F
Forbes D C Manson
Researcher at University of Manchester
Publications - 65
Citations - 3295
Forbes D C Manson is an academic researcher from University of Manchester. The author has contributed to research in topics: Retinitis pigmentosa & Autosomal recessive bestrophinopathy. The author has an hindex of 28, co-authored 62 publications receiving 3013 citations. Previous affiliations of Forbes D C Manson include University of Edinburgh & University of Pennsylvania.
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Journal ArticleDOI
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Alfons Meindl,K. L. Dry,Kathrin Herrmann,Forbes D C Manson,Alfredo Ciccodicola,A. J. Edgar,Maria Raquel Santos Carvalho,Helene Achatz,Heide Hellebrand,Alan Lennon,Carmela Migliaccio,K. Porter,Eberhart Zrenner,Alan C. Bird,Marcelle Jay,Birgit Lorenz,B. Wittwer,Michele D'Urso,Thomas Meitinger,A F Wright +19 more
TL;DR: The two intragenic deletions, two nonsense and three missense mutations within conserved domains provide evidence that RPGR (retinitis pigmentosa GTPase regulator) is the RP3 gene.
Journal ArticleDOI
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Rosemary Burgess,Rosemary Burgess,Ian D. Millar,Bart P. Leroy,Jill E. Urquhart,Jill E. Urquhart,Ian M. Fearon,Elfrida De Baere,Peter de Nully Brown,Anthony G. Robson,Anthony G. Robson,Genevieve A. Wright,Philippe Kestelyn,Graham E. Holder,Graham E. Holder,Andrew R. Webster,Andrew R. Webster,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +22 more
TL;DR: A distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram is described.
Journal ArticleDOI
Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Jill Yardley,Bart P. Leroy,Niki Hart-Holden,B. A. Lafaut,Bart Loeys,Ludwine Messiaen,Rahat Perveen,M. Ashwin Reddy,Shomi S. Bhattacharya,Elias I. Traboulsi,Diana Baralle,Jean-Jacques De Laey,Bernard Puech,Philippe Kestelyn,Anthony T. Moore,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +20 more
TL;DR: The data showed that V MD2 mutations caused defects of ocular patterning, supporting the hypothesized role for the RPE, and specifically VMD2, in the normal growth and development of the eye.
Journal ArticleDOI
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
May Tassabehji,Zhi Ming Fang,Emma Hilton,Julie McGaughran,Zhongming Zhao,Charles E. de Bock,Emma Howard,Michael Malass,Dian Donnai,Ashish D. Diwan,Forbes D C Manson,Dedee F. Murrell,Raymond A. Clarke +12 more
TL;DR: Mutations at the GDF6 gene locus are reported in familial and sporadic cases of Klippel‐Feil syndrome including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in associations with carpal, tarsal, and vertebral fusions.
Journal ArticleDOI
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
Alice E. Davidson,Ian D. Millar,Jill E. Urquhart,Rosemary Burgess-Mullan,Yusrah Shweikh,Neil R. A. Parry,James O'Sullivan,Geoffrey J. Maher,Martin McKibbin,Susan M. Downes,Andrew J. Lotery,Samuel G. Jacobson,Peter de Nully Brown,Graeme C.M. Black,Forbes D C Manson +14 more
TL;DR: Four missense mutations in bestrophin-1 are described, three that are believed to be previously unreported, in patients diagnosed with autosomal-dominant and -recessive forms of retinitis pigmentosa (RP).