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

por Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2016

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

por 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
Publicado 2017

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

por Brookes, Steven J., Barron, Martin J., Smith, Claire E.L., Poulter, James A., Mighell, Alan J., Inglehearn, Chris F., Brown, Catriona J., Rodd, Helen, Kirkham, Jennifer, Dixon, Michael J.
Publicado 2017

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

por Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., El‐Asrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2020

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

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

por Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Publicado 2015

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

por de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Publicado 2020