piqué, Daniel G, Betancourt, Andrea J

“…In contrast to the rest of the genome, the Y chromosome is restricted to males and lacks recombination. As a result, Y chromosomes are unable to respond…”
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Anorectal malformation in a 46,XY patient with a de novo stop-loss variant in PPP1R12A and associated difference in sexual development: A case report by Harris, Kelly T., Pique, Daniel G., Wehrli, Lea A., Trecartin, Andrew, Roach, Jonathan, Meeks, Naomi J., Nokoff, Natalie J., Wilcox, Duncan T., Bischoff, Andrea

“…Here we report an infant with a 46,XY karyotype and novel de novo PPP1R12A stop-loss variant with a concomitant anorectal malformation (ARM) and difference in…”
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CONGENITAL DIAPHRAGMATIC HERNIA IN SIBLINGS WITH PIGA-RELATED CONGENITAL DISORDER OF GLYCOSYLATION by Crenshaw, Molly M., Pronman, Lauren, Piqué, Daniel G., Micke, Kestutis, Baker, Peter R.

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Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation by Crenshaw, Molly M, Thompson, Lauren, Piqué, Daniel G, Micke, Kestutis, Saenz, Margarita, Baker, Peter R

“…There are over 150 proteins involved in glycosylphosphatidylinositol (GPI)-anchored protein biosynthesis, a class within the larger category of congenital…”
Get full text

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome by Crenshaw, Molly M, Graw, Sharon L, Slavov, Dobromir, Boyle, Theresa A, Piqué, Daniel G, Taylor, Matthew, Baker, Peter

Get full text