Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Allyson, Parry"'
Autor:
Dorothy Halliday, Joshua James Brown, Anne May, Rose Crabtree, Beatrice Emmanouil, Allyson Parry, Samuel Mackeith
Publikováno v:
BMJ Open Quality, Vol 10, Iss 1 (2021)
Externí odkaz:
https://doaj.org/article/61ab76cc6ddd4b549fe57949c1ba5dc6
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:
Martin Wasik, Beatrice Emmanouil, Srilakshmi M. Sharma, Allyson Parry, Peter Charbel Issa, Dorothy Halliday
Publikováno v:
Ophthalmic Research. 65:77-85
Introduction: This case-control study seeks to systematically characterize the central retinal findings in a large cohort of patients with neurofibromatosis type 2 (NF2) using spectral domain optical coherence tomography (SD-OCT) as well as the exami
Publikováno v:
Clinical Medicine. 23:100-100
Autor:
Omar N. Pathmanaban, Miriam J. Smith, Simon R. Freeman, Raji Anup, Mary Perry, D. Gareth Evans, Elaine F. Harkness, Emma Stapleton, Roger Laitt, Simon Tobi, Allyson Parry, Rupert Obholzer, Andrew T. King, Naomi L. Bowers, Philip T Smith, Shazia K. Afridi, Mark Kellett, Owen M. Thomas, Chris Duff, Grace Vassallo, Juliette Gair, Andrew J Wallace, Simon K W Lloyd, Scott A. Rutherford, Claire Hartley, Charlotte Hammerbeck-Ward, Stavros Stivaros, Patrick R. Axon, Dorothy Halliday
Publikováno v:
English Specialist NF research group 2019, ' Incidence of mosaicism in 1055 de novo NF2 cases: Much higher than previous estimates with high utility of Next Generation Sequencing. ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0598-7
PURPOSE: To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).METHODS: Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte
Publikováno v:
Halliday, D, Parry, A & Evans, D G 2019, ' Neurofibromatosis type 2 and related disorders ', Current opinion in oncology . https://doi.org/10.1097/CCO.0000000000000579
Purpose of reviewNeurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. This review highlights their overlapping phenotypes, new insight into NF2 ph
Autor:
Omar N. Pathmanaban, Mary Perry, Patrick R. Axon, Dorothy Halliday, Miriam J. Smith, Owen M. Thomas, Roger Laitt, Allyson Parry, Juliette Gair, Mark Kellett, Elaine F. Harkness, Emma Stapleton, Rosalie E. Ferner, Simon R. Freeman, Andrew J Wallace, Simon K.L. Lloyd, Scott A. Rutherford, Naomi L. Bowers, Andrew T. King, Shazia K. Afridi, Raji Anup, Simon Tobi, D. Gareth Evans, Charlotte Hammerbeck-Ward
Publikováno v:
The English Specialist NF2 research group 2019, ' Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing ', Genetics in Medicine, vol. 21, no. 7, pp. 1525-1533 . https://doi.org/10.1038/s41436-018-0384-y
Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=
Autor:
Zuzana Sipkova, Sally L Painter, Dorothy Halliday, John S. Elston, Beatrice Emmanouil, Allyson Parry
Publikováno v:
Journal of Neuro-Ophthalmology. 39:44-49
Objective Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological,
Autor:
James D. Ramsden, Beatrice Emmanouil, Rory Houston, Samuel MacKeith, Allyson Parry, Anne May, C Oliver Hanemann, Dorothy Halliday
Publikováno v:
The Laryngoscope. 129:974-980
Objectives/hypothesis This study set out to describe the progression of hearing loss in patients with neurofibromatosis type 2 (NF2), treated in a quaternary multidisciplinary clinic. It also aimed to compare hearing loss across patients grouped acco
Publikováno v:
Disability and Rehabilitation. 41:1632-1638
Patients with Neurofibromatosis type 2 often experience debilitating neuro-otological problems which affect their mobility and balance. This study examined the efficacy of a personalised program of vestibular rehabilitation for patients with Neurofib