Výsledky vyhledávání - Thorland, Erik C.

Overlapping PCR for Bidirectional PCR Amplification of Specific Alleles: A Rapid One-Tube Method for Simultaneously Differentiating Homozygotes and Heterozygotes Autor Liu, Qiang, Thorland, Erik C., Heit, John A., Sommer, Steve S.

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Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features Autor Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian

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Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2 Autor Lyon, Sarah M., Waggoner, Darrel, Halbach, Sara, Thorland, Erik C., Khorasani, Leila, Reid, Russell R.

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Incidence of TCR and TCL1 Gene Translocations and Isochromosome 7q in Peripheral T-cell Lymphomas Using Fluorescence In Situ Hybridization Autor Feldman, Andrew L., Law, Mark, Grogg, Karen L., Thorland, Erik C., Fink, Stephanie, Kurtin, Paul J., Macon, William R., Remstein, Ellen D., Dogan, Ahmet

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Experimental Designs for Array Comparative Genomic Hybridization (aCGH) Technology Autor McDonnell, Shannon K., Riska, Shaun M., Klee, Eric W., Thorland, Erik C., Kay, Neil E., Thibodeau, Stephen N., Parker, Alexander S., Eckel-Passow, Jeanette E.

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A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease Autor Mefford, Heather C., Cooper, Gregory M., Zerr, Troy, Smith, Joshua D., Baker, Carl, Shafer, Neil, Thorland, Erik C., Skinner, Cindy, Schwartz, Charles E., Nickerson, Deborah A., Eichler, Evan E.

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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy Autor Wang, Wei, Wang, Chen, Dawson, D. Brian, Thorland, Erik C., Lundquist, Patrick A., Eckloff, Bruce W., Wu, Yanhong, Baheti, Saurabh, Evans, Jared M., Scherer, Steven S., Dyck, Peter J., Klein, Christopher J.

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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... Autor Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Fluorescence In Situ Hybridization to Visualize Genetic Abnormalities in Interphase Cells of Acinar Cell Carcinoma, Ductal Adenocarcinoma, and Islet Cell Carcinoma of the Pancreas Autor Dewald, Gordon W., Smyrk, Thomas C., Thorland, Erik C., McWilliams, Robert R., Van Dyke, Daniel L., Keefe, Jeannette G., Belongie, Kimberly J., Smoley, Stephanie A., Knutson, Darlene L., Fink, Stephanie R., Wiktor, Anne E., Petersen, Gloria M.

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Malignant Melanoma in the 21st Century: The Emerging Molecular Landscape Autor Sekulic, Aleksandar, Haluska, Paul, Miller, Arlo J., De Lamo, Josep Genebriera, Ejadi, Samuel, Pulido, Jose S., Salomao, Diva R., Thorland, Erik C., Vile, Richard G., Swanson, David L., Pockaj, Barbara A., Laman, Susan D., Pittelkow, Mark R., Markovic, Svetomir N.

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The genomic landscape of small intestine neuroendocrine tumors Autor Banck, Michaela S., Kanwar, Rahul, Kulkarni, Amit A., Boora, Ganesh K., Metge, Franziska, Kipp, Benjamin R., Zhang, Lizhi, Thorland, Erik C., Minn, Kay T., Tentu, Ramesh, Eckloff, Bruce W., Wieben, Eric D., Wu, Yanhong, Cunningham, Julie M., Nagorney, David M., Gilbert, Judith A., Ames, Matthew M., Beutler, Andreas S.

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients Autor Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community Autor Tester, David J., Bombei, Hannah M., Fitzgerald, Kristi K., Giudicessi, John R., Pitel, Beth A., Thorland, Erik C., Russell, Barbara G., Hamrick, Samantha K., Kim, C. S. John, Haglund-Turnquist, Carla M., Johnsrude, Christopher L., Atkins, Dianne L., Ochoa Nunez, Luis A., Law, Ian, Temple, Joel, Ackerman, Michael J.

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Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia Autor Aypar, Umut, Smoley, Stephanie A., Pitel, Beth A., Pearce, Kathryn E., Zenka, Roman M., Vasmatzis, George, Johnson, Sarah H., Smadbeck, James B., Peterson, Jess F., Geiersbach, Katherine B., Van Dyke, Daniel L., Thorland, Erik C., Jenkins, Robert B., Ketterling, Rhett P., Greipp, Patricia T., Kearney, Hutton M., Hoppman, Nicole L., Baughn, Linda B.

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Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization Autor DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome Autor Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.

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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay Autor Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features Autor Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

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Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar Autor Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao-Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund-Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld-Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Vokac, Nadja Kokalj, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies Autor Miller, David T., Adam, Margaret P., Aradhya, Swaroop, Biesecker, Leslie G., Brothman, Arthur R., Carter, Nigel P., Church, Deanna M., Crolla, John A., Eichler, Evan E., Epstein, Charles J., Faucett, W. Andrew, Feuk, Lars, Friedman, Jan M., Hamosh, Ada, Jackson, Laird, Kaminsky, Erin B., Kok, Klaas, Krantz, Ian D., Kuhn, Robert M., Lee, Charles, Ostell, James M., Rosenberg, Carla, Scherer, Stephen W., Spinner, Nancy B., Stavropoulos, Dimitri J., Tepperberg, James H., Thorland, Erik C., Vermeesch, Joris R., Waggoner, Darrel J., Watson, Michael S., Martin, Christa Lese, Ledbetter, David H.

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