Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity-Reference-Cited by-同舟云学术

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity

Published:2019-04-29 Issue:2 Volume:96 Page:151-162
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Halliday Dorothy¹²^ORCID,Emmanouil Beatrice²³^ORCID,Vassallo Grace⁴,Lascelles Karine⁵,Nicholson James⁶,Chandratre Saleel⁷,Anand Geetha⁸,Wasik Martin⁹,Pretorius Pieter¹⁰,Evans D. Gareth¹¹,Parry Allyson²¹²,Axon Patrick,Gair Juliette,Smyth Carolyn,Afridi Shazia K,Obholzer Rupert,Everett Vanessa,Jarvis Nicola,Henshaw Kirsty,Hanemann C Oliver,Howard Wendy,May Anne,Redman Carolyn,Rattihalli Rohini,Tomkins Helen,

Affiliation:

1. Oxford Centre for Genomic MedicineOxford University Hospitals NHS Trust Oxford UK

2. Oxford NF2 Unit, Oxford University Hospitals NHS Trust Oxford UK

3. Oxford Brookes University, Faculty of Health and Life Sciences, Department of Psychology, Health and Professional Development Oxford UK

4. Department of Paediatric NeurologyCentral Manchester University Hospitals NHS Foundation Trust Manchester UK

5. Department of Paediatric NeurologyGuy's and St Thomas' NHS Foundation Trust London UK

6. Department of Paediatric OncologyCambridge University Hospitals NHS Foundation Trust Cambridge UK

7. Department of Paediatric NeurologyOxford University Hospitals NHS Foundation Trust Oxford UK

8. Department of PaediatricsOxford University Hospitals NHS Foundation Trust Oxford UK

9. Department of OphthalmologyOxford University Hospitals NHS Foundation Trust Oxford UK

10. Depatment of NeuroradiologyOxford University Hospitals NHS Foundation Trust Oxford UK

11. Genomic Medicine, Division of Evolution and Genomic Sciences, MAHSCUniversity of Manchester, St Mary's Hospital Manchester UK

12. Department of NeurosciencesOxford University Hospitals NHS Foundation Trust Oxford UK

Funder

Biomedical Research Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13551

Reference50 articles.

1. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

2. Schwannomatosis: a genetic and epidemiological study

3. Management of the patient and family with neurofibromatosis 2: a consensus conference statement

4. Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients

5. A clinical study of type 2 neurofibromatosis;Evans DGR;QJM,1992

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