Search Results - "Paulussen, A.D.C"

Evolution of Dihydropyrimidine Dehydrogenase (DPD) Diagnostics in A Single Center in A Time-Period of Seven Years by van den Bosch, B.J.C, Paulussen, A.D.C, Breuer, M, Lindhout, M, Tserpelis, D.C.J, Steyls, A, Bierau, J, Coenen, M.J.H

“…In this time-frame the test has evolved from a single enzyme measurement using ultra-high performance liquid chromatography (UHPLC) in peripheral blood…”
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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome by Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D.C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C.E., Gardeitchik, T., van Putten, W.K., Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.

“…Taybi‐Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms…”
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A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes by Saenen, J.B, Paulussen, A.D.C, Jongbloed, R.J, Marcelis, C.L, Gilissen, R.A.H.J, Aerssens, J, Snyders, D.J, Raes, A.L

“…Abstract The long QT syndrome (LQTS) is a multi-factorial disorder that predisposes to life-threatening arrhythmias. Both hereditary and acquired subforms have…”
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Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 by Mersy, E, Smits, L J M, van Winden, L A A P, de Die-Smulders, C E M, Paulussen, A D C, Macville, M V E, Coumans, A B C, Frints, S G M

“…Research on noninvasive prenatal testing (NIPT) of fetal trisomy 21 is developing fast. Commercial tests have become available. To provide an up-to-date…”
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Postzygotic mosaicism in basal cell naevus syndrome by Reinders, M.G.H.C., Boersma, H.J., Leter, E.M., Vreeburg, M., Paulussen, A.D.C., Arits, A.H.M.M., Roemen, G.M.J.M., Speel, E.J.M., Steijlen, P.M., Geel, M., Mosterd, K.

“…Summary Basal cell naevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the Drosophila homologue of…”
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Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors by Souren, N.Y, Paulussen, A.D.C, Steyls, A, Loos, R.J.F, Brandao, R.D, Gielen, M, Smeets, H.J.M, Beunen, G, Fagard, R, Derom, C, Vlietinck, R, Geraedts, J.P, Zeegers, M.P

“…Objective: The maternally imprinted insulin-like growth factor 2 (IGF2) gene is an important fetal growth factor and is also suggested to have postnatal…”
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Risk factors for drug-induced long-QT syndrome by Paulussen, A D C, Aerssens, J

“…Congenital long-QT syndrome (cLQTS) is a ventricular arrhythmia that is characterised by a prolonged QT interval on the surface electro-cardiogram (ECG)…”
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