Search Results - "van Maarle, M.C."

How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views by van Maarle, M C, Stouthard, M E A, Marang-van de Mheen, P J, Klazinga, N S, Bonsel, G J

“…To assess the screenees' views on, and the psychological impact of, a family-based genetic screening programme for familial hypercholesterolaemia (FH) and to…”
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Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene by de Vries, R.J., Jaeger, B., Hellebrekers, D.M.E.I., Reneman, L., Verhamme, C., Smeets, H.J.M., van Maarle, M.C., de Visser, M., Bleeker, F.E.

“…Variants of the C19ORF12-gene have been described in patients with spastic paraplegia type 43 and in patients with mitochondrial membrane protein-associated…”
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Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study by 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., 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.

“…Incidentally, the non-invasive prenatal test (NIPT) shows chromosomal aberrations suspicious of a maternal malignancy, especially after genome-wide testing…”
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Association of TNF-α serum levels and TNFA promoter polymorphisms with risk of myocardial infarction by Bennet, A.M., van Maarle, M.C., Hallqvist, J., Morgenstern, R., Frostegård, J., Wiman, B., Prince, J.A., de Faire, U.

“…Elevated levels of tumor necrosis factor-alpha (TNF-α), and presence of polymorphisms of the TNFA gene have been implicated in cardiovascular disease…”
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Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene by Bilardo, C. M., van Rijn, R. R., Oostra, R. J., Robles de Medina, P., van Maarle, M. C., Fontanella, F., Pajkrt, E.

“…Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of…”
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Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia by van Maarle, M.C., Stouthard, M.E.A., Bonsel, G.J.

“…The aim of this article is threefold. First, we describe the accuracy of people's risk perception who have been screened on familial hypercholesterolemia (FH)…”
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Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands by Marang-van de Mheen, P J, van Maarle, M C, Stouthard, M E A

“…Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant inherited metabolic disease with a prevalence of 1 in 500 in most Western…”
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