Zobrazeno 1 - 10 of 151 pro vyhledávání: '"L. P. ten Kate"'
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Akademický článek
The Role of Parent‐Child Relationships and Filial Expectations in Loneliness Among Older Turkish Migrants
Autor: Rowan L. F. ten Kate, Başak Bilecen, Nardi Steverink
Publikováno v: Social Inclusion, Vol 9, Iss 4, Pp 291-303 (2021)
Older first‐generation migrants living in Europe, particularly Turkish migrants, feel relatively lonely, which indicates social exclusion. Social embeddedness within the family, particularly parent‐child relationships, can alleviate loneliness fo
Externí odkaz: https://doaj.org/article/ddf36a78b6824baeb7505719c51a03a2
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2
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome
Autor: Peter Heutink, Fowzan S. Alkuraya, Eamonn Sheridan, Lidewij Henneman, Martina C. Cornel, Piet J. Kostense, A. van Haeringen, Patrizia Rizzu, Wided Kelmemi, Jan-Maarten Cobben, Amira Masri, M. Hashem, Hülya Kayserili, Zoltán Bochdanovits, Charlotte J. Dommering, Sander Ouburg, Marieke Teeuw, Marianne A. Jonker, L. P. ten Kate, H. Bouhamed-Chaabouni
Publikováno v: Kelmemi, W, Teeuw, M E, Bochdanovits, Z, Ouburg, S, Jonker, M A, Alkuraya, F, Hashem, M, Kayserili, H, van Haeringen, A, Sheridan, E, Masri, A, Cobben, J M, Rizzu, P, Kostense, P J, Dommering, C J, Henneman, L, Bouhamed-Chaabouni, H, Heutink, P, ten Kate, L P & Cornel, M C 2015, ' Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ', BMC Medical Genetics, vol. 16, 50 . https://doi.org/10.1186/s12881-015-0191-0
BMC Medical Genetics, 16:50. BioMed Central
BMC medical genetics 16(1), 50 (2015). doi:10.1186/s12881-015-0191-0
BMC medical genetics, 16(1). BioMed Central
BMC Medical Genetics
BMC Medical Genetics, 16
Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be1eec32d5a333f92bac57d08e74873
https://research.vu.nl/en/publications/a11d44ba-b8ef-426c-bbb5-d951bf8d5b1a
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3
Costs, effects, and savings of screening for cystic fibrosis gene carriers
Autor: H. B. M. Hilderink, J. D. F. Habbema, J. G. Verzijl, L. Kooij, Mark F. Wildhagen, T. Tijmstra, Joke B. G. M. Verheij, L. P. Ten Kate
Publikováno v: Journal of Epidemiology and Community Health, 52, 459-467. BMJ Publishing Group
Journal of Epidemiology and Community Health, 52(7), 459-467. BMJ PUBLISHING GROUP
Study objective-Evaluating the costs, effects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening.Design-A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6821dad002584c6d5502e6b374c4d9e
https://research.rug.nl/en/publications/1c0e5ce2-101c-4147-a2d3-88aa39031c86
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4
An atypical case of Fanconi anemia in elderly sibs
Autor: Hans Joenje, M. L. Kwee, L. P. Ten Kate, J. H. Begeer, Fré Arwert, J. M. van der Kleij, A. J. van Essen
Publikováno v: American Journal of Medical Genetics, 68(3), 362-366. WILEY-LISS
We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875591fdd6a9b8ae939b0d7ed0d83509
https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<362::aid-ajmg21>3.0.co
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5
Down syndrome in the family
Autor: Jan C. Oosterwijk, Joep H. A. M. Tuerlings, L. P. Ten Kate
Publikováno v: Prenatal Diagnosis, 16(6), 554-558. Wiley-Blackwell
There is as yet no clear protocol available for counselling a person who has one or more relatives with Down syndrome of unknown genotype. Counsellors use different approaches based on their own experience. We present a protocol for practical use whi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2176618aa231821263e1b891054256a2
https://research.rug.nl/en/publications/87ddaff9-2a45-4403-86e4-7be6cfbd1898
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6
EARLY PRENATAL DIAGNOSIS OF FANCONI ANAEMIA IN A TWIN PREGNANCY, USING DNA ANALYSIS
Autor: P. A. In 'T Veld, K. Madan, A. R. Van Der Horst, Nieuwint Aw, L. P. Ten Kate, Fré Arwert, J.M.G. van Vugt, G. Pals, J.R. Lo Ten Foe, M. L. Kwee
Publikováno v: Prenatal Diagnosis. 16:345-348
We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c7504a487dd94a9bb1937eb6e9c0873
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co
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7
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
Autor: Hans R. Waterham, Theo Boer, L. P. ten Kate, Trijnie Bos, Gerrit Smit, J. M. M. Rondeel, Dirk Reijngoud, Klaziena Niezen-Koning, A. van Assen, Jaap H. Ruiter, J. G. Loeber, Terry G J Derks, R. J. A. Wanders
Publikováno v: Journal of inherited metabolic disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. SPRINGER
Derks, T G J, Boer, T S, van Assen, A, Bos, T, de Ruiter, J, Waterham, H R, Niezen-Koning, K E, Wanders, R J A, Rondeel, J M M, Loeber, J G, ten Kate, L P, Smit, G P A & Reijngoud, D J 2008, ' Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency ', Journal of Inherited Metabolic Disease, vol. 31, no. 1, pp. 88-96 . https://doi.org/10.1007/s10545-007-0492-3
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. Prospective population-wide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf279e6d6ee87075ad71b110706d4d73
https://pure.amc.nl/en/publications/neonatal-screening-for-mediumchain-acylcoa-dehydrogenase-mcad-deficiency-in-the-netherlands-the-importance-of-enzyme-analysis-to-ascertain-true-mcad-deficiency(8e383323-b68b-4de7-8b08-2f5dc24aeff2).html
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8
[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities]
Autor: L P, ten Kate
Publikováno v: Nederlands tijdschrift voor geneeskunde. 150(29)
In the past, prenatal diagnosis of chromosomal abnormalities has been achieved using a microscope to make a visual assessment of the chromosomes in foetal cells which had been obtained by invasive procedures. The results were usually not available un
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::064bc87d329af30e7b15ec1c36ade3f1
https://pubmed.ncbi.nlm.nih.gov/17131707
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9
Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study
Autor: Martina C. Cornel, G. (Gerrit) van der Wal, J.C.C Braspenning, Francis A. M. Poppelaars, L. P. ten Kate, M.W. Langendam, Lidewij Henneman
Publikováno v: Public Health, 117, 6, pp. 396-403
European Journal of Human Genetics, 10, 137-137. Nature Publishing Group
Public Health, 117, 396-403
Public Health, 117(6), 396-403. Elsevier
Poppelaars, F, van der Wal, G, Braspenning, J, Cornel, M, Henneman, L, Langendam, M & ten Kate, L 2002, ' Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study ', European Journal of Human Genetics, vol. 10, pp. 137-137 .
Public health, 117(6), 396-403. Elsevier
Poppelaars, F A M, van der Wal, G, Braspenning, J C C, Cornel, M C, Henneman, L, Langendam, M W & ten Kate, L P 2003, ' Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers : A focus group study ', Public Health, vol. 117, no. 6, pp. 396-403 . https://doi.org/10.1016/S0033-3506(03)00136-7
Item does not contain fulltext OBJECTIVE: This qualitative study aimed to explore possibilities and barriers in the implementation of a nationwide preconceptional cystic fibrosis (CF) carrier screening programme. METHODS: Sessions were held with two
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4625508c6a6119509ed4e944f2b7493
https://hdl.handle.net/2066/185136
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10
Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)
Autor: L, Henneman, I, Bramsen, T A, Van Os, I E, Reuling, H G, Heyerman, J, van der Laag, H M, van der Ploeg, L P, ten Kate
Publikováno v: Prenatal diagnosis. 21(1)
Assessing the reproductive choices of parents of children with cystic fibrosis (CF) is important in getting a greater insight into the possible needs for counselling of carrier couples in the reproductive decision-making process. Also, parents' repro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::60cbd1068eb3e85b1052398f061188da
https://pubmed.ncbi.nlm.nih.gov/11180232
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