Zobrazeno 1 - 10
of 15
pro vyhledávání: '"M E Ferguson-Smith"'
Publikováno v:
Prenatal Diagnosis. 14:1049-1054
A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9e039cdf711f1d34c6c9e3d40bf31c
https://doi.org/10.1002/pd.1970141107
https://doi.org/10.1002/pd.1970141107
Autor:
Yusuke Nakamura, Farida Latif, Maude E. Phipps, Nabeel A. Affara, M.A. Leversha, Berton Zbar, Eamonn R. Maher, Malcolm A. Ferguson-Smith, M. E. Ferguson-Smith, Michael I. Lerman
Publikováno v:
Human Genetics. 92:18-22
As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel of cytogenetic rearrangements involving th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c601b71cb952aba4b2b5d4f5d79e12bd
https://doi.org/10.1007/bf00216139
https://doi.org/10.1007/bf00216139
Publikováno v:
Journal of Medical Genetics. 29:742-744
We describe a 17 year old male with a low level of trisomy 9 mosaicism. Maternal uniparental chromosome 9 disomy in the euploid cell line was shown to have arisen after postzygotic loss of the paternal chromosome 9 from the trisomic cell line by cyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15d8070e847437370af4384b30d0375
https://doi.org/10.1136/jmg.29.10.742
https://doi.org/10.1136/jmg.29.10.742
Autor:
P. R. Raggatt, M. E. Ferguson-Smith, C. Carr, Malcolm A. Ferguson-Smith, P. J. D. Milton, S. F. Goodburn, A. J. Kershaw, J. R. W. Yates
Publikováno v:
Prenatal diagnosis. 14(5)
Over a 2-year period from January 1991 to December 1992, second-trimester maternal serum screening for Down's syndrome using alpha-fetoprotein (alpha FP), human chorionic gonadotrophin (hCG), and unconjugated oestriol (uE3) was made available to five
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c29d5fa7901be34154858deb0694b8
https://pubmed.ncbi.nlm.nih.gov/7521964
https://pubmed.ncbi.nlm.nih.gov/7521964
Autor:
Nabeel A. Affara, Nigel P. Carter, Malcolm A. Ferguson-Smith, M. E. Ferguson-Smith, H. Briggs
Publikováno v:
Cytometry. 11(1)
We have used bivariate flow karyotype analysis to quantify aberrant X chromosome size in 11 XX males. With one exception, the patients could be grouped into those with an X homologue difference greater than normal (Group A, n = 3) and into those whos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b39fd3a3bebe4aa6a4fc37b2d903ca
https://pubmed.ncbi.nlm.nih.gov/2106420
https://pubmed.ncbi.nlm.nih.gov/2106420
Publikováno v:
Journal of Clinical Pathology. 29:165-176
Seven years' experience in prenatal screening for fetal chromosome aberrations in the west of Scotland is reviewed. Fetal chromosome analysis was undertaken in 716 pregnancies, 49% of which were judged to be at substantial risk of a fetal chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086fa7827ab1ef1c67f6acf590e1f1af
https://doi.org/10.1136/jcp.29.suppl_10.165
https://doi.org/10.1136/jcp.29.suppl_10.165
Publikováno v:
Human Genetics. 80:197-200
We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c4c5a5c3cb3c64b84783fb8f8dd8ee
https://doi.org/10.1007/bf00702872
https://doi.org/10.1007/bf00702872
Publikováno v:
Journal of Medical Genetics. 6:422-425
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20376c74fa68474208eb066f9de7fb7
https://doi.org/10.1136/jmg.6.4.422
https://doi.org/10.1136/jmg.6.4.422
Publikováno v:
Proceedings of the annual symposium of the Eugenics Society. 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::63fa94971ef7897a8d9b20f9349e95f9
https://pubmed.ncbi.nlm.nih.gov/6199786
https://pubmed.ncbi.nlm.nih.gov/6199786
Autor:
M. E. Ferguson-Smith
Publikováno v:
The Genetics of Mental Retardation ISBN: 9789401070959
The Genetics of Mental Retardation
The Genetics of Mental Retardation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac85d6d7a2cef4725e33cec79601e910
https://doi.org/10.1007/978-94-009-1339-4_4
https://doi.org/10.1007/978-94-009-1339-4_4
