Zobrazeno 1 - 5
of 5
pro vyhledávání: '"C. H. Laundon"'
Autor:
P S, Ing, D L, Van Dyke, S P, Caudill, J A, Reidy, G, Bice, F R, Bieber, P D, Buchanan, A J, Carroll, S W, Cheung, G, DeWald, R P, Donahue, H A, Gardner, J, Higgins, L Y, Hsu, M, Jamehdor, E A, Keitges, C H, Laundon, F W, Luthardt, J, Mascarello, K M, May, J M, Meck, C, Morton, S, Patil, D, Peakman, M J, Pettenati, N, Rao, W G, Sanger, D F, Saxe, S, Schwartz, G S, Sekhon, G H, Vance, H E, Wyandt, C W, Yu, J, Zenger-Hain, A T, Chen
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 1(3)
To evaluate the assumptions on which the American College of Medical Genetics (ACMG) Standards and Guidelines for detecting mosaicism in amniotic fluid cultures are based.Data from 653 cases of amniotic fluid mosaicism were collected from 26 laborato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::431746c694bdf3d2b5c76074bf721faa
https://pubmed.ncbi.nlm.nih.gov/11336459
https://pubmed.ncbi.nlm.nih.gov/11336459
Autor:
Sugandhi A. Tharapel, K. E. Teague, C. H. Laundon, R. S. Wilroy, P. D. Buchanan, Gopalrao V.N. Velagaleti, Paula R. Martens, Avirachan T. Tharapel, Ron C. Michaelis
Publikováno v:
Cytogenetics and cell genetics. 85(3-4)
Duplications and deletions of the same gene loci or chromosome regions are known to produce different clinical manifestations and are significant factors in human morbidity and mortality. Extensive cytogenetic and molecular cytogenetic studies with c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec32c53e872ad758467172c295561b41
https://pubmed.ncbi.nlm.nih.gov/10449919
https://pubmed.ncbi.nlm.nih.gov/10449919
Publikováno v:
Prenatal diagnosis. 19(5)
A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar org
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f2b14d017d7b3e3ce656cc6feddc8ec5
https://pubmed.ncbi.nlm.nih.gov/10360520
https://pubmed.ncbi.nlm.nih.gov/10360520
Publikováno v:
Prenatal diagnosis. 16(9)
Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0505c9437c04159cd09a2c96ff770f37
https://pubmed.ncbi.nlm.nih.gov/8905900
https://pubmed.ncbi.nlm.nih.gov/8905900
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 43(2)
The major class of cells subcultured from human amniotic fluid retains properties of trophoblast. The objective of this study was to determine whether the multinucleate cells appearing in these cultures form by fusion, as is true for syncytiotrophobl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::938001d262748262298c2a3b07c05f8b
https://pubmed.ncbi.nlm.nih.gov/7401628
https://pubmed.ncbi.nlm.nih.gov/7401628