Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Journal Article
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.
Published in American journal of human genetics (01.02.2009)
Published in American journal of human genetics (01.02.2009)
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Journal Article
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Journal Article
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
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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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
Importance of Anatomical Efficacy for Disease Control in Neovascular AMD: An Expert Opinion
Balaskas, Konstantinos, Amoaku, Winfried M., Cudrnak, Tomas, Downey, Louise M., Groppe, Markus, Mahmood, Sajjad, Mehta, Hemal, Mohamed, Quresh, Mushtaq, Bushra, Severn, Philip, Vardarinos, Athanasios, Yang, Yit C.
Published in Ophthalmology and therapy (01.06.2021)
Published in Ophthalmology and therapy (01.06.2021)
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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
Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?
GILMOUR, David F, DOWNEY, Louise M, SHERIDAN, Eamonn, LONG, Vernon, BRADBURY, John, INGLEHEARN, Chris F, TOOMES, Carmel
Published in Ophthalmology (Rochester, Minn.) (01.08.2009)
Published in Ophthalmology (Rochester, Minn.) (01.08.2009)
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Journal Article
Familial Exudative Vitreoretinopathy and DiGeorge Syndrome
Gilmour, David F., FRCOphth, Downey, Louise M., FRCOphth, PhD, Sheridan, Eamonn, MBChB, Long, Vernon, FRCOphth, Bradbury, John, FRCOphth, Inglehearn, Chris F., PhD, Toomes, Carmel, PhD
Published in Ophthalmology (Rochester, Minn.) (2009)
Published in Ophthalmology (Rochester, Minn.) (2009)
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Journal Article
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
Downey, Louise M, Keen, T Jeffrey, Jalili, Ismail K, McHale, John, Aldred, Michael J, Robertson, Steven P, Mighell, Alan, Fayle, Steven, Wissinger, Bernd, Inglehearn, Chris F
Published in European journal of human genetics : EJHG (01.12.2002)
Published in European journal of human genetics : EJHG (01.12.2002)
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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
Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa
Burt, David W, Morrice, David R, Lester, Douglas H, Robertson, Graeme W, Mohamed, Moin D, Simmons, Ian, Downey, Louise M, Thaung, Caroline, Bridges, Leslie R, Paton, Ian R, Gentle, Mike, Smith, Jacqueline, Hocking, Paul M, Inglehearn, Chris F
Published in Molecular vision (30.04.2003)
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Published in Molecular vision (30.04.2003)
Journal Article
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken
Inglehearn, Chris F, Morrice, David R, Lester, Douglas H, Robertson, Graeme W, Mohamed, Moin D, Simmons, Ian, Downey, Louise M, Thaung, Caroline, Bridges, Leslie R, Paton, Ian R, Smith, Jacqueline, Petersen-Jones, Simon, Hocking, Paul M, Burt, David W
Published in Molecular vision (01.07.2003)
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Published in Molecular vision (01.07.2003)
Journal Article
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal- Recessive ConeRod Dystrophy and Amelogenesis Imperfecta
Parry, David A, Mighell, Alan J, El-Sayed, Walid, Shore, Roger C, Jalili, Ismail K, Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M, Downey, Louise M, Blain, Katharine M, Mansfield, David C, Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T, Kirkham, Jennifer, Inglehearn, Chris F
Published in American journal of human genetics (13.02.2009)
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Published in American journal of human genetics (13.02.2009)
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)
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