Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Schuring-Blom H"'
Autor:
Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium
Publikováno v:
American journal of human genetics, 109(6), 1140-1152. Cell Press
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. CELL PRESS
American Journal of Human Genetics, 109, 6, pp. 1140-1152
American Journal of Human Genetics, 109(6), 1140-1152. Cell Press
Dutch NIPT Consortium 2022, ' Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing : Follow-up results of the TRIDENT-2 study ', American journal of human genetics, vol. 109, no. 6, pp. 1140-1152 . https://doi.org/10.1016/j.ajhg.2022.04.018
American Journal of Human Genetics, 109(7). Cell Press
American Journal of Human Genetics, 109, 1140-1152
Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f185a21074eaaeaf5f9da3fa138556
https://doi.org/10.1016/j.ajhg.2022.04.018
https://doi.org/10.1016/j.ajhg.2022.04.018
Autor:
Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium
Publikováno v:
Genetics in Medicine, 20, 480-485
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9f4b55db7b9010c8cbd85795a63ee1
https://doi.org/10.1038/gim.2017.132
https://doi.org/10.1038/gim.2017.132
Autor:
Schuring-Blom, H., Lichtenbelt, K.D., van Galen, K., Elferink, M., Weiss, M., Vermeesch, J.R., Page-Christiaens, G. C. (Lieve)
Publikováno v:
Prenatal Diagnosis, 36, 790-793. John Wiley and Sons Ltd
Schuring-Blom, H, Lichtenbelt, K D, van Galen, K, Elferink, M, Weiss, M, Vermeesch, J R & Page-Christiaens, G C 2016, ' Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy : Prenatal Diagnosis ', Prenatal Diagnosis, vol. 36, pp. 790-793 . https://doi.org/10.1002/pd.4863
Schuring-Blom, H, Lichtenbelt, K D, van Galen, K, Elferink, M, Weiss, M, Vermeesch, J R & Page-Christiaens, G C 2016, ' Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy : Prenatal Diagnosis ', Prenatal Diagnosis, vol. 36, pp. 790-793 . https://doi.org/10.1002/pd.4863
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1af6d7180a49cd2f43a0ae77e10a2c8
https://research.vumc.nl/en/publications/baec1b59-f030-48ef-af0d-c245fbaecfab
https://research.vumc.nl/en/publications/baec1b59-f030-48ef-af0d-c245fbaecfab
Autor:
Christiaens, C., Galjaard, R.J., Henneman, L., Oepkes, D., Schuring-Blom, H., Sistermans, E.A.
Publikováno v:
Christiaens, C, Galjaard, R J, Henneman, L, Oepkes, D, Schuring-Blom, H & Sistermans, E A 2014, ' Introducing noninvasive prenatal testing (NIPT) for fetal aneuploidy in the Netherlands. ', Prenatal perspectives, vol. 2, no. 1, pp. 9-10 . < http://ispdhome.org/public/news/2014/ISPD_NL_Vol2_1_feb14.pdf >
Prenatal perspectives, 2(1), 9-10
Prenatal perspectives, 2(1), 9-10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::85a2945770bc9c4bde6ba4b06217f425
https://research.vumc.nl/en/publications/a7160c14-349d-414d-8ef8-97274560b841
https://research.vumc.nl/en/publications/a7160c14-349d-414d-8ef8-97274560b841
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Akademický článek
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Autor:
Bhola Shama L, Creemers Johan, Go Attie, Hoffer Mariëtte VJ, Huijsdens Karin, Kooper Angelique JA, Macville Merryn VE, Nijhuis Jan G, van Oppen Carla AC, Oepkes Dick, Schuring-Blom Heleen G, Wildschut Hajo I, Birnie Erwin, Boormans Elisabeth MA, Bilardo Katia M, Suijkerbuijk Ron, Bouman Katelijne, Galjaard Robert-Jan H, Bonsel Gouke J, van Lith Jan MM
Publikováno v:
BMC Pregnancy and Childbirth, Vol 8, Iss 1, p 18 (2008)
Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT) has a high accuracy and reliability. However, it is labor intensive, the results
Externí odkaz:
https://doaj.org/article/80c9712e3c424858b9c6b80a54bc59f0