Výsledky vyhledávání - "Roger, Laitt"

Prevalence and natural history of schwannomas in Neurofibromatosis type 2 (NF2): the influence of pathogenic variants

Autor: Daniel Moualed, Jonathan Wong, Owen Thomas, Calvin Heal, Rukhtam Saqib, Cameron Choi, Simon Lloyd, Scott Rutherford, Emma Stapleton, Charlotte Hammerbeck-Ward, Omar Pathmanaban, Roger Laitt, Miriam Smith, Andrew Wallace, Mark Kellett, Gareth Evans, Andrew King, Simon Freeman

Publikováno v: Moualed, D, Wong, J, Thomas, O, Heal, C, Saqib, R, Choi, C, Lloyd, S, Rutherford, S A, Stapleton, E, Hammerbeck-ward, C, Pathmanaban, O, Laitt, R, Smith, M, Wallace, A, Kellett, M, Evans, G, King, A & Freeman, S 2022, ' Prevalence and natural history of schwannomas in Neurofibromatosis type 2 (NF2): the influence of pathogenic variants ', European Journal of Human Genetics, vol. 30, no. 4, pp. 458-464 . https://doi.org/10.1038/s41431-021-01029-y
Eur J Hum Genet

Aims: To characterise the natural history of vestibular, trigeminal and lower cranial nerve schwannomas (VS, TS, LCNS) in patients with Neurofibromatosis type 2 (NF2). To understand how pathogenic variants (PVs) of the NF2 gene affect tumour burden a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e78568512549322abcc754a61c58af03
https://doi.org/10.1038/s41431-021-01029-y

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Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf947c2aee5b8ac14ebd0ccad711d6ea
https://doi.org/10.1038/s41436-019-0598-7

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Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

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=

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19696baad021980a995634cd55e5d0b5
https://doi.org/10.1038/s41436-018-0384-y

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Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution

Autor: Andrew T. King, Elaine F. Harkness, Emma M. Stapleton, D. Gareth Evans, Scott A. Rutherford, Grace Vassallo, Stavros Stivaros, Roger Laitt, Omar N. Pathmanaban, Claire Forde, Simon Kerrigan, Simon R. Freeman, Martin G. McCabe, Miriam J. Smith, Charlotte Hammerbeck-Ward, Simon K W Lloyd, John Paul Kilday, Catherine McBain, Owen M. Thomas

Publikováno v: Neuro Oncol

Background Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design. Methods A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990 and 2020, was evaluated. Follow-up

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37675ce2c126c2d68e24cae1f01b5c7e
https://doi.org/10.1093/neuonc/noaa284

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Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene

Autor: Mark Kellett, Omar N. Pathmanaban, Andrew T. King, Charlotte Hammerbeck-Ward, Jemma Bischetsrieder, Patrick R. Axon, Scott A. Rutherford, Miriam J. Smith, Simon R. Freeman, Jaishri O. Blakeley, D. Gareth Evans, Owen M. Thomas, Claire Hartley, Roger Laitt, Andrew J Wallace, Simon K W Lloyd

Publikováno v: The Laryngoscope
Evans, D G, Wallace, A J, Hartley, C, Freeman, S R, Lloyd, S K, Owen, T, Axon, P R, Hammerbeck-Ward, C, Pathmanaban, O, Rutherford, S A, Kellett, M, Laitt, R, King, A, Bischetsrieder, J, Blakeley, J & Smith, M J 2018, ' Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene ', The Laryngoscope, vol. 129, no. 4, pp. 967-973 . https://doi.org/10.1002/lary.27554

Objectives/hypothesis Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a6d208f4075c599e0b29b08a643d67
http://europepmc.org/articles/PMC6563429

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Schwannomatosis: a genetic and epidemiological study

Publikováno v: Evans, D G, Bowers, N L, Tobi, S, Hartley, C, Wallace, A J, King, A T, Lloyd, S K W, Rutherford, S A, Hammerbeck-Ward, C, Pathmanaban, O N, Freeman, S R, Ealing, J, Kellett, M, Laitt, R, Thomas, O, Halliday, D, Ferner, R, Taylor, A, Duff, C, Harkness, E F & Smith, M J 2018, ' Schwannomatosis: a genetic and epidemiological study ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 89, no. 11, pp. 1215-1219 . https://doi.org/10.1136/jnnp-2018-318538

ObjectivesSchwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29c0c07933bb46d6a6fcfe1285e610e
https://doi.org/10.1136/jnnp-2018-318538

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Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)

To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where ava

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4180806d99a2fcb91a0ac5e93f02c147
https://pubmed.ncbi.nlm.nih.gov/31273341

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High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient

Autor: Roger Laitt, Mark Kellett, Andrew T. King, Stavros Stivaros, Owen M. Thomas, Scott A. Rutherford, Freeman Sm, Chorlatte L. Hammerbeck-Ward, Omar N. Pathmanaban, Evans Dg, Rodriguez-Valero M, Simon K W Lloyd

Publikováno v: King, A, SA, R, C, H-W, SK, L, SM, F, ON, P, M, R-V, OM, T, RD, L, S, S, M, K & DG, E 2018, ' High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient. ', Neurosurgery . https://doi.org/10.1093/neuros/nyx374

BackgroundThe Manchester criteria for Neurofibromatosis Type 2 (NF2) includes a range of tumours, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas.ObjectWe have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf8282ed854eebc188f61be258a7bd9
https://pubmed.ncbi.nlm.nih.gov/28973691

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Imaging in Endoscopic Sinus Surgery

Autor: Christopher Hilditch, Gillian Potter, Roger Laitt

Publikováno v: Otorhinolaryngology: Head and Neck Surgery (2 Volumes)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::28544fb8054d4ca4898f725da96bfa48
https://doi.org/10.5005/jp/books/13036_99

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Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient

Autor: Charlotte Hammerbeck-Ward, Simon K W Lloyd, Omar N. Pathmanaban, Allyson Parry, Mark Kellett, Roger Laitt, Rupert Obholzer, Shazia K. Afridi, Patrick R. Axon, Dorothy Halliday, D. Gareth Evans, Andrew T. King, Stavros Stivaros, Sara Erridge, Martin G. McCabe, Scott A. Rutherford, Owen M. Thomas, Simon R. Freeman

Publikováno v: King, A T, Rutherford, S A, Hammerbeck-ward, C, Lloyd, S K, Freeman, S R, Pathmanaban, O, Kellett, M, Obholzer, R, Afridi, S, Axon, P, Halliday, D, Parry, A, Thomas, O M, Laitt, R D, Mccabe, M, Stivaros, S, Erridge, S C & Evans, D G 2018, ' Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient ', Neurosurgery, vol. 83, no. 1, pp. 38-42 . https://doi.org/10.1093/neuros/nyx368, https://doi.org/10.1093/neuros/nyx368

Background The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d02ff0fb212f0a554bfa0b1d6c8fb66
https://pubmed.ncbi.nlm.nih.gov/28973692

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