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pro vyhledávání: '"Cystic Fibrosis Carrier Screening"'
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Publikováno v:
Prenatal diagnosisREFERENCES. 41(11)
OBJECTIVE We investigated the cost-effectiveness of three sequential prenatal cystic fibrosis (CF) carrier screening strategies: genotyping both partners, genotyping one partner then sequencing the second, and sequencing both partners. METHOD A decis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2955bda6034a0fb35e2eeb3e34ba96f7
https://pubmed.ncbi.nlm.nih.gov/34346064
https://pubmed.ncbi.nlm.nih.gov/34346064
Autor:
Anneke Lucassen, Martina C. Cornel, Joël Zlotogora, Alison D Archibald, Nigel G. Laing, Fowzan S. Alkuraya, Lidewij Henneman, Adonis S. Ioannides, Wayne W. Grody, Martin B. Delatycki, John Massie, Irene M. van Langen, Meow-Keong Thong, Carlo Castellani, Juliette Schuurmans, Edwin P. Kirk
Publikováno v:
Delatycki, M B, Alkuraya, F, Archibald, A, Castellani, C, Cornel, M, Grody, W W, Henneman, L, Ioannides, A S, Kirk, E, Laing, N, Lucassen, A, Massie, J, Schuurmans, J, Thong, M-K, van Langen, I & Zlotogora, J 2020, ' International perspectives on the implementation of reproductive carrier screening ', Prenatal Diagnosis, vol. 40, no. 3, pp. 301-310 . https://doi.org/10.1002/pd.5611
Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing numbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e1cbf607fa0c822f21555afcf61e7b
https://hdl.handle.net/11370/c06815c2-448f-4f0a-b549-3344deef5ef9
https://hdl.handle.net/11370/c06815c2-448f-4f0a-b549-3344deef5ef9
Autor:
Anna Roberto, Paola Mosconi, Cinzia Colombo, Carlo Castellani, Maria Teresa Greco, Giulia Candiani, Roberto Satolli
Publikováno v:
European Journal of Public Health. 28:973-977
Background Health technology assessment and ethical issues have to be dealt with in deciding on national carrier screening for cystic fibrosis (CF)-the most frequent severe autosomal recessive disease in Caucasian populations and several stakeholders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681feaf46b0489e866a795da176fd0bb
https://doi.org/10.1093/eurpub/cky032
https://doi.org/10.1093/eurpub/cky032
Publikováno v:
Fertility and Sterility. 114:495-496
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef5d04841e806008d146b986af206fb
https://doi.org/10.1016/j.fertnstert.2020.06.005
https://doi.org/10.1016/j.fertnstert.2020.06.005
Autor:
Dale Muzzey, Kyle A. Beauchamp, James D. Goldberg, Lindsay Spurka, Jeraldine Lim-Harashima, Katherine Johansen Taber, Ashley Svenson, Peter V. Grauman
Publikováno v:
Genetics in Medicine
Purpose Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or women considering pregnancy. We assessed the performance of sequencing-based CF screening relative to genotyping, in te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c6b6288cd342ed1e2ab4fab1a0cb37
https://pubmed.ncbi.nlm.nih.gov/31089271
https://pubmed.ncbi.nlm.nih.gov/31089271
Publikováno v:
Health Expectations : An International Journal of Public Participation in Health Care and Health Policy
Context In recent years, the continuous improvements in molecular biology techniques have made it possible to detect carriers for several genetic conditions, including cystic fibrosis (CF). In some countries, CF carrier screening is offered to increa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1054658b71db71d62a101e2d69d9b0f
http://europepmc.org/articles/PMC5810749
http://europepmc.org/articles/PMC5810749
Publikováno v:
Journal of Cystic Fibrosis. 13:99-105
Background Attitudes of Australian CF healthcare professionals toward population-based cystic fibrosis (CF) carrier screening were examined. Method A purpose-designed questionnaire was distributed to 111 respiratory physicians and 30 CF clinic coordi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0059c0955ab07c16436e88542c4f3851
https://doi.org/10.1016/j.jcf.2013.06.009
https://doi.org/10.1016/j.jcf.2013.06.009
Autor:
Jeraldine Lim-Harashima, Lindsay Spurka, James D. Goldberg, Kyle A. Beauchamp, Peter V. Grauman, Katherine Johansen Taber, Dale Muzzey, Ashley Svenson
Publikováno v:
Genetics in Medicine. 21:2407-2408
The original version of this Article contained an error in Figure 3. Specifically, the result “3 (67%) TOP” should read “2 (67%) TOP.” This has now been corrected in both the PDF and HTML versions of the Article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01366dfb8a880fa3cc89fb56082e42a
https://doi.org/10.1038/s41436-019-0543-9
https://doi.org/10.1038/s41436-019-0543-9
The Application of Genetic Tests in an Assisted Reproduction Unit: Cystic Fibrosis Carrier Screening
Publikováno v:
A Practical Guide to Sperm Analysis ISBN: 9781315151632
A Practical Guide to Sperm Analysis
A Practical Guide to Sperm Analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d6b85a1914779a3548cad0eab78274
https://doi.org/10.4324/9781315151632-7
https://doi.org/10.4324/9781315151632-7
