Zobrazeno 1 - 10 of 85 pro vyhledávání: '"Sarah Bundey"'
1
Recurrence Risks in Families of Children with Symmetrical Spasticity
Autor: Sarah Bundey, Margaret I. Griffiths
Publikováno v: Developmental Medicine & Child Neurology. 19:179-191
SUMMARY This study was undertaken to evaluate the recurrence risks for sibs of patients with symmetrical spasticity (either quadriplegia or diplegia) in the absence of factors known to cause spastic cerebral palsy (e.g. pre-term birth, perinatal hypo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3265be080ca59d9a78c2c5d548386a31
https://doi.org/10.1111/j.1469-8749.1977.tb07968.x
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5
Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy
Autor: Simon Mitchell, Sarah Bundey
Publikováno v: Clinical Genetics. 51:7-14
Seven Pakistani families are described with children manifesting a spastic cerebral palsy-like syndrome. One feature common to all affected patients was symmetry of neurological signs. Only one of these families had been offered genetic counselling a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488e38c554b5c880a853bca6011e505f
https://doi.org/10.1111/j.1399-0004.1997.tb02406.x
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7
A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation
Autor: Trevor Cole, Karen P. Steel, Sarah Bundey, Jiu Mu Zou, Walter E. Nance, Carolyn Hope, Steve D.M. Brown, Chuan Yu Liang, Robert F. Mueller, Li Rong Xu, Xue-Zhong Liu
Publikováno v: The American Journal of Human Genetics. 64:1221-1225
This work was supported by the Medical Research Council, by Defeating Deafness of the United Kingdom, by European Community grant CT96-1324, and by National Institutes of Health R01 grant DC02530. C.H. acknowledges support from the British Retinitis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c6fa825acc3d8efffbea6fd8cddcb15
https://doi.org/10.1086/302332
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8
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25
Autor: D.P. McHale, David A. Campbell, L M Moynihan, Nicholas Lench, Sarah Bundey, S.J. Mitchell, C.G. Woods, AF Markham, Robert F. Mueller
Publikováno v: The American Journal of Human Genetics. 64(2):526-532
Cerebral palsy has an incidence of approximately 1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for approximately 1%-2% of cases in most countries but contribute a larger proportion in populat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78002f6792d3dffb19c32680186e7405
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9
Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome
Autor: Jiu Mu Zhou, Chuan Yu Liang, Dorothy Trump, Karen P. Steel, James Walsh, Xiao Mei Ke, Sarah Bundey, Xue-Zhong Liu, Steve D.M. Brown, Carolyn Hope, Li Ron Xu, Valerie Newton
Publikováno v: The American Journal of Human Genetics. 63:909-912
This work was supported by the Medical Research Council (U.K.), Defeating Deafness—the Hearing Research Trust, and SENSE and by European Community grant CT96-1324. C.H. acknowledges support from the British Retinitis Pigmentosa Society and the Birm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3198ddf21b99657ed5650eac52b5b09f
https://doi.org/10.1086/302026
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10
A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24
Autor: Nicholas Lench, Sarah Bundey, S.J. Mitchell, D.A. Campbell, Robert F. Mueller, D.P. McHale, Alex F. Markham
Publikováno v: The American Journal of Human Genetics. 62:1070-1076
Summary Nine affected individuals are described from a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal deg
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4aadddfab342fdeb9b8e373b380ec5
https://doi.org/10.1086/301821
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