Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elizabeth Schorry"'
Autor:
Suha Bachir, Sanjit Shah, Scott Shapiro, Abigail Koehler, Abdelkader Mahammedi, Ravi N. Samy, Mario Zuccarello, Elizabeth Schorry, Soma Sengupta
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 2, p 690 (2021)
Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patie
Externí odkaz:
https://doaj.org/article/4e4a926ecd2b4e5e997ae9d34a8a1a22
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
Autor:
Myrthe J. Ottenhoff, André B. Rietman, Sabine E. Mous, Ellen Plasschaert, Daniela Gawehns, Hilde Brems, Rianne Oostenbrink, Rick van Minkelen, Mark Nellist, Elizabeth Schorry, Eric Legius, Henriette A. Moll, Ype Elgersma, Marie-Claire Y. de Wit, Pieter F.A. de Nijs, Jeroen S. Legerstee, Gwendolyn C. Dieleman, Leontine W. ten Hoopen
Publikováno v:
Genetics in Medicine, 22(5), 889-897. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 22, 889-897. NATURE PUBLISHING GROUP
Genetics in Medicine
Genetics in Medicine, 22, 889-897. NATURE PUBLISHING GROUP
PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally considered to be highly variable, possibly due to the observed T2-weighted hyperintensities, loss o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69241a8c572cfd355ec56634d11f4afa
https://hdl.handle.net/1887/135554
https://hdl.handle.net/1887/135554
Autor:
David T, Miller, Debra, Freedenberg, Elizabeth, Schorry, Nicole J, Ullrich, David, Viskochil, Bruce R, Korf, Joan M, Stoler
Publikováno v:
Pediatrics. 143
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary man
Autor:
Pamela L, Wolters, Staci, Martin, Vanessa L, Merker, James H, Tonsgard, Sondra E, Solomon, Andrea, Baldwin, Amanda L, Bergner, Karin, Walsh, Heather L, Thompson, Kathy L, Gardner, Cynthia M, Hingtgen, Elizabeth, Schorry, William N, Dudley, Barbara, Franklin, Kaleb, Yohay
Publikováno v:
Neurology. 87:S4-S12
Objective: Tumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcome
Autor:
Jonathan M, Payne, Belinda, Barton, Nicole J, Ullrich, Alan, Cantor, Stephen J C, Hearps, Gary, Cutter, Tena, Rosser, Karin S, Walsh, Gerard A, Gioia, Pamela L, Wolters, James, Tonsgard, Elizabeth, Schorry, David, Viskochil, Laura, Klesse, Michael, Fisher, David H, Gutmann, Alcino J, Silva, Scott J, Hunter, Celiane, Rey-Casserly, Nancy L, Cantor, Anna W, Byars, Peter L, Stavinoha, Joseph D, Ackerson, Carol L, Armstrong, Jill, Isenberg, Sharon H, O'Neil, Roger J, Packer, Bruce, Korf, Maria T, Acosta, Kathryn N, North, Cynthia, Flanigan
Publikováno v:
Neurology, vol 87, iss 24
Objective: To assess the efficacy of lovastatin on visuospatial learning and attention for treating cognitive and behavioral deficits in children with neurofibromatosis type 1 (NF1). Methods: A multicenter, international, randomized, double-blind, pl
Autor:
Brian, Weiss, Brigitte C, Widemann, Pamela, Wolters, Eva, Dombi, Alexander A, Vinks, Alan, Cantor, Bruce, Korf, John, Perentesis, David H, Gutmann, Elizabeth, Schorry, Roger, Packer, Michael J, Fisher
Publikováno v:
Pediatric bloodcancer. 61(6)
Patients with Neurofibromatosis Type 1 (NF1) have an increased risk of developing tumors of the central and peripheral nervous system, including plexiform neurofibromas (PN), which are benign nerve sheath tumors that are among the most debilitating c
Publikováno v:
The Journal of adolescent health : official publication of the Society for Adolescent Medicine. 35(4)
To examine the relationship between adolescents' families' perception of the severity of neurofibromatosis (NF1) and the clinical severity of NF1, a genetic condition with variable manifestations.The Perception of Severity of Chronic Illness (PSCI) q