A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release
van Boven, Maaike A., Mestroni, Marta, Zwijnenburg, Petra J. G., Verhage, Matthijs, Cornelisse, L. Niels
Published in Molecular psychiatry (01.06.2024)
Published in Molecular psychiatry (01.06.2024)
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
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Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., de Beek, Irma, Dulfer, Eelco, Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients
Pijpers, Adinda G H, Eeftinck Schattenkerk, Laurens D, Straver, Bart, Zwijnenburg, Petra J G, Broers, Chantal J M, Van Heurn, Ernest L W, Gorter, Ramon R, Derikx, Joep P M
Published in Children (Basel) (24.11.2022)
Published in Children (Basel) (24.11.2022)
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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
Lemmens, Robin, Maugeri, Alessandra, Niessen, Hans W M, Goris, An, Tousseyn, Thomas, Demaerel, Philippe, Corveleyn, Anniek, Robberecht, Wim, van der Knaap, Marjo S, Thijs, Vincent N, Zwijnenburg, Petra J G
Published in Human molecular genetics (15.01.2013)
Published in Human molecular genetics (15.01.2013)
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IL-1 Receptor Type 1 Gene-Deficient Mice Demonstrate an Impaired Host Defense Against Pneumococcal Meningitis
Zwijnenburg, Petra J. G, van der Poll, Tom, Florquin, Sandrine, Roord, John J, van Furth, A. Marceline
Published in The Journal of immunology (1950) (01.05.2003)
Published in The Journal of immunology (1950) (01.05.2003)
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Chemotactic Factors in Cerebrospinal Fluid during Bacterial Meningitis
Zwijnenburg, Petra J. G, Poll, Tom van der, Roord, John J, Furth, A. Marceline van
Published in Infection and immunity (01.03.2006)
Published in Infection and immunity (01.03.2006)
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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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C1 Inhibitor Treatment Improves Host Defense in Pneumococcal Meningitis in Rats and Mice
Zwijnenburg, Petra J. G., Poll, Tom van der, Florquin, Sandrine, Polfliet, Machteld M. J., van den Berg, Timo K., Dijkstra, Christine D., Roord, John J., Erik Hack, C., Marceline van Furth, A.
Published in The Journal of infectious diseases (01.07.2007)
Published in The Journal of infectious diseases (01.07.2007)
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The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study
de Beaufort, Cunera M.C., van den Akker, Alex C.M., Kuijper, Caroline F., Broers, Chantal J.M., de Jong, Justin R., de Beer, Sjoerd A., Straver, Bart, Zwijnenburg, Petra J.G., Gorter, Ramon R.
Published in Journal of pediatric surgery (01.09.2023)
Published in Journal of pediatric surgery (01.09.2023)
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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D'Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone
Published in Kidney international (01.12.2015)
Published in Kidney international (01.12.2015)
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Experimental Pneumococcal Meningitis in Mice: A Model of Intranasal Infection
Zwijnenburg, Petra J. G., van der Poll, Tom, Florquin, Sandrine, van Deventer, Sander J. H., Roord, John J., van Furth, A. Marceline
Published in The Journal of infectious diseases (01.04.2001)
Published in The Journal of infectious diseases (01.04.2001)
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PITX2 and FOXC1 spectrum of mutations in ocular syndromes
REIS, Linda M, TYLER, Rebecca C, SEMINA, Elena V, KLOSS, Bethany A.volkmann, SCHILTER, Kala F, LEVIN, Alex V, LOWRY, R. Brian, ZWIJNENBURG, Petra Jg, STROH, Eliza, BROECKEL, Ulrich, MURRAY, Jeffrey C
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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Meningeal and Perivascular Macrophages of the Central Nervous System Play a Protective Role During Bacterial Meningitis
Polfliet, Machteld M. J, Zwijnenburg, Petra J. G, van Furth, A. Marceline, van der Poll, Tom, Dopp, Ed A, Renardel de Lavalette, Chantal, van Kesteren-Hendrikx, Esther M. L, van Rooijen, Nico, Dijkstra, Christien D, van den Berg, Timo K
Published in The Journal of immunology (1950) (15.10.2001)
Published in The Journal of immunology (1950) (15.10.2001)
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Interleukin-10 Negatively Regulates Local Cytokine and Chemokine Production but Does Not Influence Antibacterial Host Defense during Murine Pneumococcal Meningitis
ZWIJNENBURG, Petra J. G, VAN DER POLL, Tom, FLORQUIN, Sandrine, ROORD, John J, VAN FURTH, A. Marceline
Published in Infection and Immunity (01.04.2003)
Published in Infection and Immunity (01.04.2003)
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