N
Nigel Burrows
Researcher at Cambridge University Hospitals NHS Foundation Trust
Publications - 91
Citations - 3420
Nigel Burrows is an academic researcher from Cambridge University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Medicine & Randomized controlled trial. The author has an hindex of 25, co-authored 83 publications receiving 2756 citations. Previous affiliations of Nigel Burrows include Medical Research Council & University of Cambridge.
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Journal ArticleDOI
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait,Clair A. Francomano,Peter H. Byers,John W. Belmont,Britta Berglund,James H. Black,Lara Bloom,Jessica M Bowen,Angela F. Brady,Nigel Burrows,Marco Castori,Helen Cohen,Marina Colombi,Serwet Demirdas,Julie De Backer,Anne De Paepe,Sylvie Fournel-Gigleux,Michael Frank,Neeti Ghali,Cecilia Giunta,Rodney Grahame,Alan Hakim,Xavier Jeunemaitre,Diana Johnson,Birgit Juul-Kristensen,Ines Kapferer-Seebacher,Hanadi Kazkaz,Tomoki Kosho,Mark E. Lavallee,Howard P. Levy,Roberto Mendoza-Londono,Melanie Pepin,F. Michael Pope,Eyal Reinstein,Leema Robert,Marianne Rohrbach,Lynn Sanders,Glenda Sobey,Tim Van Damme,Anthony Vandersteen,Caroline van Mourik,Nicol C. Voermans,Nigel Wheeldon,Johannes Zschocke,Brad T. Tinkle +44 more
TL;DR: The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
Journal ArticleDOI
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
N. A. Alam,Andrew Rowan,Noel C. Wortham,Patrick J. Pollard,M. Mitchell,J P Tyrer,Ella Barclay,Eduardo Calonje,Sanjiv Manek,S J Adams,Philip Bowers,Nigel Burrows,R Charles-Holmes,L J Cook,B M Daly,G P Ford,L C Fuller,S E Hadfield-Jones,N Hardwick,A S Highet,M Keefe,S P MacDonald-Hull,E D A Potts,M Crone,S. M. Wilkinson,F Camacho-Martinez,S Jablonska,R. Ratnavel,Alastair A. Macdonald,Robert G. Mann,K Grice,G Guillet,M S Lewis-Jones,H McGrath,D C Seukeran,P J Morrison,Stewart Fleming,Shamima Rahman,David P. Kelsell,Irene M. Leigh,Simon E. Olpin,Ian Tomlinson +41 more
TL;DR: It is concluded that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.
Journal ArticleDOI
Harlequin Ichthyosis: A Review of Clinical and Molecular Findings in 45 Cases
Shefali Rajpopat,Celia Moss,Jemima E. Mellerio,Anders Vahlquist,Agneta Gånemo,Maritta Hellström-Pigg,Andrew Ilchyshyn,Nigel Burrows,Giles G. Lestringant,Aileen Taylor,Cameron T. C. Kennedy,D. Paige,John Harper,M. Glover,Philip Fleckman,David Everman,Mohamad Hassan Fouani,Hülya Kayserili,Diana Purvis,Emma Hobson,Carol Chu,Charles A. Mein,David P. Kelsell,Edel A. O'Toole +23 more
TL;DR: In this article, the authors assessed the clinical outcomes of 45 cases of harlequin ichthyosis and reviewed the underlying ABCA12 gene mutations in these patients and found that 52% of survivors had compound heterozygous mutations.
A Review of Clinical and Molecular Findings in 45 Cases
Shefali Rajpopat,Celia Moss,Jemima E. Mellerio,Anders Vahlquist,Maritta Hellström-Pigg,Andrew Ilchyshyn,Nigel Burrows,Giles G. Lestringant,Aileen Taylor,Cameron T. C. Kennedy,D. Paige,John Harper,M. Glover,Philip Fleckman,David Everman,Mohamad Hassan Fouani,Hülya Kayserili,Diana Purvis,Emma Hobson,Carol Chu,Charles A. Mein,David P. Kelsell +21 more
TL;DR: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal, with improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing and compound heterozygotes appear to have a survival advantage.
Journal ArticleDOI
Ehlers-Danlos syndrome, classical type.
Jessica M Bowen,Glenda Sobey,Nigel Burrows,Marina Colombi,Mark E. Lavallee,Fransiska Malfait,Clair A. Francomano +6 more
TL;DR: The aim of this literature review is to summarize the current knowledge and highlight areas for future research in classical EDS.