Search Results - "Maarle, M. C."

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…”
Get full text

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.

Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get more information

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…”
Get full text

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)…”
Get full text

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…”
Get more information

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…”
Get full text

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.

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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…”
Get full text

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…”
Get more information