Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kim C. A. Holtkamp"'
Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation
Autor:
Lidewij Henneman, Hanne Meijers-Heijboer, Martina C. Cornel, Phillis Lakeman, Johan J.P. Gille, Kim C. A. Holtkamp
Publikováno v:
Journal of Community Genetics
Journal of Community Genetics, 10(2), 249-257. Springer Verlag
Holtkamp, K C A, Henneman, L, Gille, J J P, Meijers-Heijboer, H, Cornel, M C & Lakeman, P 2019, ' Direct-to-consumer carrier screening for cystic fibrosis via a hospital website : a 6-year evaluation ', Journal of Community Genetics, vol. 10, no. 2, pp. 249-257 . https://doi.org/10.1007/s12687-018-0388-y
Journal of community genetics, 10(2), 249-257. Springer Verlag
Journal of Community Genetics, 10(2), 249-257. Springer Verlag
Holtkamp, K C A, Henneman, L, Gille, J J P, Meijers-Heijboer, H, Cornel, M C & Lakeman, P 2019, ' Direct-to-consumer carrier screening for cystic fibrosis via a hospital website : a 6-year evaluation ', Journal of Community Genetics, vol. 10, no. 2, pp. 249-257 . https://doi.org/10.1007/s12687-018-0388-y
Journal of community genetics, 10(2), 249-257. Springer Verlag
A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. How
Publikováno v:
European Journal of Human Genetics, 25(1), 17-21. Nature Publishing Group
Van Der Hout, S, Holtkamp, K C, Henneman, L, de Wert, G & Dondorp, W J 2016, ' Advantages of expanded universal carrier screening : What is at stake? ', European Journal of Human Genetics, vol. 25, no. 1, pp. 17-21 . https://doi.org/10.1038/ejhg.2016.125
Van Der Hout, S, Holtkamp, K C, Henneman, L, de Wert, G & Dondorp, W J 2016, ' Advantages of expanded universal carrier screening : What is at stake? ', European Journal of Human Genetics, vol. 25, no. 1, pp. 17-21 . https://doi.org/10.1038/ejhg.2016.125
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-et
Autor:
Maria J E Schouten, Phillis Lakeman, Kim C. A. Holtkamp, Wybo Dondorp, Lidewij Henneman, Merel C. van Maarle
Publikováno v:
European Journal of Human Genetics, 24(2), 171-177. Nature Publishing Group
Holtkamp, K C A, van Maarle, M C, Schouten, M J E, Dondorp, W J, Lakeman, P & Henneman, L 2016, ' Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? ', European Journal of Human Genetics, vol. 24, no. 2, pp. 171-177 . https://doi.org/10.1038/ejhg.2015.97
European Journal of Human Genetics
European journal of human genetics, 24(2), 171-177. Nature Publishing Group
Holtkamp, K C A, van Maarle, M C, Schouten, M J E, Dondorp, W J, Lakeman, P & Henneman, L 2016, ' Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? ', European Journal of Human Genetics, vol. 24, no. 2, pp. 171-177 . https://doi.org/10.1038/ejhg.2015.97
European Journal of Human Genetics
European journal of human genetics, 24(2), 171-177. Nature Publishing Group
Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases
Autor:
Martina C. Cornel, Hind Hader, Maria Hoenderdos, Marjolein Peters, Henna A. M. Playfair, Phillis Lakeman, Kim C. A. Holtkamp, Suze M. J. P. Jans, Lidewij Henneman
Publikováno v:
Journal of Genetic Counseling, 27(3), 635-646. Kluwer Academic/Human Sciences Press Inc.
Journal of genetic counseling, 27(3), 635-646. Kluwer Academic/Human Sciences Press Inc.
Holtkamp, K C A, Lakeman, P, Hader, H, Jans, S M J P, Hoenderdos, M, Playfair, H A M, Cornel, M C, Peters, M & Henneman, L 2018, ' Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study ', Journal of Genetic Counseling, vol. 27, no. 3, pp. 635-646 . https://doi.org/10.1007/s10897-017-0159-7
Journal of Genetic Counseling
Journal of genetic counseling, 27(3), 635-646. Kluwer Academic/Human Sciences Press Inc.
Holtkamp, K C A, Lakeman, P, Hader, H, Jans, S M J P, Hoenderdos, M, Playfair, H A M, Cornel, M C, Peters, M & Henneman, L 2018, ' Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study ', Journal of Genetic Counseling, vol. 27, no. 3, pp. 635-646 . https://doi.org/10.1007/s10897-017-0159-7
Journal of Genetic Counseling
Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a859589a9e702ba639a726be312811b
https://research.vumc.nl/en/publications/221efb0e-8027-4c20-bd27-80723f2311a9
https://research.vumc.nl/en/publications/221efb0e-8027-4c20-bd27-80723f2311a9
Autor:
Hanne Meijers-Heijboer, Kim C. A. Holtkamp, Janneke M. C. van Eeten-Nijman, Inge B. Mathijssen, Phillis Lakeman, Merel C. van Maarle, Lidewij Henneman, Cecile P. E. Ottenheim
Publikováno v:
European journal of human genetics, 26(2), 166-175. Nature Publishing Group
Mathijssen, I B, Holtkamp, K C A, Ottenheim, C P E, van Eeten-Nijman, J M C, Lakeman, P, Meijers-Heijboer, H, van Maarle, M C & Henneman, L 2018, ' Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population ', European Journal of Human Genetics, vol. 26, no. 2, pp. 166-175 . https://doi.org/10.1038/s41431-017-0056-4
European Journal of Human Genetics, 26(2), 166-175. Nature Publishing Group
Mathijssen, I B, Holtkamp, K C A, Ottenheim, C P E, van Eeten-Nijman, J M C, Lakeman, P, Meijers-Heijboer, H, van Maarle, M C & Henneman, L 2018, ' Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population ', European Journal of Human Genetics, vol. 26, no. 2, pp. 166-175 . https://doi.org/10.1038/s41431-017-0056-4
European Journal of Human Genetics, 26(2), 166-175. Nature Publishing Group
Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6e82135f644397a62c33e2745bf53a
https://europepmc.org/articles/PMC5838981/
https://europepmc.org/articles/PMC5838981/
Autor:
Martina C. Cornel, Phillis Lakeman, Lidewij Henneman, Kim C. A. Holtkamp, Tessel Rigter, Evelien M. Vos
Publikováno v:
Holtkamp, K C A, Vos, E M, Rigter, T, Lakeman, P, Henneman, L & Cornel, M C 2017, ' Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape ', BMC Health Services Research, vol. 17, no. 1, 146 . https://doi.org/10.1186/s12913-017-2083-9
BMC health services research, 17(1). BioMed Central
BMC Health Services Research
BMC Health Services Research, 17(1):146. BioMed Central
BMC health services research, 17(1). BioMed Central
BMC Health Services Research
BMC Health Services Research, 17(1):146. BioMed Central
Background In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8216be410483bb9e483512ba38bd1a9
https://research.vumc.nl/en/publications/4563c825-7686-45f2-ac31-47c5aab5123c
https://research.vumc.nl/en/publications/4563c825-7686-45f2-ac31-47c5aab5123c