Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophya
Riazuddin, S. Amer, Vithana, Eranga N, Seet, Li‐Fong, Liu, Yangjian, Al‐Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N, Eghrari, Allen O, Gottsch, John D, Katsanis, Nicholas
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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Journal Article
Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p
Riazuddin, S. Amer, Zaghloul, Norann A., Al-Saif, Amr, Davey, Lisa, Diplas, Bill H., Meadows, Danielle N., Eghrari, Allen O., Minear, Mollie A., Li, Yi-Ju, Klintworth, Gordon K., Afshari, Natalie, Gregory, Simon G., Gottsch, John D., Katsanis, Nicholas
Published in American journal of human genetics (2010)
Published in American journal of human genetics (2010)
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Journal Article
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy
Riazuddin, S. Amer, Vithana, Eranga N., Seet, Li-Fong, Liu, Yangjian, Al-Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N., Eghrari, Allen O., Gottsch, John D., Katsanis, Nicholas
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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Journal Article
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2
Riazuddin, S Amer, Eghrari, Allen O, Al-Saif, Amr, Davey, Lisa, Meadows, Danielle N, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2009)
Published in Investigative ophthalmology & visual science (01.12.2009)
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Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase (Mthfr) Deficiency Suggests a Mechanism for Selection of the MTHFR 677C>T (c.665C>T) Variant
Meadows, Danielle N., Pyzik, Michal, Wu, Qing, Torre, Sabrina, Gros, Philippe, Vidal, Silvia M., Rozen, Rima
Published in Human mutation (01.05.2014)
Published in Human mutation (01.05.2014)
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Retroillumination Photography Analysis Enhances Clinical Definition of Severe Fuchs Corneal Dystrophy
Eghrari, Allen O, Garrett, Brian S, Mumtaz, Aisha A, Edalati, Armand E, Meadows, Danielle N, McGlumphy, Elyse J, Iliff, Benjamin W, Gottsch, John D
Published in Cornea (01.12.2015)
Published in Cornea (01.12.2015)
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Journal Article
Linkage of a Mild Late-Onset Phenotype of Fuchs Corneal Dystrophy to a Novel Locus at 5q33.1-q35.2
Riazuddin, S. Amer, Eghrari, Allen O, Al-Saif, Amr, Davey, Lisa, Meadows, Danielle N, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2009)
Published in Investigative ophthalmology & visual science (01.12.2009)
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Journal Article
Age-severity relationships in families linked to FCD2 with retroillumination photography
McGlumphy, Elyse J, Yeo, William S, Riazuddin, S Amer, Al-Saif, Amr, Wang, Jiangxia, Eghrari, Allen O, Meadows, Danielle N, Emmert, David G, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2010)
Published in Investigative ophthalmology & visual science (01.12.2010)
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Journal Article
Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy
Riazuddin, S. Amer, Vithana, Eranga N., Seet, Li-Fong, Liu, Yangjian, Al-Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N., Eghrari, Allen O., Gottsch, John D., Katsanis, Nicholas
Published in Human mutation (14.10.2010)
Published in Human mutation (14.10.2010)
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