Search Results - "van Maarle, M C"

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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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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Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study by Bet, B. B., Lugthart, M. A., Linskens, I. H., van Maarle, M. C., van Leeuwen, E., Pajkrt, E.

“…ABSTRACT Objectives An increased nuchal translucency (NT) thickness of ≥ 3.5 mm is a well‐established marker for congenital anomalies and adverse pregnancy…”
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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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Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies by Lugthart, M. A., Heinrich, H., Ertugrul, I., Nsiah‐Asare, E. N., Kamp, K., Linskens, I. H., Maarle, M. C., Leeuwen, E., Pajkrt, E.

“…Objective To determine whether implementation of cell‐free DNA (cfDNA) testing for aneuploidy as a first‐tier test and subsequent abolition of first trimester…”
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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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Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions by Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., Maarle, M. C., Vreeburg, M., Bolling, M. C., Geel, M., Gostyński, A.

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Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal by Postma, A V, Alders, M, Sylva, M, Bilardo, C M, Pajkrt, E, van Rijn, R R, Schulte-Merker, S, Bulk, S, Stefanovic, S, Ilgun, A, Barnett, P, Mannens, M M A M, Moorman, A F M, Oostra, R J, van Maarle, M C

“…The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the…”
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Fetal forearm anomalies: prenatal diagnosis, associations and management strategy by Pajkrt, Eva, Cicero, Simona, Griffin, David R., van Maarle, M. C., Chitty, Lyn S.

“…ABSTRACT Objective To determine the underlying associations in fetuses with forearm anomalies, and to derive a management strategy to improve prenatal…”
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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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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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Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants by van Maarle, M C, Stouthard, M E A, Bonsel, G J

“…Overall, our longitudinal survey of an unselected cohort of FH screening participants showed on average no adverse effects either on short or long term QoL…”
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OP01.02: Enlarged nuchal translucency: more common in boys large for gestational age at birth by Timmerman, E., Pajkrt, E., van Maarle, M. C., Snijders, R. J. M., Bilardo, C. M.

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Reply by Bet, B B, Lugthart, M A, Linskens, I H, van Maarle, M C, E van Leeuwen, Pajkrt, E

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Reply by Bet, B. B., Lugthart, M. A., Linskens, I. H., van Maarle, M. C., van Leeuwen, E., Pajkrt, E.

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Reply by Bet, B B, Lugthart, M A, Linskens, I H, van Maarle, M C, van Leeuwen, E, Pajkrt, E

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Reply by Bet, B B, Lugthart, M A, Linskens, I H, van Maarle, M C, van Leeuwen, E, Pajkrt, E

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Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough? by van Maarle, Merel C, Stouthard, Marlies E A, Marang-van de Mheen, Perla J, Klazinga, Niek S, Bonsel, Gouke J

“…Familial hypercholesterolaemia is an autosomal dominant disorder of lipoprotein metabolism, with an estimated frequency of I in 500 in Western countries; it…”
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Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis by Vos, Yvonne J, de Walle, Hermien E K, Bos, Krista K, Stegeman, Jenneke A, Ten Berge, Annelies M, Bruining, Martijn, van Maarle, Merel C, Elting, Mariet W, den Hollander, Nicolette S, Hamel, Ben, Fortuna, Ana Maria, Sunde, Lone E M, Stolte-Dijkstra, Irene, Schrander-Stumpel, Connie T R M, Hofstra, Robert M W

“…To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM…”
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SESSION 05: EARLY PREGNANCY by Mignini Renzini, M., Dal Canto, M., Coticchio, G., Novara, P., Turchi, D., Lain, M., Guarnieri, T., Brambillasca, F., Fadini, R., Lash, G. E., Innes, B. A., Drury, J. A., Quenby, S., Bulmer, J. N., Goddijn, M., Boogaard van den, E., Scheenjes, E., Kremer, J. A. M., Veen van der, F., Hermens, R. P. M. G., Vansenne, F., De Borgie, C. A. J. M., Snijder, S., Redeker, E. J. W., Van Maarle, M. C., Wouters, C. H., Bruggenwirth, H. T., Van der Veen, F., Bossuyt, P. M. M., Ledger, W., Alsbjerg, B., Tomas, C., Martikainen, H., Humaidan, P.

“…Abstract only…”
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