Search Results - "Knegt, Lia C"

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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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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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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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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