A single‐institution pediatric and young adult interventional oncology collaborative: Novel therapeutic options for relapsed/refractory solid tumors

Autor: Raja Shaikh, Brent R. Weil, Christopher B. Weldon, Nan Chen, Wendy B. London, Morgan Krush, Megan Anderson, Mark Gebhardt, Alanna J. Church, Steven G. DuBois, Yana Pikman, Jennifer Spidle, Catherine B. Wall, Angela Feraco, Nicole J. Ullrich, Jennifer W. Mack, Elizabeth Mullen, Junne Kamihara, Suzanne Forrest, Suzanne Shusterman, Katherine A. Janeway, Ahmad Alomari, Horacio Padua, Carlos Rodriguez‐Galindo, Allison F. O'Neill

Publikováno v: Cancer Medicine, Vol 12, Iss 12, Pp 13300-13308 (2023)

Abstract Background Pediatric interventional oncology (PIO) is a growing field intended to provide additional or alternative treatment options for pediatric patients with benign or malignant tumors. Large series of patients treated uniformly and subj

Externí odkaz: https://doaj.org/article/c80b0344ed624477a0354a19d3dcdca0

The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research

Autor: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf, Scott R. Plotkin

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)

Abstract Purpose The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neurofibromatosis (NF) care

Externí odkaz: https://doaj.org/article/3c97f009555e4e778a151ab8c261fa09

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

Autor: Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium

Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)

Abstract Objective Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism‐based treatments. However, translation from preclinica

Externí odkaz: https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis

Autor: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

Publikováno v: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins

PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c

Supplementary Tables S1 and S2 from Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA

Autor: David T. Miller, Nischalan Pillay, Angela C. Hirbe, Adrienne M. Flanagan, Peter J. Park, Matija Snuderl, Xia Wang, David Viskochil, Nicole J. Ullrich, Jeffrey J. Szymanski, R. Taylor Sundby, Jonathan Serrano, Paula Z. Proszek, Yoshihiro Nishida, Colin Miller, Daniel Lindsay, Raymond H. Kim, Justin T. Jordan, Kevin B. Jones, Jesse Hart, Alon Galor, Andrew Feber, Dana C. Borcherding, Brendan C. Dickson, Aikaterini Chatzipli, Marilyn M. Bui, Vanessa Eulo, Alyaa Al-Ibraheemi, Katherine Piculell, Christopher D. Steele, Isidro Cortes-Ciriano

Supplementary Table 1 includes the metadata on all subjects, including basic demographics and medical history. Supplementary Table 2 provides statistics on chrom 8 gene expression among tumors with H3K27me3 loss. Note: no changes have been made to th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15deb6bdcb75389ac6ff3546033511c4
https://doi.org/10.1158/2159-8290.22542118.v1