Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes
Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.
Published in Journal of dental research (01.01.2024)
Published in Journal of dental research (01.01.2024)
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Journal Article
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta
Smith, C.E.L., Poulter, J.A., Brookes, S.J., Murillo, G., Silva, S., Brown, C.J., Patel, A., Hussain, H., Kirkham, J., Inglehearn, C.F., Mighell, A.J.
Published in Journal of dental research (01.06.2019)
Published in Journal of dental research (01.06.2019)
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Journal Article
The natural history of OPA1-related autosomal dominant optic atrophy
Cohn, A C, Toomes, C, Hewitt, A W, Kearns, L S, Inglehearn, C F, Craig, J E, Mackey, D A
Published in British journal of ophthalmology (01.10.2008)
Published in British journal of ophthalmology (01.10.2008)
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Journal Article
Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease
Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.
Published in American journal of human genetics (01.05.2006)
Published in American journal of human genetics (01.05.2006)
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Journal Article
Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation
El-Sayed, W., Shore, R.C., Parry, D.A., Inglehearn, C.F., Mighell, A.J.
Published in Cells, tissues, organs (01.01.2010)
Published in Cells, tissues, organs (01.01.2010)
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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
Marchbank, N J, Craig, J E, Leek, J P, Toohey, M, Churchill, A J, Markham, A F, Mackey, D A, Toomes, C, Inglehearn, C F
Published in Journal of medical genetics (01.08.2002)
Published in Journal of medical genetics (01.08.2002)
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Journal Article
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5
Downey, L M, Bottomley, H M, Sheridan, E, Ahmed, M, Gilmour, D F, Inglehearn, C F, Reddy, A, Agrawal, A, Bradbury, J, Toomes, C
Published in British journal of ophthalmology (01.09.2006)
Published in British journal of ophthalmology (01.09.2006)
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Journal Article
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
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
Published in Nature genetics (01.07.1999)
Published in Nature genetics (01.07.1999)
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A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2
Pal, B, Mohamed, M D, Keen, T J, Williams, G A, Bradbury, J A, Sheridan, E, Inglehearn, C F
Published in Journal of medical genetics (01.10.2004)
Published in Journal of medical genetics (01.10.2004)
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Journal Article
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree
Toomes, C, Downey, L M, Bottomley, H M, Mintz-Hittner, H A, Inglehearn, C F
Published in British journal of ophthalmology (01.02.2005)
Published in British journal of ophthalmology (01.02.2005)
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Journal Article
Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31
Ghazawy, S, Springell, K, Gauba, V, McKibbin, M A, Inglehearn, C F
Published in British journal of ophthalmology (01.10.2007)
Published in British journal of ophthalmology (01.10.2007)
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Journal Article
Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus
Mohamed, M D, Topping, N C, Jafri, H, Raashed, Y, McKibbin, M A, Inglehearn, C F
Published in British journal of ophthalmology (01.04.2003)
Published in British journal of ophthalmology (01.04.2003)
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Journal Article
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
Ponchel, Frederique, Toomes, Carmel, Bransfield, Kieran, Leong, Fong T, Douglas, Susan H, Field, Sarah L, Bell, Sandra M, Combaret, Valerie, Puisieux, Alain, Mighell, Alan J, Robinson, Philip A, Inglehearn, Chris F, Isaacs, John D, Markham, Alex F
Published in BMC biotechnology (13.10.2003)
Published in BMC biotechnology (13.10.2003)
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