Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Barrie Jay"'
Autor:
Barrie Jay
Over the past few years there have been considerable advances in our understanding of the normal development of vision and in our ability to detect and meaSl1re visual impairment in early childhood. It was appropriate, therefore, that a workshop, spo
Autor:
Barrie Jay, Roberto Sampaolesi
Publikováno v:
Survey of Ophthalmology. 40:400-404
Prof. Marc Amsler was an outstanding teacher of ophthalmology and a highly creative clinician, investigator and designer of instruments and surgical procedures. Well known for his design of the Amsler grid, he also conducted investigations into anter
Autor:
Barrie Jay, Marcelle Jay, S. Bundey, P. W. Teague, M A Aldred, R M Redmond, Shomi S. Bhattacharya, A C Bird, Alan F. Wright
Publikováno v:
Journal of Medical Genetics. 31:848-852
Three families with retinitis pigmentosa (RP) are described in which the disorder shows apparent X linked inheritance but does not show linkage to the RP2 and RP3 regions of the short arm of the X chromosome. The families are also inconsistent with a
Publikováno v:
Clinica Chimica Acta. 227:17-22
Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition
Publikováno v:
Journal of Medical Genetics. 29:906-910
We present a nine generation family with autosomal dominant retinitis pigmentosa (ADRP). Evidence of blindness in the early generations, as obtained from census returns and clinical records, and examination of current patients show variable expressiv
Publikováno v:
Eye. 6:197-200
Three hundred and thirty-five eyes of 210 patients with congenital glaucoma due to trabecular dysgenesis were treated by goniotomy as the primary procedure in infancy. In 313 eyes (93.5%) glaucoma was controlled at one year following surgery. Using K
Autor:
Nicholas Stuart Tudor Thomas, Andrew D. Carothers, H. J. Evans, Marcelle Jay, Barrie Jay, A C Bird, M. A. Aldred, Alan F. Wright, S. S. Bhattacharya
Publikováno v:
Journal of Medical Genetics. 28:453-457
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has been closely defined by genetic linkage and deletio
Autor:
Shomi S. Bhattacharya, Barrie Jay, A F Wright, A C Bird, Marcelle Jay, K. L. Dry, M A Aldred, Andrew D. Carothers, Douglas H. Lester
Publikováno v:
Cytogenetic and Genome Research. 58:2053-2067
Publikováno v:
Ophthalmic Paediatrics and Genetics. 14:1-3
Obstetric ultrasonography of an obligate Norrie disease carrier revealed bilateral retinal detachments in a third trimester male fetus. Postnatal examination confirmed the diagnosis of Norrie disease. DNA linkage analysis with the markers L1.28 and M
Autor:
Anthony F. Winder, Lars H. Breimer, Barrie Jay, Anthony T. Moore, Panos Panayiotidis, Marcelle Jay
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 243(1)
Molecular analysis of the human tyrosinage gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine