Search Results - "Knegt, Lia"

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing by van Kuilenburg, André B.P., Meijer, Judith, Maurer, Dirk, Dobritzsch, Doreen, Meinsma, Rutger, Los, Maartje, Knegt, Lia C., Zoetekouw, Lida, Jansen, Rob L.H., Dezentjé, Vincent, van Huis-Tanja, Lieke H., van Kampen, Roel J.W., Hertz, Jens Michael, Hennekam, Raoul C.M.

“…Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). Genetic variations in DPD have emerged…”
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Genetic Analyses in Small-for-Gestational-Age Newborns by Stalman, Susanne E, Solanky, Nita, Ishida, Miho, Alemán-Charlet, Cristina, Abu-Amero, Sayeda, Alders, Marielle, Alvizi, Lucas, Baird, William, Demetriou, Charalambos, Henneman, Peter, James, Chela, Knegt, Lia C, Leon, Lydia J, Mannens, Marcel M A M, Mul, Adi N, Nibbering, Nicole A, Peskett, Emma, Rezwan, Faisal I, Ris-Stalpers, Carrie, van der Post, Joris A M, Kamp, Gerdine A, Plötz, Frans B, Wit, Jan M, Stanier, Philip, Moore, Gudrun E, Hennekam, Raoul C

“…Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that…”
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Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates by Henneman, Peter, Bouman, Arjan, Mul, Adri, Knegt, Lia, van der Kevie-Kersemaekers, Anne-Marie, Zwaveling-Soonawala, Nitash, Meijers-Heijboer, Hanne E J, van Trotsenburg, A S Paul, Mannens, Marcel M

“…Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of…”
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The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? by Barge-Schaapveld, Daniela Q.C.M., Maas, Saskia M., Polstra, Abeltje, Knegt, Lia C., Hennekam, Raoul C.M.

“…One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay,…”
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An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality by Ferrer, Christina M, Alders, Marielle, Postma, Alex V, Park, Seonmi, Klein, Mark A, Cetinbas, Murat, Pajkrt, Eva, Glas, Astrid, van Koningsbruggen, Silvana, Christoffels, Vincent M, Mannens, Marcel M A M, Knegt, Lia, Etchegaray, Jean-Pierre, Sadreyev, Ruslan I, Denu, John M, Mostoslavsky, Gustavo, van Maarle, Merel C, Mostoslavsky, Raul

“…It has been well established that histone and DNA modifications are critical to maintaining the equilibrium between pluripotency and differentiation during…”
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Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia by van Koningsbruggen, Silvana, Knoester, Hennie, Bakx, Roel, Mook, Olaf, Knegt, Lia, Cobben, Jan Maarten

“…We report on a boy with a neonatal short limb skeletal dysplasia with serious medical complications, associated with one intragenic and one complete deletion…”
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Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31 by Bouman, Arjan, Knegt, Lia, Gröschel, Stefan, Erpelinck, Claudia, Sanders, Mathijs, Delwel, Ruud, Kuijpers, Taco, Cobben, Jan Maarten

“…Interstitial deletions encompassing the 3q26.2 region are rare. Only one case‐report was published this far describing a patient with an interstitial deletion…”
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Trisomy 4 mosaicism: Delineation of the phenotype by Bouman, Arjan, van der Kevie-Kersemaekers, Anne-Marie, Huijsdens-van Amsterdam, Karin, Dahhan, Nordin, Knegt, Lia, Vansenne, Fleur, Cobben, Jan Maarten

“…Trisomy 4 mosaicism in liveborns is very rare. We describe a 17‐month‐old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to…”
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Communication with patients during the prenatal testing procedure: An explorative qualitative study by van Zwieten, Myra, Willems, Dick, Knegt, Lia, Leschot, Nico

“…While generally two phases of prenatal genetic counseling are distinguished, i.e. pre- and post-test counseling, we revealed a third form of communication…”
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Reciprocal translocation carriers in recurrent miscarriage parents may yield an unbalanced fetal chromosome pattern by Sugiura-Ogasawara, Mayumi

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Reply to ‘Reciprocal translocation carriers ascertained for recurrent miscarriage have a possibility to yield an unbalanced fetal chromosome pattern’ by Goddijn, Mariëtte, Joosten, Hannie, Knegt, Lia, van der Veen, Fulco, Franssen, Maureen, Bonsel, Gouke, Leschot, Nico

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Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies by Leschot, N J, Wolf, H, Verjaal, M, van Prooijen-Knegt, L C, de Boer, E G, Kanhai, H H, Christiaens, G C

“…The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used,…”
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Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome by Tamminga, Saskia, Stalman, Susanne E, Kamp, Gerdine A, Hendriks, Yvonne M C, Knegt, A C Lia, Elting, M W Mariet

“…Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal…”
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