Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ruthann Pfau"'
Autor:
Margaret Shatara, Kathleen M. Schieffer, Darren Klawinski, Diana L. Thomas, Christopher R. Pierson, Eric A. Sribnick, Jeremy Jones, Diana P. Rodriguez, Carol Deeg, Elizabeth Hamelberg, Stephanie LaHaye, Katherine E. Miller, James Fitch, Benjamin Kelly, Kristen Leraas, Ruthann Pfau, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Mohamed S. Abdelbaki, Jonathan L. Finlay, Daniel R. Boué, Catherine E. Cottrell, David R. Ghasemi, Kristian W. Pajtler, Diana S. Osorio
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old m
Externí odkaz:
https://doaj.org/article/caf4e2efb62e4d51aaa27696a5bedd05
Autor:
Sara Akhavanfard, Erik Nohr, Mohammad AlNajjar, Mollie Haughn, Sayaka Hashimoto, Carol Deeg, Ruthann Pfau, Marie-Anne Brundler, Shalini C. Reshmi
Publikováno v:
Case Reports in Oncology, Vol 14, Iss 1, Pp 585-591 (2021)
Neuroblastoma is the most common cancer in infants younger than 12 months of age, occurring with an incidence of 1 in 100,000 children. The clinical outcome of neuroblastoma ranges from spontaneous regression to treatment-resistant progression and/or
Externí odkaz:
https://doaj.org/article/0f7adf513d9144df8d44b43f2fe23a72
Autor:
Mariam T. Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither, Danielle Mouhlas, Sayaka Hashimoto, Maggie Humphrey, Theodora Matthews, Jesse M. Hunter, Shalini Reshmi, Matthew Schultz, Kristy Lee, Ruthann Pfau, Catherine Cottrell, Kim L. McBride, Nicholas E. Navin, Bimal P. Chaudhari, Marco L. Leung
Publikováno v:
The Journal of Molecular Diagnostics. 24:1031-1040
Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, a
Autor:
Marie-Anne Brundler, Mollie Haughn, Ruthann Pfau, Erik W Nohr, Carol Deeg, Sayaka Hashimoto, Mohammad AlNajjar, Shalini C. Reshmi, Sara Akhavanfard
Publikováno v:
Case Reports in Oncology. 14:585-591
Neuroblastoma is the most common cancer in infants younger than 12 months of age, occurring with an incidence of 1 in 100,000 children. The clinical outcome of neuroblastoma ranges from spontaneous regression to treatment-resistant progression and/or
Autor:
Michael Arnold, Cecelia R. Miller, Yvonne Moyer, Matthew R. Avenarius, Ryan D. Roberts, Richard K. Wilson, Selene C. Koo, Thomas Grossman, Julie M. Gastier-Foster, Martin Hobby, Elaine R. Mardis, Ruthann Pfau
Publikováno v:
J Mol Diagn
Somatic variants, primarily fusion genes and single-nucleotide variants (SNVs) or insertions/deletions (indels), are prevalent among sarcomas. In many cases, accurate diagnosis of these tumors incorporates genetic findings that may also carry prognos
Publikováno v:
International journal of surgical pathology. 29(8)
Intraplacental hepatic nodules are extremely rare and range from incidentally identified microscopic nodules to large mass-forming lesions. We describe the case of an incidentally identified intraparenchymal hepatic nodule in the placenta from a near
Autor:
Scott E. Hickey, Daniel C. Koboldt, Kim L. McBride, Theresa Mihalic Mosher, Saranga Wijeratne, Richard K. Wilson, Peter White, Bimal Chaudhari, Daniel K. Nolan, Ruthann Pfau, Erin Crist, Samuel J Franklin
Publikováno v:
Clinical Genetics. 100:775-776
Exon skipping associated with an ATP7B intronic variant in a patient with Wilson's disease. (A) Sashimi plot visualization of aligned RNA sequencing data from proband liver tissue at ATP7B exons 14-13-12. The red track shows traditional RNA-seq data;
Autor:
Kristy Lee, Kathleen M. Schieffer, Selene C. Koo, Vijayakumar Jayaraman, Eileen Stonerock, Thomas Grossman, Ruthann Pfau, Catherine E. Cottrell, Aimee McKinney, Michael Rose, Tim Peterson, Heather Jenkins, Micah Webster, Shalini C. Reshmi
Publikováno v:
Molecular Genetics and Metabolism. 132:S39-S40
Autor:
Shahab Asgharzadeh, Rachelle Tibbetts, Emily Hibbitts, Navin R. Pinto, Arlene Naranjo, Rebekah J. Kennedy, Xiangming Ding, Julie R. Park, Michael D. Hogarty, Susan G. Kreissman, Meredith S. Irwin, Ruthann Pfau
Publikováno v:
Journal of Clinical Oncology. 38:10502-10502
10502 Background: Patients with INSS stage III neuroblastoma represent a heterogeneous population with respect to disease presentation and prognosis and controversy exists regarding the most effective treatment algorithms. Patients ≥18 months of ag
Autor:
Peter White, Thomas Grossman, Vincent Magrini, Theodora Matthews, Vijayakumar Jayaraman, Elaine R. Mardis, Ashita Dave-Wala, Catherine E. Cottrell, Daniel C. Koboldt, Kristy Lee, Donald J. Corsmeier, Maggie Stein, Danielle Mouhlas, Richard K. Wilson, Ruthann Pfau, Aimee McKinney, Benjamin J. Kelly, Sayaka Hashimoto, Shalini C. Reshmi, Cecelia R. Miller
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of lower-frequency mosaic variation comp