Zobrazeno 1 - 10
of 192
pro vyhledávání: '"D Ravine"'
Autor:
D. Ravine
Publikováno v:
Journal of Inherited Metabolic Disease. 22:503-518
Automated mutation analysis brings with it a vastly increased capacity in the number of test samples that can be processed at a time, as well as much improved test reproducibility. Until now, the introduction of automation into this field had been re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6298428dd1d24754dffe58985ed5ae
https://doi.org/10.1023/a:1005508324048
https://doi.org/10.1023/a:1005508324048
Autor:
David Neil Cooper, D. Ravine
Publikováno v:
Scopus-Elsevier
Recombinant DNA technology has made possible the localization and isolation of disease-related genes, the tracking of disease-related alleles through family pedigrees, the direct detection of the pathological lesion itself and the in vitro expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df60c82901732a7ecd8aebbe29c02b55
https://doi.org/10.1093/qjmed/90.2.83
https://doi.org/10.1093/qjmed/90.2.83
Autor:
A M J M, van den Maagdenberg, E E, Kors, E R, Brunt, W, van Paesschen, J, Pascual, D, Ravine, S, Keeling, K R J, Vanmolkot, F L M G, Vermeulen, G M, Terwindt, J, Haan, R R, Frants, M D, Ferrari
Publikováno v:
Journal of neurology. 249(11)
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c633e16bab25943f8e9ecc0f71d5f1e5
https://pubmed.ncbi.nlm.nih.gov/12420090
https://pubmed.ncbi.nlm.nih.gov/12420090
Autor:
H A, Jackson, K, Carter, C, Darke, M G, Guttridge, D, Ravine, R D, Hutton, J A, Napier, M, Worwood
Publikováno v:
British journal of haematology. 114(2)
People with genetic haemochromatosis (GH) accumulate iron from excessive dietary absorption. In populations of northern European origin, over 90% of patients are homozygous for the C282Y mutation of the HFE gene. While about 1 in 200 people in the ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f2630fb4f208cec99a406e52fcd67a36
https://pubmed.ncbi.nlm.nih.gov/11529872
https://pubmed.ncbi.nlm.nih.gov/11529872
Autor:
D Ravine, Priscilla Kincaid-Smith, Robert N Gibson, D. M. Danks, Leslie J. Sheffield, Rowan G. Walker
Publikováno v:
The Lancet. 337:127-129
In a study to determine the proportion of unrecognised cases and the prevalence of treatable complications of autosomal dominant polycystic kidney disease (ADPKD), 46 probands were identified through genetics and renal clinics in Melbourne, Australia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6907b0fb19fe2b01f40584e4237e90f0
https://doi.org/10.1016/0140-6736(91)90797-s
https://doi.org/10.1016/0140-6736(91)90797-s
Publikováno v:
Kidney international. 56(1)
Familial phenotype differences in PKD1.Mutations within the PKD1 gene are responsible for the most common and most severe form of autosomal dominant polycystic kidney disease (ADPKD). Although it is known that there is a wide range of disease severit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::015902340c270eb50e6cbb584587277d
https://pubmed.ncbi.nlm.nih.gov/10411712
https://pubmed.ncbi.nlm.nih.gov/10411712
Autor:
N, Hateboer, M A, v Dijk, N, Bogdanova, E, Coto, A K, Saggar-Malik, J L, San Millan, R, Torra, M, Breuning, D, Ravine
Publikováno v:
Lancet (London, England). 353(9147)
Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared with an unaffected control population in terms of survival. We report the findings of a mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d48b8b0475e164aa9729305e7b9b9d3d
https://pubmed.ncbi.nlm.nih.gov/10023895
https://pubmed.ncbi.nlm.nih.gov/10023895
Publikováno v:
Human genetics. 102(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6c40272ecb51041908244c8a89e0d144
https://pubmed.ncbi.nlm.nih.gov/9490292
https://pubmed.ncbi.nlm.nih.gov/9490292
Autor:
M, Lagerström-Fermér, M, Sundvall, E, Johnsen, G L, Warne, S M, Forrest, J D, Zajac, A, Rickards, D, Ravine, U, Landegren, U, Pettersson
Publikováno v:
American journal of human genetics. 60(4)
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e4fe4b4783112a87b87d7b67b501cce
https://pubmed.ncbi.nlm.nih.gov/9106538
https://pubmed.ncbi.nlm.nih.gov/9106538
Autor:
Gavin J. Becker, D. Ravine
Publikováno v:
Australian and New Zealand journal of medicine. 25(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de78035d0711a356a9a68cc1af834a10
https://pubmed.ncbi.nlm.nih.gov/8588766
https://pubmed.ncbi.nlm.nih.gov/8588766