Zobrazeno 1 - 7
of 7
pro vyhledávání: '"J A Fantes"'
Publikováno v:
Journal of Medical Genetics. 35:829-832
X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa5bb3c13f4a13efe5389bb1055eda5
https://doi.org/10.1136/jmg.35.10.829
https://doi.org/10.1136/jmg.35.10.829
Autor:
J A Fantes, Richard Lathe, Kenneth W. Dobie, Anthony John Clark, E Graham, Anthea Springbett, M Lee, M McClenaghan
Publikováno v:
Proceedings of the National Academy of Sciences. 93:6659-6664
Mice carrying an ovine beta-lactoglobulin (BLG) transgene secrete BLG protein into their milk. To explore transgene expression stability, we studied expression levels in three BLG transgenic mouse lines. Unexpectedly, two lines exhibited variable lev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6295daeadc683f43e63a203be978b49f
https://doi.org/10.1073/pnas.93.13.6659
https://doi.org/10.1073/pnas.93.13.6659
Autor:
J. A. Fantes, A. Condie, J Prosser, Andrew H. Wyllie, Malcolm G. Dunlop, J. M. Horn, M. Wright
Publikováno v:
British Journal of Cancer
Overall, the causative APC mutation has been identified in only 30% of the patients with familial adenomatous polyposis (FAP) who have been included in studies reported in the literature. In order to determine the true frequency of detectable APC mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accb4b439f1f8565e2d7355cbcfd353e
https://doi.org/10.1038/bjc.1994.408
https://doi.org/10.1038/bjc.1994.408
Autor:
J A, Fantes, D K, Green
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 5
Flow cytometry has provided the cytogeneticist with a fast and accurate method of measuring the quantity of DNA in each human chromosome (1). Almost all the chromosomes in the human complement can now be resolved and abnormal chromosomes and aneuploi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c02a592aec3e5899338cf12748f29c5
https://pubmed.ncbi.nlm.nih.gov/21374148
https://pubmed.ncbi.nlm.nih.gov/21374148
Autor:
C M, Aalfs, J A, Fantes, L J, Wenniger-Prick, S, Sluijter, R C, Hennekam, V, van Heyningen, J M, Hoovers
Publikováno v:
American journal of medical genetics. 73(3)
We report on a girl with a duplication of chromosome band 11p12--13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e6532feed95827c3bd44227e42b9848a
https://pubmed.ncbi.nlm.nih.gov/9415682
https://pubmed.ncbi.nlm.nih.gov/9415682
Autor:
J. A. Fantes, D. K. Green
Publikováno v:
Flow Cytometry and Cell Sorting ISBN: 9783662027875
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c67b5e26bb38290129de9a95983b9292
https://doi.org/10.1007/978-3-662-02785-1_19
https://doi.org/10.1007/978-3-662-02785-1_19
Publikováno v:
Cytogenetics and cell genetics. 50(4)
We have established a new Epstein-Barr virus transformed cell line from a patient with B-cell follicular lymphoma. Telomeric fusions were observed in several subclones, with the nonrandom involvement of chromosomes 1, 5, 12, and 17. Centromeric stain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded849ac224812196417f408abc1765a
https://pubmed.ncbi.nlm.nih.gov/2553339
https://pubmed.ncbi.nlm.nih.gov/2553339