Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Leo P. ten Kate"'
Publikováno v:
Cousin Marriages ISBN: 9781782384939
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::397f510732b298152b1722da8c78ac03
https://doi.org/10.1515/9781782384939-013
https://doi.org/10.1515/9781782384939-013
Publikováno v:
Cousin Marriages ISBN: 9781782384939
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9caf34327f4aeb43903b09430ceacb9e
https://doi.org/10.1515/9781782384939-005
https://doi.org/10.1515/9781782384939-005
Autor:
Habiba Chaabouni-Bouhamed, Wided Kelmemi, Marieke Teeuw, Maher Kharrat, Leo P. ten Kate, Marianne A. Jonker
Publikováno v:
Human Heredity, 80(2), 69-78. S. Karger AG
Jonker, M A, Teeuw, M E, Kelmemi, W, Kharrat, M, Chaabouni-Bouhamed, H & ten Kate, L P 2015, ' Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity ', Human Heredity, vol. 80, no. 2, pp. 69-78 . https://doi.org/10.1159/000438862
Jonker, M A, Teeuw, M E, Kelmemi, W, Kharrat, M, Chaabouni-Bouhamed, H & ten Kate, L P 2015, ' Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity ', Human Heredity, vol. 80, no. 2, pp. 69-78 . https://doi.org/10.1159/000438862
Objective Estimating the total allele frequency of all pathogenic alleles of an autosomal recessive disease is not possible if only mutational data of a sample of affected individuals are available. However, if the affected individuals come from a po
Autor:
Inge B. Mathijssen, Leo P. ten Kate, Iris I.M. Kleiss, Merel C. van Maarle, Lidewij Henneman, Egbert J.W. Redeker, Hanne Meijers-Heijboer
Publikováno v:
Journal of community genetics, 8(4), 327-333. Springer Verlag
Mathijssen, I B, van Maarle, M C, Kleiss, I I M, Redeker, E J W, ten Kate, L P, Henneman, L & Meijers-Heijboer, H 2017, ' With expanded carrier screening, founder populations run the risk of being overlooked ', Journal of Community Genetics, vol. 8, no. 4, pp. 327-333 . https://doi.org/10.1007/s12687-017-0309-5
Journal of Community Genetics
Journal of Community Genetics, 8(4), 327-333. Springer Verlag
Mathijssen, I B, van Maarle, M C, Kleiss, I I M, Redeker, E J W, ten Kate, L P, Henneman, L & Meijers-Heijboer, H 2017, ' With expanded carrier screening, founder populations run the risk of being overlooked ', Journal of Community Genetics, vol. 8, no. 4, pp. 327-333 . https://doi.org/10.1007/s12687-017-0309-5
Journal of Community Genetics
Journal of Community Genetics, 8(4), 327-333. Springer Verlag
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acab189e7af2e163da80aadfef35d571
https://pure.amc.nl/en/publications/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked(9ed932e6-a5d6-41cb-8d1a-46f2b3909890).html
https://pure.amc.nl/en/publications/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked(9ed932e6-a5d6-41cb-8d1a-46f2b3909890).html
Autor:
Martina C. Cornel, Quinten Waisfisz, Petra J.G. Zwijnenburg, Marjan M. Weiss, Leo P. ten Kate, Marieke Teeuw, Erik A. Sistermans, Hanne Meijers-Heijboer, Lidewij Henneman
Publikováno v:
Teeuw, M E, Waisfisz, Q, Zwijnenburg, P J G, Sistermans, E A, Weiss, M M, Henneman, L, ten Kate, L P, Cornel, M C & Meijers-Heijboer, H 2014, ' First steps in exploring prospective exome sequencing of consanguineous couples ', European Journal of Medical Genetics, vol. 57, no. 11-12, pp. 613-616 . https://doi.org/10.1016/j.ejmg.2014.09.003
European journal of medical genetics, 57(11-12), 613-616. Elsevier Masson SAS
European Journal of Medical Genetics, 57(11-12), 613-616. Elsevier Masson SAS
European journal of medical genetics, 57(11-12), 613-616. Elsevier Masson SAS
European Journal of Medical Genetics, 57(11-12), 613-616. Elsevier Masson SAS
Consanguinity is one of the most frequent risk factors for congenital disorders. In theory, prospective exome sequencing of consanguineous couples could identify couples who both are carriers of autosomal recessive diseases, and empower such couples
Autor:
Lidewij Henneman, Martina C. Cornel, Ghariba Loukili, Edien Bartels, Marieke Teeuw, Leo P. ten Kate
Publikováno v:
Teeuw, M E, Loukili, G, Bartels, E A C, ten Kate, L P, Cornel, M C & Henneman, L 2014, ' Consanguineous marriage and the reproductive risk: attides and understanding of ethnic groups practising consanguinity in Western society ', European Journal of Human Genetics, vol. 22, no. 4, pp. 452-457 . https://doi.org/10.1038/ejhg.2013.167
European Journal of Human Genetics, 22(4), 452-457. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 22(4), 452-457. Nature Publishing Group
European Journal of Human Genetics
Consanguineous couples should be adequately informed about their increased reproductive risk and possibilities for genetic counselling. Information may only be effective if it meets the needs of the target group. This study aimed to gain more insight
Autor:
Annie Plourde, Leo P. ten Kate
Publikováno v:
Journal of Community Genetics, 2(3), 111-115. Springer Verlag
Journal of Community Genetics
ten Kate, L P & Plourde, A 2011, ' A short history of the first 3 years of the Community Genetics Network and its newsletter ', Journal of Community Genetics, vol. 2, no. 3, pp. 111-115 . https://doi.org/10.1007/s12687-011-0049-x
Journal of Community Genetics
ten Kate, L P & Plourde, A 2011, ' A short history of the first 3 years of the Community Genetics Network and its newsletter ', Journal of Community Genetics, vol. 2, no. 3, pp. 111-115 . https://doi.org/10.1007/s12687-011-0049-x
When in 2007 it became clear that the Karger journal Community Genetics would change its name and scope, the first author started to establish an international, multidisciplinary e-mail network and a newsletter with papers authored by the members of
Autor:
Claire Julian-Reynier, Elizabeth Anionwu, Rodney Harris, Kirsty Challen, Caroline Benjamin, R. Peter Nippert, Irmgard Nippert, Leo P. ten Kate, Hilary Harris, Jörg Schmidtke, Ulf Kristoffersson
Publikováno v:
Nippert, I, Harris, H J, Julian-Reynier, C, Kristoffersson, U, ten Kate, L P, Anionwu, E, Benjamin, C, Challen, K, Schmidtke, J, Nippert, R P & Harris, R 2011, ' Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1 ', Journal of Community Genetics, vol. 2, no. 1, pp. 1-11 . https://doi.org/10.1007/s12687-010-0030-0
Journal of Community Genetics, 2(1), 1-11. Springer Verlag
Journal of Community Genetics, 2(1), 1-11. Springer Verlag
Western health care systems are facing today increasing movement of genetic knowledge from research labs into clinical practice. This paper reports the results of a survey that addressed the confidence of primary care physicians in their ability to c
Autor:
Phillis Lakeman, Martina C. Cornel, Lidewij Henneman, Anne Marie C. Plass, Leo P. ten Kate, P.D. Bezemer
Publikováno v:
European Journal of Human Genetics, 17(8), 999-1009. Nature Publishing Group
Lakeman, P, Plass, A M C, Henneman, L, Bezemer, P D, Cornel, M C & ten Kate, L P 2009, ' Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? ', European Journal of Human Genetics, vol. 17, no. 8, pp. 999-1009 . https://doi.org/10.1038/ejhg.2009.1
European journal of human genetics, 17(8), 999-1009. Nature Publishing Group
Lakeman, P, Plass, A M C, Henneman, L, Bezemer, P D, Cornel, M C & ten Kate, L P 2009, ' Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? ', European Journal of Human Genetics, vol. 17, no. 8, pp. 999-1009 . https://doi.org/10.1038/ejhg.2009.1
European journal of human genetics, 17(8), 999-1009. Nature Publishing Group
This paper explores determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis (CF) and haemoglobinopathies (HbPs). In total, 9453 individuals from a
Autor:
Lidewij Henneman, Anne Marie C. Plass, Leo P. ten Kate, P.D. Bezemer, Phillis Lakeman, Martina C. Cornel
Publikováno v:
Lakeman, P, Plass, A M C, Henneman, L, Bezemer, P D, Cornel, M C & ten Kate, L P 2008, ' Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands ', Genetics in Medicine, vol. 10, no. 11, pp. 820-830 . https://doi.org/10.1097/GIM.0b013e318188d04c
Genetics in Medicine, 10(11), 820-830. Lippincott Williams and Wilkins
Genetics in Medicine, 10(11), 820-830. Lippincott Williams and Wilkins
Objective: To study psychological outcomes, knowledge, recall and understanding of test-results, satisfaction, and reproductive intentions among 97 Western and 46 non-Western participants in a unique preconceptional carrier screening study for both c