Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rosa Hayworth"'
Publikováno v:
Clinical Genetics. 45:17-20
Fluorescence in situ hybridization (FISH) with a chromosome-region-specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p – syndrome. Conf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e87e958c5799c1a1b53c20c7974066b8
https://doi.org/10.1111/j.1399-0004.1994.tb03983.x
https://doi.org/10.1111/j.1399-0004.1994.tb03983.x
Publikováno v:
Prenatal Diagnosis. 13:233-238
Rapid detection of aneuploidy using chromosome-specific repetitive DNA probes and the potential diagnostic accuracy of fluorescence in situ hybridization (FISH) on interphase cells of chorionic villus samples (CVS) are presented. Analyses demonstrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6cfbdab9251b7bad311571b5d83125
https://doi.org/10.1002/pd.1970130402
https://doi.org/10.1002/pd.1970130402
Autor:
I. T. Thomas, Lisa A. Teot, J. C. Veille, P. N. Rao, Rosa Hayworth, Mark J. Pettenati, C. Smith
Publikováno v:
American Journal of Medical Genetics. 45:365-369
We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,−11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee9c191c17eed7ee95d85b01feb5163
https://doi.org/10.1002/ajmg.1320450317
https://doi.org/10.1002/ajmg.1320450317
Autor:
Kim R. Geisinger, Kim A. Collins, Patrick E. Lantz, Rosa Hayworth-Hodge, Mark J. Pettenati, P. Nagesh Rao, Martha P. Tap, Sheryl Schnell, Linn H. Parsons
Publikováno v:
American journal of clinical pathology. 104(1)
In a prospective blinded controlled study, the efficacy of fluorescence in situ hybridization (FISH) to detect non-sperm male cells verifying sexual contact was examined. Cervicovaginal smears (CVS) from 40 women with reported post-coital intervals w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::636ef4644618f9608d72d159e2f70a16
https://pubmed.ncbi.nlm.nih.gov/7611178
https://pubmed.ncbi.nlm.nih.gov/7611178
Autor:
P. N. Rao, Timothy D. Howard, Mark J. Pettenati, M.D. Krawchuk, Donald W. Bowden, Rosa Hayworth, E.J. Weaver, Cynthia B. Rothschild, Robert G. Knowlton, B. J. Wagner
Publikováno v:
Genomics. 25(2)
The genomic structure of the D20S16 locus has been evaluated using genetic and physical methods. D20S16, originally detected with the probe CRI-L1214, is a highly informative, complex restriction fragment length polymorphism consisting of two separat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eaae8dda4eb52f66a8538bdedf150de
https://pubmed.ncbi.nlm.nih.gov/7789973
https://pubmed.ncbi.nlm.nih.gov/7789973
Publikováno v:
Human Genetics. 94
We describe a male infant with severe mental retardation and autism with a duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae138a8b19f943d9685a9a471d07782
https://doi.org/10.1007/bf00202860
https://doi.org/10.1007/bf00202860
Autor:
Nagesh Rao, Richard A. Anderson, Rosa Hayworth, Donald W. Bowden, Robert S. Byrum, Mark J. Pettenati, Cynthia B. Rothschild
Publikováno v:
Genomics. 15(1)
Human acid lipase/cholesteryl esterase (EC 3.1.1.13) is a 46-kDa glycoprotein required for the lysosomal hydrolysis of cholesteryl esters and triglycerides that cells acquire through the receptor-mediated endocytosis of low-density lipoproteins. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b862586e025d9eaf12f4de53445b99a4
https://pubmed.ncbi.nlm.nih.gov/8432549
https://pubmed.ncbi.nlm.nih.gov/8432549
Publikováno v:
Genomics. 14(2)
A panel of somatic cell hybrid cell lines containing different parts of human chromosome 20 and fluorescence in situ hybridization have been used to physically localize markers to human chromosome 20. Through these complementary approaches and geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48d061edfa0ba415c928aa23440c167
https://pubmed.ncbi.nlm.nih.gov/1427875
https://pubmed.ncbi.nlm.nih.gov/1427875
Autor:
I. T. Thomas, Nagesh Rao, Christine A. Johnson, Olson Huff, Mark J. Pettenati, Kerry Crandall, Rosa Hayworth
Publikováno v:
Human genetics. 89(6)
We report a family in which three members presented with minimal phenotypic abnormalities, normal intelligence to mild mental retardation, and a cytogenetically terminal chromosome deletion at band 8p23.1 Whole chromosomal painting with a chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc33dd43b11de4fd6de77f6a50d08f9
https://pubmed.ncbi.nlm.nih.gov/1511976
https://pubmed.ncbi.nlm.nih.gov/1511976
Publikováno v:
Prenatal Diagnosis; Apr1993, Vol. 13 Issue 4, p233-238, 6p