Zobrazeno 1 - 10
of 58
pro vyhledávání: '"M. Murer-Orlando"'
Publikováno v:
Genetica. 83:61-65
Prenatal diagnosis of chromosome abnormalities can be performed on three different samples; chorion villi (CVS), amniotic fluid (AFS) and fetal blood (FBS). We are presenting data from our own experience on the chromosome analysis of 957 CVS, 1000 AF
Publikováno v:
Scopus-Elsevier
Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cell
Autor:
Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13d
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
Publikováno v:
Annals of the New York Academy of Sciences. 731
Techniques have been reported in which fluorescence in situ hybridisation (FISH) and cosmid probes are used to detect trisomy 21 (and other abnormalities involving chromosomes X, Y, 13, and 18) on uncultured amniocytes. However the detection rate of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb23b1358637907c864bbc1a5a8b1d7
https://europepmc.org/articles/PMC1050076/
https://europepmc.org/articles/PMC1050076/
Publikováno v:
Prenatal diagnosis. 12(6)
We have attempted to evaluate the efficiency of interphase cytogenetics in the detection of specific aneuploidies in chorionic villus samples. For this purpose, we used alphoid repetitive sequences specific for the chromosomes involved in the common
Autor:
J C, Llerena, M, Murer-Orlando
Publikováno v:
Seminars in hematology. 28(2)
Publikováno v:
The Lancet. 342:686
Publikováno v:
Canadian Journal of Genetics and Cytology. 25:261-269
Human late prophase to late metaphase chromosomes were prepared after amethopterin cell synchronization. R-banding was produced by heat denaturation followed by Giemsa staining (RHG). Haploid sets of prophase chromosomes contain approximately 850 ban
Publikováno v:
Prenatal Diagnosis. 8:461-469
Chorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We sum