Zobrazeno 1 - 7
of 7
pro vyhledávání: '"W S Meschino"'
Autor:
P Kaurah, L Velsher, Anand Govindarajan, W S Meschino, Zane Cohen, Ingrid Ambus, Kara Semotiuk, C Forster-Gibson, Melyssa Aronson, Raymond H. Kim, A Blumenthal, Carol J. Swallow, K Buckley, Savtaj S. Brar
Publikováno v:
Curr Oncol
Current Oncology
Volume 27
Issue 2
Pages 5663-190
Current Oncology
Volume 27
Issue 2
Pages 5663-190
CDH1 pathogenic variants (pvs) cause most cases of inherited diffuse gastric cancer (dgc), but have low detection rates and vary geographically. In the present study, we examined hereditary causes of dgc in patients in Ontario. CDH1 testing through s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492f039a66d02be8f919e1ea87bfc356
https://doi.org/10.3747/co.27.5663
https://doi.org/10.3747/co.27.5663
Publikováno v:
Clinical genetics. 93(2)
There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent feature is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f636ea06dad906d85fab39e682e4eccf
https://pubmed.ncbi.nlm.nih.gov/28542865
https://pubmed.ncbi.nlm.nih.gov/28542865
Autor:
Christine Maugard, Marie E. Wood, Albert E. Chudley, G. Rennen, Wendy McKinnon, Parviz Ghadirian, Jan Klijn, Siranoush Manoukian, Steven A. Narod, Susan M. Domchek, Beth Y. Karlan, Kelly A. Metcalfe, W. S. Meschino, T Wagner, Ping Sun, Michael P. Osborne, Jacek Gronwald, Gordon B. Mills, M. Daly, Fergus J. Couch, Raluca N. Kurz, Nadine Tung, Howard M. Saal, Kevin Sweet, Sofia D. Merajver, B. Rosen, J. McLennan, Daphna Birenbaum-Carmeli, J. N. Weitzel, Shelly Cummings, Daniel Rayson, Eitan Friedman, Peter Ainsworth, Jan Lubinski, A. Eisen, Dominique Stoppa Lyonnet, David A. Fishman, Judy Garber, William D. Foulkes, Henry T. Lynch, Ruth Gershoni-Baruch, Dawna Gilchrist, Pål Møller, Charmaine Kim-Sing, J. M. Collee, Edmond G. Lemire
Publikováno v:
International Journal of Cancer, 122(9), 2017-2022. Wiley-Liss Inc.
Several options for cancer prevention are available for, women with a BRCA1 or BRCA2 mutation, including prophylactic surgery, chemoprevention and screening. The authors report on preventive practices in women with mutations from 9 countries and exam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64c3c76ecfcb3983d9bf94d41f23348
https://pure.eur.nl/en/publications/19351477-5a99-4f27-96f1-fe0a813ca377
https://pure.eur.nl/en/publications/19351477-5a99-4f27-96f1-fe0a813ca377
Autor:
Howard M. Saal, W. S. Meschino, T Wagner, Susan M. Domchek, Eitan Friedman, Susan Randall, Gad Rennert, Nadine Tung, D. Provencher, Joanne Kotsopoulos, Sofia D. Merajver, Albert E. Chudley, David A. Fishman, Andrea Eisen, Jeffrey N. Weitzel, Daniel Rayson, Boris Pasche, William D. Foulkes, Claudine Isaacs, Henry T. Lynch, Barbara Pasini, Fergus J. Couch, Peter Ainsworth, Susan L. Neuhausen, Mary B. Daly, Charmaine Kim-Sing, Håkan Olsson, Wendy McKinnon, Parviz Ghadirian, Judy Garber, Gareth Evans, J. McLennan, Kenneth Offit, Beth Y. Karlan, Jan Klijn, Jan Lubinski, Ping Sun, Michael P. Osborne, Edmond G. Lemire, Ruth Gershoni-Baruch, Pål Møller, Charis Eng, Steven A. Narod, C Bellati
Publikováno v:
Breast Cancer Research and Treatment, 105(2), 221-228. Springer New York
An early age at first full-term birth is associated with a reduction in the subsequent development of breast cancer among women in the general population. A similar effect has not yet been reported among women who carry an inherited BRCA1 or BRCA2 mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bedba5079be3ebb6cc026a2d678f8443
http://hdl.handle.net/2318/42311
http://hdl.handle.net/2318/42311
Publikováno v:
American journal of medical genetics. 103(4)
There is a consensus among medical geneticists that it is desirable to recontact patients as new information becomes available. Furthermore, some have suggested that there are legal arguments to support an obligation, creating a duty to recontact. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e9fdf2a4ed2bae06f67cc74acc3c9cdb
https://pubmed.ncbi.nlm.nih.gov/11746005
https://pubmed.ncbi.nlm.nih.gov/11746005
Autor:
K A, Phillips, E, Warner, W S, Meschino, J, Hunter, M, Abdolell, G, Glendon, I L, Andrulis, P J, Goodwin
Publikováno v:
Clinical genetics. 57(5)
The perceived benefits and risks of genetic testing may vary between groups of individuals with different cultural, demographic, and family history features. This multicentre study examined the factors that influenced the decision to undergo genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::36d7f2593597d0eeb0830baf028a1020
https://pubmed.ncbi.nlm.nih.gov/10852372
https://pubmed.ncbi.nlm.nih.gov/10852372
Publikováno v:
American journal of medical genetics. 78(2)
Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::603cca756a20a3b13aeb28038d755203
https://pubmed.ncbi.nlm.nih.gov/9674900
https://pubmed.ncbi.nlm.nih.gov/9674900