المؤلفون: Sadler KV; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Bowes J; Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester M13 9PL, UK., Rowlands CF; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London SM2 5NG, UK., Perez-Becerril C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., van der Meer CM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., King AT; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Rutherford SA; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Pathmanaban ON; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Hammerbeck-Ward C; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Lloyd SKW; Department of Otolaryngology, Manchester Royal Infirmary, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 9WL, UK.; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Freeman SR; Department of Otolaryngology, Manchester Royal Infirmary, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 9WL, UK., Williams R; Brain Tumour Biobank, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M6 8HD, UK., Hannan CJ; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK.; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Lewis D; Department of Neurosurgery, and Neuroradiology Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M6 8HD, UK., Eyre S; Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.

المصدر: Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 2861-2868.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Neuroma, Acoustic*/genetics , Neurilemmoma*/genetics , Neurilemmoma*/pathology , Neurofibromatoses*/genetics , Skin Neoplasms*/genetics , Neurofibromatosis 2*/genetics, Humans ; Genome-Wide Association Study ; Transcription Factors/genetics

المؤلفون: Sadler KV; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Rowlands CF; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Smith PT; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Hartley CL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Bowers NL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Roberts NY; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Harris JL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Wallace AJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK., Evans DG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Smith MJ; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

المصدر: Human mutation [Hum Mutat] 2022 May; Vol. 43 (5), pp. 643-654. Date of Electronic Publication: 2022 Apr 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Neurofibromatosis 2* , Neurofibromin 2*/genetics, Genetic Association Studies ; Genomics ; Humans ; Mutation, Missense

المؤلفون: Sadler KV; Manchester Centre for Genomic Medicine, The University of Manchester, Manchester, UK., Bowers NL; Genetic Medicine, University of Manchester, Manchester, UK., Hartley C; Genetic Medicine, Regional Genetic Laboratories, Manchester, UK., Smith PT; Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Tobi S; Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wallace AJ; Manchester University NHS Foundation Trust, Manchester, UK., King A; Neurosurgery, Salford Royal Hospital, Manchester, UK., Lloyd SKW; Department of Otolaryngology, Manchester Royal Infirmary, Manchester, UK., Rutherford S; Neurosurgery, Salford Royal Hospital, Manchester, UK., Pathmanaban ON; Department of Neurosurgery, Salford Royal NHS Foundation Trust, Salford, UK., Hammerbeck-Ward C; Department of Neurosurgery, Salford Royal NHS Foundation Trust, Salford, UK., Freeman S; ENT, Manchester Royal infirmary, Manchester, UK., Stapleton E; Department of Otolaryngology, Manchester Royal Infirmary, Manchester, UK., Taylor A; Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK., Shaw A; Department of Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Halliday D; Oxford Centre for Genetic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Neurosciences, NF2 Unit, Oxford, UK., Smith MJ; Genetic Medicine, University of Manchester, Manchester, UK., Evans DG; Clinical Genetics, Manchester University NHS Foundation Trust, Manchester, UK gareth.evans@mft.nhs.uk.

المصدر: Journal of medical genetics [J Med Genet] 2021 Apr; Vol. 58 (4), pp. 227-233. Date of Electronic Publication: 2020 Jun 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromin 2/*genetics , Neuroma, Acoustic/*genetics , SMARCB1 Protein/*genetics , Transcription Factors/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Middle Aged ; Neurilemmoma/diagnosis ; Neurilemmoma/epidemiology ; Neurilemmoma/genetics ; Neurofibromatoses/diagnosis ; Neurofibromatoses/epidemiology ; Neurofibromatoses/genetics ; Neurofibromatosis 2/diagnosis ; Neurofibromatosis 2/epidemiology ; Neurofibromatosis 2/genetics ; Neuroma, Acoustic/diagnosis ; Neuroma, Acoustic/epidemiology ; Skin Neoplasms/diagnosis ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics ; Young Adult

SCR Disease Name: Schwannomatosis

المؤلفون: Pathmanaban ON; Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England.; Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Centre for Paediatric, Teenage, and Young Adult Cancer, University of Manchester, Manchester, England., Sadler KV; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust and Manchester Academic Health Science Centre, Manchester, England., Kamaly-Asl ID; Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Centre for Paediatric, Teenage, and Young Adult Cancer, University of Manchester, Manchester, England.; Division of Molecular and Clinical Cancer Sciences, School of Medical Science, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, Manchester, England., King AT; Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England., Rutherford SA; Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England., Hammerbeck-Ward C; Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England., McCabe MG; Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Centre for Paediatric, Teenage, and Young Adult Cancer, University of Manchester, Manchester, England.; Division of Molecular and Clinical Cancer Sciences, School of Medical Science, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, Manchester, England., Kilday JP; Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Centre for Paediatric, Teenage, and Young Adult Cancer, University of Manchester, Manchester, England.; Division of Molecular and Clinical Cancer Sciences, School of Medical Science, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, Manchester, England., Beetz C; Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Jena, Germany., Poplawski NK; Adult Genetics Unit, South Australia Pathology at the Women's and Children's Hospital, and University Department of Paediatrics, University of Adelaide, Adelaide, Australia., Evans DG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust and Manchester Academic Health Science Centre, Manchester, England., Smith MJ; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust and Manchester Academic Health Science Centre, Manchester, England.

المصدر: JAMA neurology [JAMA Neurol] 2017 Sep 01; Vol. 74 (9), pp. 1123-1129.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Brain Neoplasms/*genetics , Meningeal Neoplasms/*genetics , Meningioma/*genetics , Neurilemmoma/*genetics , Spinal Cord Neoplasms/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Humans ; Infant ; Young Adult