Zobrazeno 1 - 10
of 367
pro vyhledávání: '"Tharapel, A."'
Autor:
Rodriguez-Barradas, Maria C., Tharapel, Reena A., Groover, Jean E., Giron, Karen P., Lacke, Christine E., Houston, Eric D., Hamill, Richard J., Steinhoff, Mark C., Musher, Daniel M.
Publikováno v:
The Journal of Infectious Diseases, 1997 Mar 01. 175(3), 590-597.
Externí odkaz:
https://www.jstor.org/stable/30130041
Publikováno v:
In Cancer Genetics and Cytogenetics 1999 108(2):100-106
Autor:
Tunca, Yusuf *, Wilroy, R.Sid, Kadandale, Jayarama S, Martens, Paula R, Gunther, Wendy M, Tharapel, Avirachan T
Publikováno v:
In Annales de genetique 2000 43(1):39-43
Publikováno v:
Cancer Genetics and Cytogenetics. 108:100-106
Primed in situ labeling (PRINS) is a rapidly developing new technology with wide ranging clinical applications. To assess the sensitivity, specificity, and accuracy of PRINS, we carried out a retrospective study on cultured bone marrow cells to detec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c68ae184acf289ad67cee680504f418
https://doi.org/10.1016/s0165-4608(98)00124-1
https://doi.org/10.1016/s0165-4608(98)00124-1
Autor:
Sugandhi A. Tharapel, GopalRao V. N. Velagelati, Lee P. Shulman, Owen P. Phillips, Avirachan T. Tharapel
Publikováno v:
American Journal of Obstetrics and Gynecology. 178:1313-1320
OBJECTIVE: Our purpose was to assess the feasibility of primed in situ labeling for analysis of prenatal diagnostic specimens. STUDY DESIGN: Prenatal diagnostic specimens were chosen at random for analysis without knowledge of clinical indication. Pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b938750256477499df0d7488906ff79
https://doi.org/10.1016/s0002-9378(98)70338-2
https://doi.org/10.1016/s0002-9378(98)70338-2
Publikováno v:
Clinical Genetics. 11:255-269
Six patients have been ascertained because of abnormal phenotypes but with apparently balanced de novo translocations. Five of them were mentally retarded with multiple congenital anomalies. The sixth patient had normal mental development but reveale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae20d8f1669a670081f15f16653cb04f
https://doi.org/10.1111/j.1399-0004.1977.tb01310.x
https://doi.org/10.1111/j.1399-0004.1977.tb01310.x
Publikováno v:
American Journal of Medical Genetics. 71:130-133
Primed in situ labeling (PRINS) is a relatively new technology with wide-ranging applications in clinical cytogenetics. Using PRINS, we have identified the chromosomal origin of marker chromosomes in three patients. In the first patient with primary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08fc46b2f8acd5c7073fcfecf05d70f4
https://doi.org/10.1002/(sici)1096-8628(19970808)71:2<130::aid-ajmg2>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970808)71:2<130::aid-ajmg2>3.0.co
Autor:
Anil Potti, Mark C. Ingebretson, M.V. Dayton, Michael Goodell, Sugandhi A. Tharapel, Amit Panwalkar, Syed Mehdi
Publikováno v:
Cancer Genetics and Cytogenetics. 144:76-79
The translocation between chromosomes 2 and 8, t(2;8), is well known for its strong association with high-grade Burkitt lymphoma. However, the significance of this translocation in indolent lymphoproliferative disorders is not clear. We present the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92054729bbd60728bf9c981bfd2a9e5
https://doi.org/10.1016/s0165-4608(02)00931-7
https://doi.org/10.1016/s0165-4608(02)00931-7
Publikováno v:
American Journal of Medical Genetics. 107:123-126
Rearrangements involving the 13q14 and 17p13 chromosomal regions are often observed in leukemias and lymphomas. These rearrangements are not always identifiable cytogenetically. In more than 50% of cases, deletions occur at the submicroscopic level a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567cdeb398bcef3711170a7eb9067bf0
https://doi.org/10.1002/ajmg.10105
https://doi.org/10.1002/ajmg.10105
Autor:
Paula R. Martens, Jayarama S. Kadandale, Wendy M Gunther, R. Sid Wilroy, Yusuf Tunca, Avirachan T. Tharapel
Publikováno v:
Annales de Génétique. 43:39-43
We describe a female infant with multiple congenital anomalies including unusual hyperpigmentation, tetralogy of Fallot, absent corpus callosum and wide prominent nasal bridge. The infant was initially seen for genetic consultation on day one after b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20acb2c6c7f02bb8189da44c12dd3ce
https://doi.org/10.1016/s0003-3995(00)00012-5
https://doi.org/10.1016/s0003-3995(00)00012-5