Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Smith, Claire E L, Poulter, James A, Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J, Inglehearn, Chris F, Mighell, Alan J
Published in Frontiers in physiology (26.06.2017)
Published in Frontiers in physiology (26.06.2017)
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Journal Article
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
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.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.
Published in American journal of human genetics (15.05.2009)
Published in American journal of human genetics (15.05.2009)
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Journal Article
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Journal Article
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
Parry, David A., PhD, Holmes, Tim D., PhD, Gamper, Nikita, PhD, El-Sayed, Walid, BDS, PhD, Hettiarachchi, Nishani T., PhD, Ahmed, Mushtaq, PhD, Cook, Graham P., PhD, Logan, Clare V., PhD, Johnson, Colin A., PhD, Joss, Shelagh, MRCP, Peers, Chris, PhD, Prescott, Katrina, FRCP, Savic, Sinisa, FRCP, PhD, Inglehearn, Chris F., PhD, Mighell, Alan J., FDSRCS, PhD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Journal Article
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
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
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Taylor, Rachel L, Soriano, Carla Sanjuro, Williams, Simon, Dzulova, Denisa, Ashworth, Jane, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Inglehearn, Chris F, Toomes, Carmel, Douzgou, Sofia, Black, Graeme C
Published in Orphanet journal of rare diseases (04.03.2022)
Published in Orphanet journal of rare diseases (04.03.2022)
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Journal Article
Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
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.
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Journal Article
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
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.
Published in American journal of human genetics (01.02.2009)
Published in American journal of human genetics (01.02.2009)
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Journal Article
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
Vithana, Eranga N, Morgan, Patricio, Sundaresan, Periasamy, Ebenezer, Neil D, Tan, Donald T H, Mohamed, Moin D, Anand, Seema, Khine, Khin O, Venkataraman, Divya, Yong, Victor H K, Salto-Tellez, Manuel, Venkatraman, Anandalakshmi, Guo, Ke, Hemadevi, Boomiraj, Srinivasan, Muthiah, Prajna, Venkatesh, Khine, Myint, Casey, Joseph R, Inglehearn, Chris F, Aung, Tin
Published in Nature genetics (01.07.2006)
Published in Nature genetics (01.07.2006)
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Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration
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
Published in Investigative ophthalmology & visual science (01.01.2011)
Published in Investigative ophthalmology & visual science (01.01.2011)
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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
Watson, Christopher M, El-Asrag, Mohammed, Parry, David A, Morgan, Joanne E, Logan, Clare V, Carr, Ian M, Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A, Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F, Ali, Manir
Published in PloS one (18.08.2014)
Published in PloS one (18.08.2014)
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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C.M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.
Published in American journal of human genetics (01.04.2004)
Published in American journal of human genetics (01.04.2004)
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Journal Article
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Journal Article
Matrix metalloproteinases in keratoconus – Too much of a good thing?
di Martino, Erica, Ali, Manir, Inglehearn, Chris F.
Published in Experimental eye research (01.05.2019)
Published in Experimental eye research (01.05.2019)
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