Proteomic profiling of the retinal dysplasia and degeneration chick retina

由 Finnegan, Sorcha, Robson, Joanne, Hocking, Paul M., Ali, Manir, Inglehearn, Chris F., Stitt, Alan, Curry, William J.
出版 2010

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

由 Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
出版 2014

prp8 mutations that cause human Retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

由 Boon, Kum-Loong, Grainger, Richard J., Ehsani, Parastoo, Barrass, J. David, Auchynnikava, Tatsiana, Inglehearn, Chris F., Beggs, Jean D.
出版 2007

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress

由 Klaus, Kristel, Butler, Kevin, Durrant, Simon J., Ali, Manir, Inglehearn, Chris F., Hodgson, Timothy L., Gutierrez, Humberto, Pennington, Kyla
發表在 Brain Behav (2017)

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

由 Smith, Claire E. L., Poulter, James A., Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J., Inglehearn, Chris F., Mighell, Alan J.
發表在 Front Physiol (2017)

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder

由 Boote, Craig, Elsheikh, Ahmed, Kassem, Wael, Kamma-Lorger, Christina S., Hocking, Paul M., White, Nick, Inglehearn, Chris F., Ali, Manir, Meek, Keith M.
出版 2011

Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

由 Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
發表在 Hum Mol Genet (2016)

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

由 Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
發表在 Sci Rep (2019)

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa

由 Ivings, Lenka, Towns, Katherine V., Matin, M.A., Taylor, Charles, Ponchel, Frederique, Grainger, Richard J., Ramesar, Rajkumar S., Mackey, David A., Inglehearn, Chris F.
出版 2008

Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea()

由 Boote, Craig, Hayes, Sally, Young, Robert D., Kamma-Lorger, Christina S., Hocking, Paul M., Elsheikh, Ahmed, Inglehearn, Chris F., Ali, Manir, Meek, Keith M.
出版 2009

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

由 Morgan, Siân R., Dooley, Erin P., Hocking, Paul M., Inglehearn, Chris F., Ali, Manir, Sorensen, Thomas L.-M., Meek, Keith M., Boote, Craig
出版 2013

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

由 Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Nancarrow, Derek, Sen, Parveen, McKibbin, Martin, Williams, Grange A, Arokiasamy, Tharigopala, Lakshmipathy, Praveena, Inglehearn, Chris F, Kumaramanickavel, Govindasamy
出版 2008

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

由 Ali, Manir, Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Mohamed, Moin D., Jafri, Hussain, Rashid, Yasmin, Danciger, Michael, McKibbin, Martin, Kumaramanickavel, Govindasamy, Inglehearn, Chris F.
出版 2008

Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

由 Graziotto, John J., Farkas, Michael H., Bujakowska, Kinga, Deramaudt, Bertrand M., Zhang, Qi, Nandrot, Emeline F., Inglehearn, Chris F., Bhattacharya, Shomi S., Pierce, Eric A.
出版 2011

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

由 Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
出版 2014

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

由 Poulter, James A., Murillo, Gina, Brookes, Steven J., Smith, Claire E. L., Parry, David A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
出版 2014

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

由 Smith, Claire EL, Whitehouse, Laura LE, Poulter, James A, Brookes, Steven J, Day, Peter F, Soldani, Francesca, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
發表在 Eur J Hum Genet (2017)

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

由 Sullivan, Lori S., Heckenlively, John R., Bowne, Sara J., Zuo, Jian, Hide, Winston A., Gal, Andreas, Denton, Michael, Inglehearn, Chris F., Blanton, Susan H., Daiger, Stephen P.
出版 1999

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

由 Inglehearn, Chris F., Lester, Douglas H., Bashir, Rumaisa, Atif, Uzma, Keen, T. Jeffrey, Sertedaki, Amalia, Lindsey, Janet, Jay, Marcelle, Bird, Alan C., Farrar, G. Jane, Humphries, Peter, Bhattacharya, Shomi S.
出版 1992

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

由 El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
出版 2009