Search Results - "Holtegaard, Leonard M"

Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions by Voss, Jesse S., CT, MB, Holtegaard, Leonard M., BS, MB, Kerr, Sarah E., MD, Fritcher, Emily G. Barr, CT, MB (ASCP), Roberts, Lewis R., MB, ChB, PhD, Gores, Gregory J., MD, Zhang, Jun, MD, Highsmith, W. Edward, PhD, Halling, Kevin C., MD, PhD, Kipp, Benjamin R., PhD

“…Summary Cholangiocarcinoma is a highly lethal cancer of the biliary tract. The intrahepatic subtype of cholangiocarcinoma is increasing in incidence globally…”
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma by McWilliams, Robert R., Petersen, Gloria M., Rabe, Kari G., Holtegaard, Leonard M., Lynch, Pamela J., Bishop, Michele D., Highsmith, W. Edward

“…BACKGROUND: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are common in white persons and are associated with pancreatic…”
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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study by Amos Wilson, Jean, Pratt, Victoria M, Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C, Bridgeman, Scott, Courtney, Ebony M, Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L, Holtegaard, Leonard M, Jama, Mohamed A, Jakupciak, John P, Johnson, Monique A, Labrousse, Paul, Lyon, Elaine, Prior, Thomas W, Richards, C. Sue, Richie, Kristy L, Roa, Benjamin B, Rohlfs, Elizabeth M, Sellers, Tina, Sherman, Stephanie L, Siegrist, Karen A, Silverman, Lawrence M, Wiszniewska, Joanna, Kalman, Lisa V

“…Fragile X syndrome, which is caused by expansion of a (CGG)n repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental…”
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Mutation Scanning of the RET Protooncogene Using High-Resolution Melting Analysis by Margraf, Rebecca L, Mao, Rong, Highsmith, W. Edward, Holtegaard, Leonard M, Wittwer, Carl T

“…Single-base pair missense mutations in exons 10, 11, 13, 14, 15, and 16 of the RET protooncogene are associated with the autosomal dominant multiple endocrine…”
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RET Proto-Oncogene Genotyping Using Unlabeled Probes, the Masking Technique, and Amplicon High-Resolution Melting Analysis by Margraf, Rebecca L, Mao, Rong, Highsmith, W. Edward, Holtegaard, Leonard M, Wittwer, Carl T

“…Single bp mutations in the RET proto-oncogene can cause multiple endocrine neoplasia type 2 syndromes. The conventional approach for genotyping RET mutations…”
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Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing by Pratt, Victoria M, Caggana, Michele, Bridges, Christina, Buller, Arlene M, DiAntonio, Lisa, Highsmith, W. Edward, Holtegaard, Leonard M, Muralidharan, Kasinathan, Rohlfs, Elizabeth M, Tarleton, Jack, Toji, Lorraine, Barker, Shannon D, Kalman, Lisa V

“…The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and…”
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