Zobrazeno 1 - 10 of 27 pro vyhledávání: '"Hoffer, M.J.V."'
1
Akademický článek
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study
Autor: Sistermans, E.A., Henneman, L., Polstra, A., Voorhoeve, E., Zelderen-Bohla, S.L., Boon, E.M.J., Lombardi, M.P.R., Louwerens-Zintel, C., Smit, M., van Maarle, M.C., Tan-Sindhunata, M.B., van der Meij, K., Meij, H., Bax, C., Pajkrt, E., Linskens, I.H., Martin, L., Gitsels-van der Wal, J.T., Galjaard, R.J.H., Van Opstal, D., Srebniak, M.I., Jehee, F.M. Sarquis, Hollink, I.H.I.M., Sleutels, F., de Valk, W., Deelen, W.H., Joosten, A.M.S., Diderich, K.E.M., Redeker, M.E., Go, A.T.J.I., Knapen, M.F.C.M., Galjaard, S., Prinsen, A.K.E., Braat, A.P.G., Macville, M.V.E., Stevens, S.J.C., van der Wijngaard, A., Houben, L.H., van Esch-Lennarts, M.A.A., Hamers, L., Jetten, A.G.P., Ghesquiere, S.A.I., Koning, B. de, ZamaniEsteki, M., Heesterbeek, C.J., de Die-Smulders, C.E.M., Brunner, H., Pieters, M.J., Coumans, A.B.C., Smeets, D.F.C.M., Faas, B.H.W., Westra, D., Weiss, M.M., Derks-Prinsen, I., Feenstra, I., van Rij, M., Sikkel, E., Hoffer, M.J.V., Hollander, N.S. den, Verweij, E.J.T., Haak, M.C., Suijkerbuijk, R.F., Sikkema-Raddatz, B., van Langen, I.M., Bouman, K., Duin, L.K., Schuring-Blom, G.H., Lichtenbelt, K.D., Bekker, M.N., van der Ven, A.J.E.M., van Vliet-Lachotzki, E., Pot, J., van ‘t Padje, S., Bakker, I.M.C., Bradley, E.J., Heesterbeek, Catharina J., Tjan-Heijnen, Vivianne C.G., Heimovaara, Joosje H., Lenaerts, Liesbeth, Lok, Christianne, Vriens, Ingeborg J.H., Van Opstal, Diane, Boon, Elles M.J., Sie, Daoud, de Die-Smulders, Christine E.M., Amant, Frédéric, Macville, Merryn V.E.
Publikováno v: In The Lancet Regional Health - Europe October 2024 45
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2
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing
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
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
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3
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study
Autor: Heesterbeek, C.J., Aukema, S.M., Galjaard, R.J.H., Boon, E.M.J., Srebniak, M.I., Bouman, K., Faas, B.H.W., Govaerts, L.C.P., Hoffer, M.J.V., Hollander, N.S. den, Lichtenbelt, K.D., Maarle, M.C. van, Schuurman, L.V., Rij, M.C. van, Schuring-Blom, G.H., Stevens, S.J.C., Tan-Sindhunata, G., Esteki, M.Z., Die-Smulders, C.E.M. de, Tjan-Heijnen, V.C.G., Henneman, L., Sistermans, E.A., Macville, M.V.E., Dutch NIPT Consortium
Publikováno v: Journal of Clinical Oncology, 40(22), 2426-2435. American Society of Clinical Oncology
Journal of Clinical Oncology, 40(22), 2426-+. LIPPINCOTT WILLIAMS & WILKINS
American Journal of Clinical Oncology, 40, 22, pp. 2426-2435
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 40(22), 2426-2435. AMER SOC CLINICAL ONCOLOGY
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 40(22):JCO.21.02260, 2426-2435. American Society of Clinical Oncology
American Journal of Clinical Oncology, 40, 2426-2435
Dutch NIPT Consortium 2022, ' Noninvasive Prenatal Test Results Indicative of Maternal Malignancies : A Nationwide Genetic and Clinical Follow-Up Study ', Journal of clinical oncology : official journal of the American Society of Clinical Oncology, vol. 40, no. 22, JCO.21.02260, pp. 2426-2435 . https://doi.org/10.1200/JCO.21.02260
PURPOSE: Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for cancer. Diagnostic routing after malignancy suspicious–NIPT faces many challenges. Her
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d4349da5d1dbf6ac78c3083e52eab3
https://hdl.handle.net/1887/3561453
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4
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Autor: Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium
Publikováno v: American Journal of Human Genetics, 108, 1138-1150
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Am J Hum Genet
American Journal of Human Genetics, 108(6), 1138-1150. Cell Press
American Journal of Human Genetics, 108(6), 1138-1150. CELL PRESS
ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1
https://doi.org/10.1016/j.ajhg.2021.04.007
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5
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1
Autor: Koene, S., Knijnenburg, J., Hoffer, M.J.V., Zwanenburg, F., Haak, M.C., Locher, H., Beelen, E.S.A. van, Santen, G.W.E., Rotteveel, L.J.C.
Publikováno v: The American Journal of Medical Genetics-Part A, 188A, 1578-1582. WILEY
Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544b759c8c85854b9d3fd600a4f8cd29
https://hdl.handle.net/1887/3515768
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6
TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
Autor: Meij, K.R.M. van der, Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M.J., Boter, M., Diderich, K.E.M., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, Oepkes, D., Pieters, M.J., Schuring-Blom, G.H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D.F.C.M., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium
Publikováno v: American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESS
American Journal of Human Genetics, 105, 6, pp. 1091-1101
American journal of human genetics, 105(6), 1091-1101. Cell Press
American Journal of Human Genetics, 105, 1091-1101
Am J Hum Genet
American Journal of Human Genetics, 105(6), 1091. Cell Press
American Journal of Human Genetics, 105(6), 1091-1101. Cell Press
van der Meij, K R M, Sistermans, E A, Macville, M V E, Stevens, S J C, Bax, C J, Bekker, M N, Bilardo, C M, Boon, E M J, Boter, M, Diderich, K E M, de Die-Smulders, C E M, Duin, L K, Faas, B H W, Feenstra, I, Haak, M C, Hoffer, M J V, den Hollander, N S, Hollink, I H I M, Jehee, F S, Knapen, M F C M, Kooper, A J A, van Langen, I M, Lichtenbelt, K D, Linskens, I H, van Maarle, M C, Oepkes, D, Pieters, M J, Schuring-Blom, G H, Sikkel, E, Sikkema-Raddatz, B, Smeets, D F C M, Srebniak, M I, Suijkerbuijk, R F, Tan-Sindhunata, G M, van der Ven, A J E M, van Zelderen-Bhola, S L, Henneman, L, Galjaard, R J H, Van Opstal, D, Weiss, M M & The Dutch NIPT Consortium 2019, ' TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands ', American journal of human genetics, vol. 105, no. 6, pp. 1091-1101 . https://doi.org/10.1016/j.ajhg.2019.10.005
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45f1a4d1a35934f9843790dea681e84
https://research.rug.nl/en/publications/d271c078-0838-49e9-b013-1c599c10dfd3
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7
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
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
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
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10
Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands
Autor: Graaf, G. de, Engelen, J.J.M., Gijsbers, A.C.J., Hochstenbach, R., Hoffer, M.J.V., Kooper, A.J.A., Sikkema-Raddatz, B., Srebniak, M.I., Kevie-Kersemaekers, A.M.F. van der, Zutven, L.J.C.M. van, Voorhoeve, E.
Publikováno v: Journal of Intellectual Disability Research, 61, 461-470
Journal of Intellectual Disability Research, 61(5), 461-470. Wiley-Blackwell
Journal of Intellectual Disability Research, 61(5), 461-470
de Graaf, G, Engelen, J J M, Gijsbers, A C J, Hochstenbach, R, Hoffer, M J V, Kooper, A J A, Sikkema-Raddatz, B, Srebniak, M I, van der Kevie-Kersemaekers, A M F, van Zutven, L J C M & Voorhoeve, E 2017, ' Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands ', Journal of Intellectual Disability Research, vol. 61, no. 5, pp. 461-470 . https://doi.org/10.1111/jir.12371
Journal of Intellectual Disability Research, 61, 5, pp. 461-470
Journal of intellectual disability research, 61(5), 461-470. Wiley-Blackwell
Journal of Intellectual Disability Research, 61(5), 461. Wiley-Blackwell
Journal of Intellectual Disability Research, 61(5), 461-470. Wiley
Background: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2f1dc78011356279fa0ff9cf85a56157
http://hdl.handle.net/2066/174737
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