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
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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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
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta
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.
Published in Human molecular genetics (01.04.2010)
Published in Human molecular genetics (01.04.2010)
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Journal Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
Physico-chemical properties of crystal surfaces in matrix–mineral interactions during mammalian biomineralisation
Kirkham, Jennifer, Brookes, Steven J., Shore, Roger C., Wood, Simon R., Smith, D.Alastair, Zhang, Jin, Chen, Haifeng, Robinson, Colin
Published in Current opinion in colloid & interface science (01.03.2002)
Published in Current opinion in colloid & interface science (01.03.2002)
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Journal Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
Poulter, James A, Brookes, Steven J, Shore, Roger C, Smith, Claire E L, Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
2D mapping of texture and lattice parameters of dental enamel
Al-Jawad, Maisoon, Steuwer, Axel, Kilcoyne, Susan H, Shore, Roger C, Cywinski, Robert, Wood, David J
Published in Biomaterials (2007)
Published in Biomaterials (2007)
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Journal Article
The developing enamel matrix: nature and function
Robinson, Colin, Brookes, Steven J., Shore, Roger C., Kirkham, Jennifer
Published in European journal of oral sciences (01.01.1998)
Published in European journal of oral sciences (01.01.1998)
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Journal Article
Bone Mineral “Quality”: Differing Characteristics of Calcified Microsphere Populations at the Osteoporotic and Osteoarthritic Femoral Articulation Front
Linton, Kathryn M., Hordon, Lesley D., Shore, Roger C., Aaron, Jean E.
Published in Journal of biomedical science and engineering (01.07.2014)
Published in Journal of biomedical science and engineering (01.07.2014)
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Journal Article
Binding of Matrix Proteins to Developing Enamel Crystals: An Atomic Force Microscopy Study
Wallwork, Mark L, Kirkham, Jennifer, Zhang, Jin, Smith, D. Alastair, Brookes, Steven J, Shore, Roger C, Wood, Simon R, Ryu, Okhee, Robinson, Colin
Published in Langmuir (17.04.2001)
Published in Langmuir (17.04.2001)
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Journal Article