G C Black
Affiliation: Christie Hospital
- A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14G C Black
University Department of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, England
Ophthalmology 106:2074-81. 1999..To undertake a clinical and molecular analysis of a previously unpublished kindred with a phenotypically distinct vitreoretinopathy characterized by associated ocular developmental abnormalities...
- Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesisG C Black
University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester M13 OJH, UK
Hum Mol Genet 8:2031-5. 1999..This supports recent observations that the protein is critical for normal retinal vasculogenesis...
- Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3R Perveen
University Department of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Hathersage Road, Manchester, M13 OJH, United Kingdom
Genomics 57:219-26. 1999..CSPG2 is shown to lie within the critical region; however, analysis of the complete coding region of the mature peptide reveals no clear evidence that it is the gene underlying WGN1...
- A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophyH Stewart
University Department of Medical Genetics, St Mary s Hospital, Manchester, England
Ophthalmology 106:964-70. 1999..A clinical and molecular analysis of three unrelated kindreds with a clinically distinct late-onset LCD was undertaken to determine whether this phenotype is also caused by mutations within the TGFBI gene...
- A mutation in the RIEG1 gene associated with Peters' anomalyW Doward
University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
J Med Genet 36:152-5. 1999..Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly...
- Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophyS Biswas
Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK
Hum Mol Genet 10:2415-23. 2001..This suggests that the underlying pathogenesis of FECD and PPCD may be related to disturbance of the role of type VIII collagen in influencing the terminal differentiation of the neural crest derived corneal endothelial cell...
- Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyC Toomes
Molecular Medicine Unit, Clinical Sciences Building, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
Hum Mol Genet 10:1369-78. 2001..No mutations were identified in any LHON patients, indicating that DOA and LHON are genetically distinct...
- LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong
Cell 107:513-23. 2001..These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass...
- Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in malesJ Clayton-Smith
Lancet 356:830-2. 2000..Somatic mosaicism could explain the occurrence of other X-linked dominant disorders in males, when they would normally be lethal...
- Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)S E Fisher
Biochemistry Department, University of Oxford, UK
Hum Mol Genet 3:2053-9. 1994..On the basis of the expression pattern, proposed function and deletion mapping, hCIC-K2 is a strong candidate for Dent's disease...
- Is the locus for Costello syndrome on 11p?B Kerr
J Med Genet 40:469-71. 2003