Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Elaine Jack"'
Autor:
Charlotte Paterson, Elaine Jack, Brian McKinstry, Sonia Whyte, Fiona C. Denison, Helen Cheyne
Publikováno v:
PLoS ONE, Vol 18, Iss 3 (2023)
In March 2020, the World Health Organisation named the severe acute respiratory syndrome coronavirus 2 (Sars-CoV-2), which causes corona virus disease 2019 (COVID –19), as a pandemic. Pregnant women were considered at increased risk of developing s
Externí odkaz:
https://doaj.org/article/f982964602b742d6844ade03bc05dcd7
Publikováno v:
Synapse. 61:303-309
It is known that RGS9-2 gene knockout mice show supersensitivity to DA and have a marked elevation in the proportion of DA D2 receptors in the high-affinity state for DA (D2(High) receptors). As this is a similar profile to that observed in the CNS f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f41f34b3081be084a94afedc0d5d3d6
https://doi.org/10.1002/syn.20368
https://doi.org/10.1002/syn.20368
Autor:
Elaine Jack, Song Li, Elaine Kwan, Jennifer Aube, Danielle Hanna, Cindy Morgan, Catherine M. Phelan, Steven A. Narod
Publikováno v:
Human Mutation. 20:352-357
The 185delAG and 5382insC founder mutations account for the majority of mutations identified in BRCA1 in Ashkenazi Jewish breast and breast–ovarian cancer families. Few non-founder BRCA1 mutations have been identified to date in these families. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf877862187cd185aaa206d7c32d5ff3
https://doi.org/10.1002/humu.10123
https://doi.org/10.1002/humu.10123
Publikováno v:
Genetic testing. 10(1)
Screening for mutations in the BRCA1 gene is challenging because of the wide spectrum of mutations found in this large gene. As the extensive exon 11 is commonly screened by the protein truncation test (PTT), here a fluorescent multiplex denaturing g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff17cc917902325a2918fc6776514114
https://pubmed.ncbi.nlm.nih.gov/16544996
https://pubmed.ncbi.nlm.nih.gov/16544996
Autor:
Catherine M, Phelan, Elaine, Kwan, Elaine, Jack, Song, Li, Cindy, Morgan, Jennifer, Aubé, Danielle, Hanna, Steven A, Narod
Publikováno v:
Human mutation. 20(5)
The 185delAG and 5382insC founder mutations account for the majority of mutations identified in BRCA1 in Ashkenazi Jewish breast and breast-ovarian cancer families. Few non-founder BRCA1 mutations have been identified to date in these families. We in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::40817f8e7253b77e9080d5c6154c2ae8
https://pubmed.ncbi.nlm.nih.gov/12402332
https://pubmed.ncbi.nlm.nih.gov/12402332
Publikováno v:
Human mutation. 19(4)
Germline mutations in the BRCA1 (MIM 113705) and BRCA2 (MIM 600185) genes have been identified for breast and ovarian cancer families of diverse ethnic backgrounds. To date, there have been no reports of Native North American families with mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d968eed58e539aa15771b2988f62bc4b
https://pubmed.ncbi.nlm.nih.gov/11933205
https://pubmed.ncbi.nlm.nih.gov/11933205
Autor:
Elaine Kwan, Linda A. Bradley, Steven A. Narod, Harvey A. Risch, Isabel Fan, John R. McLaughlin, David E. C. Cole, Danny Vesprini, Elaine Jack, Barry P. Rosen, Betty Y.L. Wong, John L.A. Abrahamson, Graciela Kuperstein
Publikováno v:
American journal of human genetics. 68(3)
A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in Ontario, Canada, during 1995–96 was screened for germline mutations in BRCA1 and BRCA2. We specifically tested for 11 of the most commonly reported mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050bb0bf4a43389f1d095b7b26ffe07c
https://pubmed.ncbi.nlm.nih.gov/11179017
https://pubmed.ncbi.nlm.nih.gov/11179017
Autor:
Catherine M. Phelan, Donna Russo, Roxana Moslehi, Karen H. Antman, Steven A. Narod, Elaine Jack
Publikováno v:
Clinical genetics. 57(1)
Currently many centers offer testing for three specific mutations, 185delAG, 5382insC, and 6174delT, in the BRCA1 and BRCA2 genes to Ashkenazi Jewish individuals at high risk for breast and ovarian cancer. We recently tested members of a family with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4adf5775db1a537d012782de41da85f3
https://pubmed.ncbi.nlm.nih.gov/10733239
https://pubmed.ncbi.nlm.nih.gov/10733239
Publikováno v:
General and comparative endocrinology. 94(3)
Four monoclonal antibodies (MA-5, MA-10, MA-20, and MA-51) and one polyclonal antibody (ARS-2) against human insulin receptor were used to immunoprecipitate the insulin receptor from several species which had been photolabeled with N epsilon B29-mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d76a85334338b63491ed619f452d73
https://pubmed.ncbi.nlm.nih.gov/7523240
https://pubmed.ncbi.nlm.nih.gov/7523240
Autor:
Steven A. Narod, Patricia de los Rios, Henry T. Lynch, Jan Lubinski, Graciela Kuperstein, Elaine Jack
Publikováno v:
The American Journal of Human Genetics. 68:546
To the Editor: We have recently identified five founder mutations in a panel of 66 families with breast/ovarian cancer who were ascertained in western Poland (Gorski et al. 2000). Of the 35 families with mutations, 33 had one of the five recurrent BR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8de2dafee46a0bfb68b4b83b8b888b
https://doi.org/10.1086/318211
https://doi.org/10.1086/318211