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

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

The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice

por Barron, Martin J., Brookes, Steven J., Draper, Clare E., Garrod, David, Kirkham, Jennifer, Shore, Roger C., Dixon, Michael J.
Publicado 2008

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

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

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta

por Barron, Martin J., Brookes, Steven J., Kirkham, Jennifer, Shore, Roger C., Hunt, Charlotte, Mironov, Aleksandr, Kingswell, Nicola J., Maycock, Joanne, Shuttleworth, C. Adrian, Dixon, Michael J.
Publicado 2010

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

por 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.
Publicado 2009

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

por Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Publicado 2016

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

por 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.
Publicado 2009

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

por Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2016