P. Zwijnenburg

发表

Identical but Not the Same: the Value of Discordant Monozygotic Twins in Genetic Research Neuropsychiatric Genetics

D. Boomsma, H. Meijers-Heijboer, H. Meijers-Heijboer, 2010 .

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Interleukin-10 Negatively Regulates Local Cytokine and Chemokine Production but Does Not Influence Antibacterial Host Defense during Murine Pneumococcal Meningitis

T. van der Poll, S. Florquin, P. Zwijnenburg, 2003, Infection and Immunity.

Experimental pneumococcal meningitis in mice: a model of intranasal infection.

T. van der Poll, S. V. van Deventer, S. Florquin, 2001, The Journal of infectious diseases.

IL-1 Receptor Type 1 Gene-Deficient Mice Demonstrate an Impaired Host Defense Against Pneumococcal Meningitis

T. van der Poll, S. Florquin, P. Zwijnenburg, 2003, The Journal of Immunology.

Interleukin-18 gene-deficient mice show enhanced defense and reduced inflammation during pneumococcal meningitis

S. Akira, K. Takeda, T. Poll, 2003, Journal of Neuroimmunology.

UvA-DARE (Digital Academic Repository) Experimental pneumococcal meningitis in mice: A model of intranasal infection Zwijnenburg,

S. Deventer, T. Poll, S. Florquin, 2022 .

Chemotactic activity of CXCL5 in cerebrospinal fluid of children with bacterial meningitis

T. Poll, P. Zwijnenburg, J. Roord, 2003, Journal of Neuroimmunology.

Nonrandom tissue distribution of mutant mtDNA.

D. Turnbull, P. Chinnery, N. Howell, 1999, American journal of medical genetics.

Role During Bacterial Meningitis the Central Nervous System Play a Protective Meningeal and Perivascular Macrophages of Berg

T. Poll, N. Rooijen, C. Dijkstra, 2001 .

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

A. Goris, W. Robberecht, V. Thijs, 2013, Human molecular genetics.

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

R. Hennekam, T. Prescott, L. Al-Gazali, 2009, Nature Genetics.

Against Pneumococcal Meningitis Demonstrate an Impaired Host Defense IL-1 Receptor Type 1 Gene-Deficient Mice

T. Poll, P. Zwijnenburg, J. Roord, 2013 .

Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics

A. Moll, P. de Graaf, P. Zwijnenburg, 2020, Acta ophthalmologica.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

U. Broeckel, J. Murray, L. Reis, 2012, European Journal of Human Genetics.

C1 inhibitor treatment improves host defense in pneumococcal meningitis in rats and mice.

T. van der Poll, C. Hack, T. K. van den Berg, 2007, The Journal of infectious diseases.

C 1 Inhibitor Treatment Improves Host Defense in Pneumococcal Meningitis in Rats and Mice

C. Hack, T. Poll, S. Florquin, 2007 .

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction—A Retrospective Cohort Study of 112 Patients

J. Derikx, P. Zwijnenburg, B. Straver, 2022, Children.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

First steps in exploring prospective exome sequencing of consanguineous couples.

H. Meijers-Heijboer, Q. Waisfisz, E. Sistermans, 2014, European journal of medical genetics.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Chemotactic Factors in Cerebrospinal Fluid during Bacterial Meningitis

T. van der Poll, P. Zwijnenburg, J. Roord, 2006, Infection and Immunity.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

C. Depienne, F. Saudou, C. Bacino, 2020, Nature Communications.

Meningeal and Perivascular Macrophages of the Central Nervous System Play a Protective Role During Bacterial Meningitis

T. van der Poll, T. K. van den Berg, N. Van Rooijen, 2001, The Journal of Immunology.

Alice in Wonderland Syndrome: A Clinical Presentation of Frontal Lobe Epilepsy

W. Linssen, P. Zwijnenburg, D. Laman, 2002, Neuropediatrics.

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

V. D’Agati, A. Gharavi, S. Sanna-Cherchi, 2015, Kidney international.

After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

J. Oosterwijk, E. Bakker, F. Petrij, 2013, Public Health Genomics.

5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

A. Bayat, M. Bayat, T. D. Hjortshøj, 2021, American journal of medical genetics. Part A.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

M. Weiss, A. Rauch, K. Kutsche, 2020, American journal of human genetics.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

S. Robertson, S. Mansour, R. Newbury-Ecob, 2012, European Journal of Human Genetics.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study.

P. Zwijnenburg, B. Straver, R. Gorter, 2022, Journal of pediatric surgery.

CXC-chemokines KC and macrophage inflammatory protein-2 (MIP-2) synergistically induce leukocyte recruitment to the central nervous system in rats.

T. van der Poll, T. K. van den Berg, S. V. van Deventer, 2003, Immunology letters.

Identical but not the same: The value of discordant monozygotic twins in genetic research

H. Meijers-Heijboer, P. Zwijnenburg, D. Boomsma, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.