Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C.M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.
Published in American journal of human genetics (01.04.2004)
Published in American journal of human genetics (01.04.2004)
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Journal Article
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
Poulter, James A, Davidson, Alice E, Ali, Manir, Gilmour, David F, Parry, David A, Mintz-Hittner, Helen A, Carr, Ian M, Bottomley, Helen M, Long, Vernon W, Downey, Louise M, Sergouniotis, Panagiotis I, Wright, Genevieve A, MacLaren, Robert E, Moore, Anthony T, Webster, Andrew R, Inglehearn, Chris F, Toomes, Carmel
Published in Investigative ophthalmology & visual science (14.05.2012)
Published in Investigative ophthalmology & visual science (14.05.2012)
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Journal Article
Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy
Toomes, Carmel, Bottomley, Helen M, Scott, Sheila, Mackey, David A, Craig, Jamie E, Appukuttan, Binoy, Stout, J. Timothy, Flaxel, Christina J, Zhang, Kang, Black, Graeme C. M, Fryer, Alan, Downey, Louise M, Inglehearn, Chris F
Published in Investigative ophthalmology & visual science (01.07.2004)
Published in Investigative ophthalmology & visual science (01.07.2004)
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Journal Article
Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy'
Bottomley, Helen M, Downey, Louise M, Inglehearn, Chris F, Toomes, Carmel
Published in European journal of human genetics : EJHG (01.01.2006)
Published in European journal of human genetics : EJHG (01.01.2006)
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Journal Article
Spectrum and frequency of FZD4 mutations in fasnilial exudative vitreoretinopathy
TOOMES, Carmel, BOTTOMLEY, Helen M, FRYER, Alan, DOWNEY, Louise M, INGLEHEARN, Chris F, SCOTT, Sheila, MACKEY, David A, CRAIG, Jamie E, APPUKUTTAN, Binoy, STOUT, J. Timothy, FLAXEL, Christina J, KANG ZHANG, BLACK, Graeme C. M
Published in Investigative ophthalmology & visual science (2004)
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Published in Investigative ophthalmology & visual science (2004)
Journal Article