Search Results - "Plant, Catherine"

Salvador Dali, 1904-1989: Gilles Neret ; [English translation Catherine Plant] by Neret, Gilles, Plant, Catherine

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa by Swaroop, Anand, Bhattacharya, Shomi S, Bessant, David A.R, Payne, Annette M, Mitton, Kenneth P, Wang, Qing-Liang, Swain, Prabodha K, Plant, Catherine, Bird, Alan C, Zack, Donald J

“…Retinitis pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of retinal degenerations that primarily affects the rod…”
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Intrafamilial Variation of Phenotype in Stargardt Macular Dystrophy-Fundus Flavimaculatus by Lois, Noemi, Holder, Graham E, Fitzke, Frederick W, Plant, Catherine, Bird, Alan C

“…To evaluate the intrafamilial phenotypic variation in Stargardt macular dystrophy-Fundus flavimaculatus (SMD-FFM). Thirty-one siblings from 15 families with…”
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Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study by Hardcastle, Alison J., Thiselton, Dawn L., Van Maldergem, Lionel, Saha, Bratin K., Jay, Marcelle, Plant, Catherine, Taylor, Rachel, Bird, Alan C., Bhattacharya, Shomi

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Linkage of congenital hereditary endothelial dystrophy to chromosome 20 by Toma, N M, Ebenezer, N D, Inglehearn, C F, Plant, C, Ficker, L A, Bhattacharya, S S

“…Congenital heredity endothelial dystrophy (CHED) is a rare autosomal dominant disorder of the cornea. We have performed genetic linkage analysis with…”
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Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus by Zito, I., Thiselton, D.L., Gorin, M.B., Stout, J.T., Plant, C., Bird, A.C., Bhattacharya, S.S., Hardcastle, A.J.

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A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p by Berry, Vanita, lonides, Alexander C. W., Moore, Anthony T., Plant, Catherine, Bhattacharya, Shomi S., Shiels, Alan

“…Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior…”
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The Gene Responsible for Autosomal Dominant Doyne's Honeycomb Retinal Dystrophy (DHRD) Maps to Chromosome 2p16 by Gregory, Cheryl Y., Evans, Kevin, Wijesuriya, Sujeewa D., Kermani, Sana, Jay, Marcelle R., Plant, Catherine, Cox, Nigel, Bird, Alan C., Bhattacharya, Shomi S.

“…Degeneration in the macula region of the retina is a feature of a heterogeneous group of inherited, progressive disorders, causing blinding visual impairment…”
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Novel mutations of theRPGR gene in RP3 families by Zito, Ilaria, Gorin, Michael B., Plant, Catherine, Bird, Alan C., Bhattacharya, Shomi S., Hardcastle, Alison J.

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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies by Payne, Annette M, Downes, Susan M, Bessant, David A R, Plant, Catherine, Moore, Tony, Bird, Alan C, Bhattacharya, Shomi S

“…The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of…”
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NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies by Bessant, D A, Payne, A M, Plant, C, Bird, A C, Swaroop, A, Bhattacharya, S S

“…The aim of this work was to identify NRL mutations in a panel of 200 autosomal dominant retinitis pigmentosa (adRP) families. All samples were subjected to…”
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A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity by Inglehearn, C F, Tarttelin, E E, Plant, C, Peacock, R E, al-Maghtheh, M, Vithana, E, Bird, A C, Bhattacharya, S S

“…Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by…”
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Genetic analysis of the guanylate cyclase activator 1B ( GUCA1B ) gene in patients with autosomal dominant retinal dystrophies: Table 1 by Payne, Annette M, Downes, Susan M, Bessant, David A R, Plant, Catherine, Moore, Tony, Bird, Alan C, Bhattacharya, Shomi S

“…The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of…”
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Novel frameshift mutations in the RP2 gene and polymorphic variants by Thiselton, Dawn L., Zito, Ilaria, Plant, Catherine, Jay, Marcelle, Hodgson, Shirley V., Bird, Alan C., Bhattacharya, Shomi S., Hardcastle, Alison J.

“…Mutations in the RP2 gene located on Xp11.23 are associated with X‐linked retinitis pigmentosa (XLRP), a severe form of progressive retinal degeneration which…”
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Novel frameshift mutations in theRP2 gene and polymorphic variants by Thiselton, Dawn L., Zito, Ilaria, Plant, Catherine, Jay, Marcelle, Hodgson, Shirley V., Bird, Alan C., Bhattacharya, Shomi S., Hardcastle, Alison J.

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Novel mutations of the RPGR gene in RP3 families by Zito, Ilaria, Gorin, Michael B., Plant, Catherine, Bird, Alan C., Bhattacharya, Shomi S., Hardcastle, Alison J.

“…X‐linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness…”
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Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q by Kelsell, R E, Godley, B F, Evans, K, Tiffin, P A, Gregory, C Y, Plant, C, Moore, A T, Bird, A C, Hunt, D M

“…Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis…”
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Further refinement of the Usher 2A locus at 1q41 by Bessant, D A, Payne, A M, Plant, C, Bird, A C, Bhattacharya, S S

“…Usher syndrome (USH) is characterised by congenital sensorineural hearing loss and progressive pigmentary retinopathy. All three subtypes (USH1, USH2, and…”
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Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD) by KERMANI, S, GREGORY-EVANS, K, TARTTELIN, E. E, BELLINGHAM, J, PLANT, C, BIRD, A. C, FOX, M, BHATTACHARYA, S. S, GREGORY-EVANS, C. Y

“…Doyne honeycomb retinal dystrophy (DHRD) is a late-onset autosomal dominant disorder that causes degeneration of the retina and can lead to blindness. We have…”
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Doyne revisited by JAY, M, PLANT, C, EVANS, K, GREGORY, C. Y

“…Inherited retinal dystrophies are important causes of blindness in the Western world. Molecular genetic techniques, and the use of large pedigrees exhibiting…”
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