Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M E, Robertson"'
Autor:
L V, Haughton, H A, Alsop, A C, Gibson, E M, Musson, M S, Rundle, A E, Windsor, Kate C, House, M E, Robertson, May C, Scott, Florence, Hazell, Chas E, Hecht
Publikováno v:
The Hospital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66978c9526be34fcc52f4e5286924223
https://pubmed.ncbi.nlm.nih.gov/29820820
https://pubmed.ncbi.nlm.nih.gov/29820820
Autor:
K, Buiting, C, Färber, P, Kroisel, K, Wagner, L, Brueton, M E, Robertson, C, Lich, B, Horsthemke
Publikováno v:
Clinical genetics. 58(4)
Prader-Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on chromosome 15. It is usually sporadic, and very few affected siblings have been described. Here, we report the clinical and molecular findings in two families with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c9ecf2e8ffeb6a56c3481d1f51c3d6f
https://pubmed.ncbi.nlm.nih.gov/11076053
https://pubmed.ncbi.nlm.nih.gov/11076053
Publikováno v:
Obstetrics and gynecology. 87(1)
Objective To determine the prevalence of the most common cystic fibrosis mutations in pregnancies complicated by fetal echogenic bowel by using DNA testing. Methods Forty-five pregnancies with fetal echogenic bowel were studied prospectively for cyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e826126f6a6daa5bd9bcf9a5dae8fd68
https://pubmed.ncbi.nlm.nih.gov/8532242
https://pubmed.ncbi.nlm.nih.gov/8532242
Publikováno v:
Prenatal diagnosis. 15(7)
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ecc4f46e9b2913005716c55b3bf80ef
https://pubmed.ncbi.nlm.nih.gov/8532629
https://pubmed.ncbi.nlm.nih.gov/8532629
Publikováno v:
Journal of Medical Genetics. 25:14-19
In August 1985 we instituted a carrier and prenatal testing service for Duchenne muscular dystrophy (DMD) using direct DNA analysis. The experience over the first nine months is described. We have analysed samples for RFLPs from 154 people including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c37884bf148f0b9cff51fef5db6619c
https://doi.org/10.1136/jmg.25.1.14
https://doi.org/10.1136/jmg.25.1.14
Autor:
M. E. Robertson-Mackay
Publikováno v:
Proceedings of the Prehistoric Society. 46:123-176
This barrow was excavated by the author for the Ancient Monuments Inspectorate of the then Ministry of Public Buildings and Works (now the Department of the Environment) in August and September 1965. The barrow was scheduled under the Ancient Monumen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4593a5e8e25c8009e38d1518aa91a6b2
https://doi.org/10.1017/s0079497x0000935x
https://doi.org/10.1017/s0079497x0000935x
Autor:
Judith A. Goodship, Roland J. Levinsky, Marianne Debré, S. Malcolm, G. de Saint Basile, Yu-Lung Lau, Alain Fischer, Jean-Louis Mandel, Marcus Pembrey, R. E. Callard, Claude Griscelli, B. Arveiler, P. Szabo, M. E. Robertson
Publikováno v:
Human Genetics. 77:172-174
Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3957ce5347b9ee0511fc23fba944a61a
https://doi.org/10.1007/bf00272387
https://doi.org/10.1007/bf00272387
Autor:
M. E. Robertson
Publikováno v:
Journal of the Society of Chemical Industry. 58:109-111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a3751c591bfc373abaf1c9335f02e35
https://doi.org/10.1002/jctb.5000580602
https://doi.org/10.1002/jctb.5000580602
Publikováno v:
Canadian journal of surgery. Journal canadien de chirurgie. 22(6)
Renewed interest in the management of intractable ascites has led to the use of a peritoneovenous shunt for its control. Analysis of Canadian experience with this technique in the last 2 years has demonstrated that there are problems associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c28b776bd7a3ce8ea1cbabb3d9afad2c
https://pubmed.ncbi.nlm.nih.gov/497929
https://pubmed.ncbi.nlm.nih.gov/497929
Autor:
M. E. Robertson, Shirley Hodgson, Claudine Fear, Judith A. Goodship, Barrie Jay, S. Malcolm, Martin Bobrow, Marcus Pembrey
Publikováno v:
Human genetics. 75(3)
We describe a family in which an X-chromosome deletion is segregating with choroideremia, and X-linked recessive condition. The DNA sequences DXYS1 and DXS3, defined by the probes pDP34 and 19.2 respectively, are absent in the affected male (who is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aed69efbf106b8186aff5af270f3cae9
https://pubmed.ncbi.nlm.nih.gov/3030927
https://pubmed.ncbi.nlm.nih.gov/3030927