Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Karin E. Buckton"'
Autor:
Rhona De Mey, Karin E. Buckton, S Collyer, Jim Piper, Lynne Smith, Anna Frackiewicz, Andrew D. Carothers
Publikováno v:
Clinical Genetics. 21:280-289
Reproductive fitness of carriers of heterochromatic variants of the human karyotype was found to be normal. The method was based on a comparison between known carriers and known non-carriers from the same pedigree in respect of live births, generatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ec0daed21b59b86cb9b9b61ab21d34
https://doi.org/10.1111/j.1399-0004.1982.tb00764.x
https://doi.org/10.1111/j.1399-0004.1982.tb00764.x
Publikováno v:
Clinical Genetics. 9:389-398
In a survey of male patients admitted to the four maximum security hospitals in the United Kingdom during 1972 and 1973, 26 out of 611 (4.26%) karyotyped were found to have chromosome abnormalities. Of these, 13 (2.13%) had a 47,XYY abnormality; 5 (0
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2751471086f40243e9a5e47991e3da06
https://doi.org/10.1111/j.1399-0004.1976.tb02268.x
https://doi.org/10.1111/j.1399-0004.1976.tb02268.x
Publikováno v:
Annals of Human Genetics. 39:203-212
1. Malic enzyme has been examined by starch-gel electrophoresis in human cultured fibroblasts and in 60 brain samples. The polymorphism of MEM has been confirmed and the electrophoretic pattern suggests that this enzyme, like MES, is a tetramer. 2. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10420b4a359fc597d07fa51b3b3dc445
https://doi.org/10.1111/j.1469-1809.1975.tb00123.x
https://doi.org/10.1111/j.1469-1809.1975.tb00123.x
Publikováno v:
Cytogenetic and Genome Research. 15:103-111
A large family is described in which a (21q22q) Robertsonian translocation is segregating through three generations. The assessment of the risk of a translocation carrier producing an offspring with Down’s syndrome is calculated from the data in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c803df9ac9857ee1d14b580d259e68b1
https://doi.org/10.1159/000130506
https://doi.org/10.1159/000130506
Publikováno v:
Journal of Medical Genetics. 11:65-68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3866f8b8e12051f496bec04a592764a5
https://doi.org/10.1136/jmg.11.1.65
https://doi.org/10.1136/jmg.11.1.65
Autor:
H. J. Evans, Daryll K. Green, Andrew D. Carothers, Karin E. Buckton, J. K. Elder, Patricia Malloy, Judith A. Fantes
Publikováno v:
Human Genetics. 66:143-146
Frequency distributions of fluorescence intensity of ethidium bromide stained human chromosomes from nine phenotypically normal males are cross correlated and autocorrelated following repeated flow cytometric measurements. It is shown that each indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbed04a873589b6bdc4502060e14b46d
https://doi.org/10.1007/bf00286588
https://doi.org/10.1007/bf00286588
Publikováno v:
Journal of Medical Genetics. 11:50-64
The distribution of the points of breakage and reunion of a series of 58 Robertsonian translocations, 53 reciprocal translocations, and 10 inversions is described. An excess of 13/14 and 14/21 rearrangements was found among the Robertsonian transloca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4935c79d4453cb666178d14a38133ee1
https://doi.org/10.1136/jmg.11.1.50
https://doi.org/10.1136/jmg.11.1.50
Publikováno v:
Annals of Human Genetics. 37:261-274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765fcd72431f720c7c4efb2bb721b3e0
https://doi.org/10.1111/j.1469-1809.1974.tb01834.x
https://doi.org/10.1111/j.1469-1809.1974.tb01834.x
Autor:
M. A. Mace, Patricia A. Jacobs, J. Lindsten, P.E. Polani, E. B. Robson, Karin E. Buckton, J. Noades, Maj Hultén
Publikováno v:
Annals of Human Genetics. 38:479-484
Data from seven families carrying rearrangements and variants of chromosome 2 have been analysed in relation to the assignment of ACP1 and MNSs. The data are consistent with the regional assignment of ACP1 to 2p23, but not with that of MNSs to band 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2165c558d8ee7e336ab01a0765372f24
https://doi.org/10.1111/j.1469-1809.1975.tb00637.x
https://doi.org/10.1111/j.1469-1809.1975.tb00637.x
Publikováno v:
BMJ. 282:255-258
Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3e6f81b86b2e12653853fe4fa9b00e5
https://doi.org/10.1136/bmj.282.6260.255
https://doi.org/10.1136/bmj.282.6260.255