1 - 25 of 32 results for author:"Richards A.J." in Literature citations
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| Somatic mosaicism and the phenotypic expression of COL2A1 mutations. Nagendran S., Richards A.J., McNinch A., Sandford R.N., Snead M.P. Am. J. Med. Genet. A 158A:1204-1207(2012) · Mapped (4) |
| Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations. Richards A.J., McNinch A., Whittaker J., Treacy B., Oakhill K., Poulson A., Snead M.P. Eur. J. Hum. Genet. 20:552-558(2012) · Mapped (15) |
| Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. Patel H.Y., Richards A.J., De Karolyi B., Best S.J., Danesh-Meyer H.V., Vincent A.L. Clin. Experiment. Ophthalmol. 40:e208-17(2012) · Mapped (6) |
| Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Richards A.J., McNinch A., Martin H., Oakhill K., Rai H., Waller S., Treacy B., Whittaker J., Meredith S., Poulson A. et al. Hum. Mutat. 31:E1461-E1471(2010) · UniProtKB (2) · Mapped (11) |
| Revealing a signaling role of phytosphingosine-1-phosphate in yeast. Cowart L.A., Shotwell M., Worley M.L., Richards A.J., Montefusco D.J., Hannun Y.A., Lu X. Mol. Syst. Biol. 6:349-349(2010) · Mapped (12) |
| Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. Richards A.J., Laidlaw M., Meredith S.P., Shankar P., Poulson A.V., Scott J.D., Snead M.P. Hum. Mutat. 28:639-639(2007) · Mapped (4) |
| High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Richards A.J., Laidlaw M., Whittaker J., Treacy B., Rai H., Bearcroft P., Baguley D.M., Poulson A., Ang A., Scott J.D. et al. Hum. Mutat. 27:696-704(2006) · UniProtKB (1) |
| A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Richards A.J., Meredith S., Poulson A., Bearcroft P., Crossland G., Baguley D.M., Scott J.D., Snead M.P. Invest. Ophthalmol. Vis. Sci. 46:663-668(2005) · UniProtKB (1) · Mapped (3) |
| Clinical features of type 2 Stickler syndrome. Poulson A.V., Hooymans J.M., Richards A.J., Bearcroft P., Murthy R., Baguley D.M., Scott J.D., Snead M.P. J. Med. Genet. 41:e107-e107(2004) · Mapped (11) |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. Richards A.J., Morgan J., Bearcroft P.W.P., Pickering E., Owen M.J., Holmans P., Williams N., Tysoe C., Pope F.M., Snead M.P. et al. J. Med. Genet. 39:661-665(2002) · UniProtKB (1) |
| Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Richards A.J., Baguley D.M., Yates J.R.W., Lane C., Nicol M., Harper P.S., Scott J.D., Snead M.P. Am. J. Hum. Genet. 67:1083-1094(2000) · UniProtKB (1) |
| COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Richards A.J., Martin S., Yates J.R., Scott J.D., Baguley D.M., Pope F.M., Snead M.P. Br J Ophthalmol 84:364-371(2000) · Mapped (4) |
| Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Martin S., Richards A.J., Yates J.R., Scott J.D., Pope M., Snead M.P. Eur. J. Hum. Genet. 7:807-814(1999) |
| A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. Richards A.J., Martin S., Nicholls A.C., Harrison J.B., Pope F.M., Burrows N.P. J. Med. Genet. 35:846-848(1998) · UniProtKB (1) |
| A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Burrows N.P., Nicholls A.C., Richards A.J., Luccarini C., Harrison J.B., Yates J.R., Pope F.M. Am. J. Hum. Genet. 63:390-398(1998) |
| The structural organisation of LAMA4, the gene encoding laminin alpha4. Richards A.J., Luccarini C., Pope F.M. Eur. J. Biochem. 248:15-23(1997) · UniProtKB (1) |
| A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Richards A.J., Yates J.R.W., Williams R., Payne S.J., Pope F.M., Scott J.D., Snead M.P. Hum. Mol. Genet. 5:1339-1343(1996) · UniProtKB (1) |
| Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Dunnill M.G.S., McGrath J.A., Richards A.J., Christiano A.M., Uitto J., Pope F.M., Eady R.A.J. J. Invest. Dermatol. 107:171-177(1996) · UniProtKB (1) |
| The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains. Richards A.J., Al-Imara L., Pope F.M. Eur. J. Biochem. 238:813-821(1996) · UniProtKB (1) |
| Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. Johnson P.H., Richards A.J., Lloyd J.C., Pope F.M., Hopkinson D.A. Hum. Mutat. 6:336-342(1995) · UniProtKB (1) |
| The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. Richards A.J., Narcisi P., Lloyd J.C., Ferguson C., Pope F.M. J. Med. Genet. 30:690-693(1993) · UniProtKB (1) |
| Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Narcisi P., Wu Y., Tromp G., Earley J.J., Richards A.J., Pope F.M., Kuivaniemi H. Am. J. Med. Genet. 46:278-283(1993) · UniProtKB (1) |
| Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. Richards A.J., Al-Imara L., Carter N.P., Lloyd J.C., Leversha M.A., Pope F.M. Genomics 22:237-239(1994) · UniProtKB (1) |
| A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen. Narcisi P., Richards A.J., Ferguson S.D., Pope F.M. Hum. Mol. Genet. 3:1617-1620(1994) · UniProtKB (1) |
| Cell-type-specific genes expressed late in Dictyostelium development show markedly different responses to 3'5' cyclic AMP. Richards A.J., Corney A.J., Hames B.D. Mol. Microbiol. 4:1279-1291(1990) · UniProtKB (2) |