Zobrazeno 1 - 10
of 287
pro vyhledávání: '"S, Bundey"'
Publikováno v:
Developmental Medicine & Child Neurology. 29:711-719
SUMMARY An investigation of children in schools for the moderately mentally handicapped in Coventry demonstrated that 29 of 259 children had a significant chromosomal abnormality. 10 of 155 boys (6 per cent) and 10 of 104 girls (10 per cent) had the
Publikováno v:
Archives of Insect Biochemistry and Physiology. 52:183-192
The desert locust Schistocerca gregaria behaviorally thermoregulates in order to try and maintain a favoured "set point" body temperature. locusts infected with the deuteromycete fungal pathogen Metarhizium anisopliae var acridum choose a significant
Publikováno v:
Journal of Medical Genetics. 35:366-370
OBJECTIVE: To assess birth and gene frequencies of specific autosomal recessively inborn errors of metabolism (IEM) within different ethnic groups. DESIGN: Retrospective study in a regional centre for investigation and treatment of IEM. SUBJECTS: All
Publikováno v:
British Journal of Ophthalmology. 81:46-53
AIMS—To estimate the prevalence of Usher syndrome in the city of Birmingham, and to establish a database of patients who have been classified into different clinical subtypes essential for future gene mutation analysis. METHODS—Symptomatic cases
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:
Journal of Pediatric Ophthalmology & Strabismus. 38:117-119
Publikováno v:
Journal of Medical Genetics. 29:123-126
We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletio
Autor:
S. Bundey
Publikováno v:
Brain. 117:1218-1220
Publikováno v:
Journal of Medical Genetics. 30:449-451
Publikováno v:
British Journal of Ophthalmology. 77:168-170
A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resemb