Search Results - "PAULUSSEN, Aimée D. C"

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy by Peltenburg, N Chantal, Leers, Mathie P G, Bakker, Jaap A, Lowe, Selwyn H, Vroemen, Wim H M, Paulussen, Aimée D C, van den Bosch, Bianca J C, Bierau, Jörgen, Verbon, Annelies

“…In HIV-infected patients, the enzyme Inosine triphosphate pyrophosphohydrolase (ITPase), involved in purine nucleotide homeostasis, was found to be decreased…”
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PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome by Gielen, Robbert-Jan C A M, Reinders, Marieke G H C, Koillinen, Hannele K, Paulussen, Aimée D C, Mosterd, Klara, van Geel, Michel

“…Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have…”
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Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience by Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with…”
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MLL2 mutation spectrum in 45 patients with Kabuki syndrome by Paulussen, Aimée D.C, Stegmann, Alexander P.A, Blok, Marinus J, Tserpelis, Demis, Posma-Velter, Crool, Detisch, Yvonne, Smeets, Eric E.J.G.L, Wagemans, Annemieke, Schrander, Jaap J.P, van den Boogaard, Marie-José H, van der Smagt, Jasper, van Haeringen, Arie, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Mancini, Grazia M, Wessels, Marja W, Hennekam, Raoul C.M, Vreeburg, Maaike, Geraedts, Joep, de Ravel, Thomy, Fryns, Jean-Pierre, Smeets, Hubert J, Devriendt, Koenraad, Schrander-Stumpel, Constance T.R.M

“…Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic…”
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Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV by Peltenburg, N Chantal, Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Lowe, Selwyn H, Paulussen, Aimée D C, van den Bosch, Bianca J C, Leers, Mathie P G, Hansen, Bettina E, Verbon, Annelies

“…The purine analogues tenofovir and abacavir are precursors of potential substrates for the enzyme Inosine 5'-triphosphate pyrophosphohydrolase (ITPase). Here,…”
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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification by Kamps, Rick, Brandão, Rita D, Bosch, Bianca J van den, Paulussen, Aimee D C, Xanthoulea, Sofia, Blok, Marinus J, Romano, Andrea

“…Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline…”
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Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process by van der Hout, Sanne, Woudstra, Anke J, Dondorp, Wybo, Sallevelt, Suzanne, de Die-Smulders, Christine, Paulussen, Aimee D C, de Wert, Guido

“…Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples…”
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Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals by Bierau, Jörgen, Bakker, Jaap A, Schippers, Jolanda A, Grashorn, Janine A C, Lindhout, Martijn, Lowe, Selwyn H, Paulussen, Aimée D C, Verbon, Annelies

“…Inosine triphosphatase (ITPase) is encoded by the polymorphic gene ITPA and maintains low intracellular levels of the inosine nucleotides ITP and dITP. The…”
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice by Sallevelt, Suzanne C.E.H., Stegmann, Alexander P.A., de Koning, Bart, Velter, Crool, Steyls, Anja, van Esch, Melanie, Lakeman, Phillis, Yntema, Helger, Esteki, Masoud Zamani, de Die-Smulders, Christine E.M., Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G., Paulussen, Aimée D.C.

“…Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as…”
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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing by Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M., van Golde, Ron J. T., de Wert, Guido, Dreesen, Jos C. F. M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D. C., Zamani Esteki, Masoud

“…High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples…”
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Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro by Natesan, Senthilkumar A., Bladon, Alex J., Coskun, Serdar, Qubbaj, Wafa, Prates, Renata, Munne, Santiago, Coonen, Edith, Dreesen, Joseph C.F.M., Stevens, Servi J.C., Paulussen, Aimee D.C., Stock-Myer, Sharyn E., Wilton, Leeanda J., Jaroudi, Souraya, Wells, Dagan, Brown, Anthony P.C., Handyside, Alan H.

“…Purpose: Our aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with the accuracy of…”
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Genome sequencing as a generic diagnostic strategy for rare disease by Schobers, Gaby, Derks, Ronny, den Ouden, Amber, Swinkels, Hilde, van Reeuwijk, Jeroen, Bosgoed, Ermanno, Lugtenberg, Dorien, Sun, Su Ming, Corominas Galbany, Jordi, Weiss, Marjan, Blok, Marinus J, Olde Keizer, Richelle A C M, Hofste, Tom, Hellebrekers, Debby, de Leeuw, Nicole, Stegmann, Alexander, Kamsteeg, Erik-Jan, Paulussen, Aimee D C, Ligtenberg, Marjolijn J L, Bradley, Xiangqun Zheng, Peden, John, Gutierrez, Alejandra, Pullen, Adam, Payne, Tom, Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G, Nelen, Marcel, Yntema, Helger G, Vissers, Lisenka E L M

“…To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome…”
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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease by Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia

“…Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due…”
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers by Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

“…Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in…”
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy by Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

“…Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients…”
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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome by Roemen, Guido M J M, Theunissen, Tom E J, Hoezen, Ward W J, Steyls, Anja R M, Paulussen, Aimee D C, Mosterd, Klara, Rahikkala, Elisa, Zur Hausen, Axel, Speel, Ernst Jan M, van Geel, Michel

“…Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is…”
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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications by Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.

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Genetic basis of drug-induced arrhythmias by Vos, Marc A, Paulussen, Aimée D C

“…Drug-induced torsade de pointes arrhythmia (TdP) is frequently seen in patients. This proarrhythmia is not restricted to anti-arrhythmics but includes a…”
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Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination by Mersy, Elke, Faas, Brigitte H W, Spierts, Sabine, Houben, Leonie M H, Macville, Merryn V E, Frints, Suzanna G M, Paulussen, Aimee D C, Veltman, Joris A

“…Noninvasive genetic tests that use cell-free fetal DNA (cffDNA) are used increasingly in prenatal care. A low amount of cffDNA can have detrimental effects on…”
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Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis by MOONEN, Rob M. J, PAULUSSEN, Aimee D. C, SOUREN, Nicole Y. P, KESSELS, Alfons G. H, RUBIO-GOZALBO, M. Estela, VILLAMOR, Eduardo

“…A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been correlated with low plasma concentrations…”
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