Blue cone monochromacy: Causative mutations and associated phenotypes

Por Gardner, Jessica C., Michaelides, Michel, Holder, Graham E., Kanuga, Naheed, Webb, Tom R., Mollon, John D., Moore, Anthony T., Hardcastle, Alison J.
Publicado em 2009

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Por Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Publicado em 2010

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Por Webb, Tom R., Parfitt, David A., Gardner, Jessica C., Martinez, Ariadna, Bevilacqua, Dalila, Davidson, Alice E., Zito, Ilaria, Thiselton, Dawn L., Ressa, Jacob H.C., Apergi, Marina, Schwarz, Nele, Kanuga, Naheed, Michaelides, Michel, Cheetham, Michael E., Gorin, Michael B., Hardcastle, Alison J.
Publicado em 2012

Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy

Por Cideciyan, Artur V., Hufnagel, Robert B., Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B., Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C., Hardcastle, Alison J., Moore, Anthony T., Sisk, Robert A., Ahmed, Zubair M., Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Publicado em 2013

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

Por Brunkow, Mary E., Gardner, Jessica C., Van Ness, Jeff, Paeper, Bryan W., Kovacevich, Brian R., Proll, Sean, Skonier, John E., Zhao, L., Sabo, P. J., Fu, Ying-Hui, Alisch, Reid S., Gillett, Lucille, Colbert, Trenton, Tacconi, Paolo, Galas, David, Hamersma, Herman, Beighton, Peter, Mulligan, John T.
Publicado em 2001

The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic

Por Carroll, Joseph, Dubra, Alfredo, Gardner, Jessica C., Mizrahi-Meissonnier, Liliana, Cooper, Robert F., Dubis, Adam M., Nordgren, Rick, Genead, Mohamed, Connor, Thomas B., Stepien, Kimberly E., Sharon, Dror, Hunt, David M., Banin, Eyal, Hardcastle, Alison J., Moore, Anthony T., Williams, David R., Fishman, Gerald, Neitz, Jay, Neitz, Maureen, Michaelides, Michel
Publicado em 2012

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

Por Gardner, Jessica C, Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E, Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R, Webster, Andrew R, Holder, Graham E, Robson, Anthony G, Cheetham, Michael E, Liebelt, Jan, Ruddle, Jonathan B, Moore, Anthony T, Michaelides, Michel, Hardcastle, Alison J
Publicado no Hum Mutat (2014)

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

Por Patterson, Emily J., Wilk, Melissa, Langlo, Christopher S., Kasilian, Melissa, Ring, Michael, Hufnagel, Robert B., Dubis, Adam M., Tee, James J., Kalitzeos, Angelos, Gardner, Jessica C., Ahmed, Zubair M., Sisk, Robert A., Larsen, Michael, Sjoberg, Stacy, Connor, Thomas B., Dubra, Alfredo, Neitz, Jay, Hardcastle, Alison J., Neitz, Maureen, Michaelides, Michel, Carroll, Joseph
Publicado no Invest Ophthalmol Vis Sci (2016)

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Publicado em 2014

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Por Webb, Tom R., Matarin, Mar, Gardner, Jessica C., Kelberman, Dan, Hassan, Hala, Ang, Wei, Michaelides, Michel, Ruddle, Jonathan B., Pennell, Craig E., Yazar, Seyhan, Khor, Chiea C., Aung, Tin, Yogarajah, Mahinda, Robson, Anthony G., Holder, Graham E., Cheetham, Michael E., Traboulsi, Elias I., Moore, Anthony T., Sowden, Jane C., Sisodiya, Sanjay M., Mackey, David A., Tuft, Stephen J., Hardcastle, Alison J.
Publicado em 2012