Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Marilyn Genovese"'
Publikováno v:
Scanning. 28:228-232
Recently, we have reported new basic information on the ultrastructure of human metaphase chromosomes using both scanning and transmission electron microscopy. This includes the observation of a bipartite chromatid structure (BCS) for some metaphase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ad0b86dca3467e8db10be3b46a6d6f
https://doi.org/10.1002/sca.4950280405
https://doi.org/10.1002/sca.4950280405
Publikováno v:
Scanning. 25:316-320
A brush-like border apparently composed of fibers protruding from metaphase chromosomes of human lymphocytes was observed for the first time using transmission (TEM) and scanning electron microscopy (SEM). On the basis of size and sensitivity to colc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f4a2bbebbc8c6919aae3e8983cd37ee
https://doi.org/10.1002/sca.4950250608
https://doi.org/10.1002/sca.4950250608
Autor:
W. Ted Brown, Edmund C. Jenkins, Guang Y. Wen, Marilyn Genovese, Erick M. Goldberg, Henryk M. Wisniewski
Publikováno v:
American Journal of Medical Genetics. 83:334-337
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a0021a42750c5d84ab7c5ec436c95ed
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<334::aid-ajmg22>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<334::aid-ajmg22>3.0.co
Autor:
Edmund C. Jenkins, Hong Gu, Susan Sklower Brooks, Charlotte J. Duncan, Alan L. Shanske, Marilyn Genovese
Publikováno v:
American Journal of Medical Genetics. 78:114-117
Duplication 8p usually results in a syndrome characterized by profound mental retardation, mild facial anomalies, and malformations of hand, heart, and brain. We report on a large kindred segregating a Y;8 translocation in whom several individuals ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc0799a2cebc83d6163678bfb5437202
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>3.0.co
Autor:
D. Devenny, B. Canto, Edmund C. Jenkins, Nicole Schupf, Marilyn Genovese, D. Kapell, Ling Ling Ye, W. T. Brown, M. Harris, Joseph H. Lee
Publikováno v:
American Journal of Medical Genetics. 68:147-151
During a study of the familial aggregation of Down syndrome (DS) and Alzheimer disease (AD), we observed an increase in mosaicism for disomy 21 in older individuals with DS. In a total of 213 DS subjects who were studied cytogenetically, only 1 of 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5357aa01b431e42f36de957011cc1fcb
https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<147::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<147::aid-ajmg5>3.0.co
Autor:
Sandra L. Stark‐Houck, Marilyn Genovese, Edmund C. Jenkins, W. Ted Brown, Carl Dobkin, Mary Carter, Iwana Morys, Xiaohua Ding, Jeanine Henderson, George E. Houck, Shuyun Li
Publikováno v:
American Journal of Medical Genetics. 51:436-442
Low fragile X frequencies have been commonly observed in chorionic villus sample (CVS) cultures, compared to subsequent analysis in whole blood or products of conception (POC). To investigate possible mechanisms for this effect, CVS cultures from a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451d97d1fa94797b42e686afeec85606
https://doi.org/10.1002/ajmg.1320510426
https://doi.org/10.1002/ajmg.1320510426
Publikováno v:
American Journal of Medical Genetics. 43:155-160
Short-term whole blood cultures from 9 unrelated male individuals with the fragile X [fra(X)] syndrome were exposed to 5-fluorodeoxyuridine (FUdR). The fra(X) frequency was higher in 8 of 9 cases where the complete medium contained dialyzed fetal bov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209cc30a3a33b247594f68ece4e16ca1
https://doi.org/10.1002/ajmg.1320430124
https://doi.org/10.1002/ajmg.1320430124
Autor:
Shu-Yun Li, Michael S. Krawczun, Kusum P. Lele, Sandra L. Stark‐Houck, Hong Gu, Edmund C. Jenkins, Charlotte J. Duncan, Marilyn Genovese
Publikováno v:
American Journal of Medical Genetics. 43:136-141
Cell cultures from 760 whole blood, amniotic fluid, chorionic villus sample, and peripheral umbilical blood sample specimens were exposed to multiple fra(X)(q27.3) induction systems (none had aphidicolin). Fifty-three exhibited the rare fragile site,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8358f533697b0f5227770738f4ab6ee3
https://doi.org/10.1002/ajmg.1320430121
https://doi.org/10.1002/ajmg.1320430121
Autor:
Edmund C. Jenkins, Henryk M. Wisniewski, Erick M. Goldberg, W. Ted Brown, Guang Y. Wen, Marilyn Genovese
Publikováno v:
American Journal of Medical Genetics. 83:331-333
Using a nonair-drying modification of a method for longitudinal sectioning of metaphase spreads on glass slides [Wen et al., 1997], we have studied 14 preidentified X chromosomes (10 from fragile X specimens and 4 controls) with transmission electron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34324dd42ac3f6a333724c9281b01fc8
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<331::aid-ajmg21>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<331::aid-ajmg21>3.0.co
Autor:
Michael S. Krawczun, Carol Schwartz-Richstein, Maureen M. Sanz, Hong Gu, Mary Lee Salandi, Charlotte J. Duncan, Kusum P. Lele, Edmund C. Jenkins, Marilyn Genovese
Publikováno v:
Pathobiology. 58:236-240
We have been attempting to develop a consistently reliable internal control to assure the effectiveness of the 5-fluorodeoxyuridine (FUdR) fragile-X [fra(X)] induction system. We carried out a systematic study of whole-blood specimens cultured from 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbda8f16e957396a9edc64971b2631e
https://doi.org/10.1159/000163591
https://doi.org/10.1159/000163591