Zobrazeno 1 - 10 of 21 pro vyhledávání: '"O. W. J. Quarrell"'
1
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome
Autor: Russell G. Snell, S. H. Roberts, O. W. J. Quarrell, Peter S. Harper, Maurice A. Curtis, D.J. Shaw
Publikováno v: Scopus-Elsevier
DNA samples were obtained from children with Wolf-Hirschhorn syndrome and their parents to assist with gene mapping studies of 4p16.3 (the region known to contain the Huntington's disease gene). A panel of seven families was studied, using polymorphi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aea8eefcb93319f2e7bf5d3ab93dae9
https://doi.org/10.1136/jmg.28.4.256
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2
Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience
Autor: Adrian Roberts, O. W. J. Quarrell, Peter S. Harper, Alan Fryer, Graham Foat, Meena Upadhyaya, Denise Robinson
Publikováno v: Prenatal Diagnosis. 10:593-603
Chorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorders or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e823067003e5704360a047107376722
https://doi.org/10.1002/pd.1970100908
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4
The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition
Autor: J A, Smith, H M, Brewer, V, Eatough, C A, Stanley, N W, Glendinning, O W J, Quarrell
Publikováno v: Clinical genetics. 69(6)
There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d4ff227544b6e2c51c9d09b35380246
https://pubmed.ncbi.nlm.nih.gov/16712700
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5
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)
Autor: D. Pilz, O. W. J. Quarrell, E. W. Jones
Publikováno v: Journal of Medical Genetics. 31:328-330
DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes me
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fabd399893d4c06bc821cd7a5e9cf2a
https://doi.org/10.1136/jmg.31.4.328
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7
Evidence for possible Mendelian inheritance of septo-optic dysplasia
Autor: Jerry Wales, O. W. J. Quarrell
Publikováno v: Acta paediatrica (Oslo, Norway : 1992). 85(3)
We describe two siblings from a highly consanguineous pedigree with absent mid-line brain structures and hypopituitarism. This raises the possibility of a heritable basis for at least some forms of the septo-optic dysplasia sequence.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8335eea1d757dff3384cf67b2667d99
https://pubmed.ncbi.nlm.nih.gov/8696006
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8
Exclusion testing in pregnancy for Huntington's disease
Autor: Peter S. Harper, L. P. Lazarou, O. W. J. Quarrell, Albert Tyler, A. L. Meredith
The results of DNA analysis are presented for a series of 90 couples, with one partner at 50% risk for Huntington's disease (HD), who were referred for exclusion testing in pregnancy over a three year period. Thirty-seven couples were studied in deta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b12327dd57df5be451274f78ebb0dff
https://europepmc.org/articles/PMC1017196/
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9
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea
Autor: D.J. Shaw, N. C. Nevin, Russell G. Snell, J C MacMillan, Peter S. Harper, O. W. J. Quarrell, Patrick J. Morrison
Publikováno v: Journal of Medical Genetics. 30:1012-1013
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab3cb0c2789a4dd87604da3bbd54672
https://doi.org/10.1136/jmg.30.12.1012
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