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

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

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

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

Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7083d532ffe74ab2b90a1a200417e1c
https://doi.org/10.1212/wnl.0000000000002927

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fdce3d09919e7c921db8fb9651fce133
https://pubmed.ncbi.nlm.nih.gov/24851266

Correction to: Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

Publikováno v: Human Molecular Genetics; 9/15/2022, Vol. 31 Issue 18, p3206-3206, 1p