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Proefschriften Klinische Genetica



Jaar Auteur Titel
2018Roy Masius Modelling Parkinson’s Disease Using Human iPSC-derived Neurons 
2018Anne GoverdeLynch Syndrome Improving Diagnostics and Surveillance 
2018 Oosterhof, N Microglia in Health and Disease: Learning from the zebrafish 
2018 Yavuzyigitoglu, SGenetic Classification of Uveal Melanoma 
2017 Erik van der Wal Modeling of Pompe Disease using Induced Pluripotent Stem Cells for the Development of Novel Therapies 
2017 Shimriet Zeidler Fragile X Syndrome: The quest for targeted treatment
2017 Qiushi Liang A step Forward Lentiviral Gene Therapy as a Cure for Pompe Disease 
2017 A.I. Iglesias Gonzalez From Gene Discovery to Understanding The Molecular Pathways in Primary Open-Angle Glaucoma 
2016 Halim, D Congenital Diseases of the Intestine 
2016 Chauhan, R.K. Genetic and Functional Studies of Hirschsprung Disease 
2016Bergsma, A.J.Pre-mRNA Splicing in Pompe Disease
Prospects for antisense therapy
2016Buijsen, R.A.M.Fragile X-associated Tremor/ Ataxia Syndrome: RNA or RAN? 
2016 Oegema, R.Malformations of cortical development. Clinical and genetic characterization.
2016 Olgiati, S.Genetics of movement disorders  
2015 Koopmans, A.E.Prognostic Implications of Acquired Genetic Changes in Uveal Melanoma
(Promotors: Prof.dr. J.R. Vingerling, Prof.dr. D. Paridaens. Co-promotors: Dr. J.E.M.M. de Klein, Dr. E Kiliç) 
2015 Leenen, C.H.M. Diagnostic Strategies for Early Lynch Syndrome Detection, from molecular testing to economic evaluation. (Promotors: Prof.dr. E.J. Kuipers, Prof. dr. E.W. Steyerberg. Co-promotors: Dr. W.N.M. Dinjens, Dr. M.E. van Leerdam, Dr. A. Wagner) 
2014Esch, C. de Therapeutic targets and translational endpoints in fragile X syndrome
2014 Brosens, E. Foregut development: an act of balance 
2014 Meuwissen, M. Genetic Causes of Cerebrovascular Disorders in Childhood
2013 Quadri, M.L. Finding genes for Parkinsonism 
2013 Poulton, C Genes and mechanisms in primary microcephaly 
2013 French, V. Genetic analysis and functional modelling of inherited cardiovascular diseases 
2013 Pop, A. Fragile X syndrome: Steps towards therapy 
2012 Demirkan, Ayse A genetic epidemiological study of lipids and depressive symptons 
2012 Zhao, Tianna Hereditary Early-onset Parkinsonism. The role of the FBXO07 protein 
2012 Laar, Ingrid van de Clinical and Genetic Studies in Inherited Cardiovascular Malformations 
2012 Heijer, Mariska den The Long-Term Psychological Impact of either Regular Surveillance or Prophylactic Mastectomy in Women at Risk for Hereditary Breast Cancer 
2012 Punzo, Francesca Pathologic Hematopoiesis: Congenital Dyserythropoietic Anemie Type II, Congenital Erythrocytosis and Thrombocytopenias 
2012 Bosch, Thomas van den Genetic Prognostic Factors and Follow-up in Uveal Melanoma 
2012 Veenma, Danielle Genetic and Epegenetic Interplay in Congenital Diaphragmatic Hernia 
2012 Van den Berg, Ilse Maria Epigenetic reprogramming during human oocyte maturation and eraly human development
2011 Amin, N. A genetic epidemiological study of behavioral traits 
2011 Brusse, E. Adult-onset Cereballar Ataxia. A clinical and genetic survey
2011 Hoppenbrouwers, I. Genetic Epidemiological studies of multiple sclerosis
2011 Michels, M. Hypertrophic Cardiomyopathie. Pathophysiology, Genetics and invasive treatment 
2010 De Jong, E.M. Mind the gap. Clinical and molecular-genetic studies in esophageal atresia 
2010 Hoedemakers, Y.M. Genetic aspects and family studies of noncompaction and hypertrophic cardiomyopathy 
2010 Levenga, G.J. Experimental approaches towards therapeutic intervention for fragile X syndrome 
2010 Mensink, H. Tumor heterogeneity in uveal melanomas 
2010 Schuur, M. Genetic determinants of cognitive function and age-related brain changes 
2009 Di Fonzo, A. The role of LRRK2 in Parkinson’s disease 
2009  Liu, F. Methodological approaches to study the genetics of dementia and cognitive function 
2009 Lodder, E.  Keeping Sonic Hedgehog under the thumb, genetic regulation of limb development 
2009 Riedijk, S. Burdening care. A study on informal caregivers of frontotemporal dementia patients 
2009 Wessels, M.W. Genetics of congenital heart malformations 
2009 Zillikens, M.C. The interplay of genes and diet in metabolic diseases and aging 
2008 Berends, A. Vascular related pregnancy complications: Genetics and remote cardiovascular risk 
2008 Brouwer, J. R.  The Molecular basis of FXTAS. Rotterdam 
2008 Despriet, D Genetics of age-related macular degeneration. New insights and perspectives. 
2008 Lopez Leon, S. Genetic Determinants of Depression
2008 Van Gils, W. Molecular prognostic markers in uveal melanoma: Expression profiling and genomic studies 
2007 Gonzalez Zuloeta Ladd, A.M. Genetic determinants of breast cancer 
2007 Isaacs, A. Genetic Epidemiology and Lipids: A pattern so grand and complex 
2007 Klaassens, M. Genetic factors in the etiology of congenital diaphragmatic hernia 
2007 Sie, M.P.S. Genetic determinants of arterial stiffness. Results from the Rotterdam Study. 
2007  Van Rijn, M.J.E. Dissecting the genetics of stroke 
2007  Van ‘t Padje, S. Zebrafish as a model to study human disease. Functional studies of the FXR proteins 
2006 Arias Vásquez, A. A genetic-epidemiologic study of Alzheimer’s disease 
2006  Hagemans, M. Pompe disease in children and adults: natural course, disease severity and impact on daily life 
2006  Pardo Cortes, L.M. Genetic study of cognitive function 
2006  Van Oostrom, I. Family matters. Adjustment to genetic cancer susceptibility testing 
2006  Yazdan Panah, M. Genetic determinants of macrovascular complications and mortality in type 2 diabetes 
2005 Brooks, A. Genetics of Syndromic and Non-Syndromic Hirschsprung Disease 
2005 Majoor-Krakauer, D.F. Genetic Epidemiology of Amyotrophic Lateral Sclerosis 
2005  Reis, S.A. Sculpting the brain: the role of FMRP in synaptic plasticity 
2005  Sancak, O. Tuberous Sclerosis Complex: Mutations, Functions and Phenotypes 
2005  Sayed-Tabatabaei, F.A. ACE and Atherosclerosis: pieces of the puzzle 
2005 Van Zutven, L.J.C.M. Cryptic chromosome abnormalities in actue leukemia. Identification and detection. 
2005 Wagner, A. Molecular and clinical dilemmas 
2004 Bertoli Avella, A.M. Chasing genes in Alzheimer’s and Parkinson’s disease 
2004 de Heer, I. M. Saethre-Chotzen syndrome. Craniofacial anomalies caused by genetic changes in the TWIST 
2004 Kamphoven, J. Pompe’s disease. The mouse as model in the development of enzyme therapy 
2004 Schut, A.F. In search of cardiovascular risk genes 
2004 Sleegers, K. Genetic susceptibility to Alzheimer’s disease 
2004 Van Dooren, M.F. Congenital diaphragmatic hernia. The importance of genetic and environmental factors 
2004 Van Herpen, E. Tau on the Map: the role of mutations in FTDP-17
2004 Winkel, L. Enzyme therapy in non-classic Pompe’s disease 
2003 Bonifati, V. Autosomal recessive, early-onset Parkinson’s disease 
2003 Dekker M.C.J. A genetic-epidemiologic study of Parkinson’s disease 
2003 del Pilar, M.M. GM1 gangliosidosis and galactosialidosis. Pathology and therapy 
2003 Galjaard, R.J. Mapping studies of congenital limb anomalies 
2003 Meijers-Heijboer, E.J. Breast cancer. Predisposing genes & their clinical implications 
2003 Van den Hout, J.M.P. Enzyme therapy in infantile Pompe’s disease. A clinical study on the effect of recombinant human alpha-glucosidase produced in the milk of transgenic rabbits 
2003 Verhoog, L. Clinical genetic and oncological aspects of the hereditary breast cancer genes, BRCA1 and BRCA2 
2002 Bakker-van Kempen, K. E Mouse models for the fragile X syndrome 
2002 Rizzu, P. Mutations in frontotemporal dementia linking tau to neurodegeneration 
2002 Van Baren, M.J. Thumbs up. Limb mutants elucidating mechanisms of development 
2002 Van den Berg, C.D.F. Quality and reliability of prenatal cytogenetics 
2001 Bontekoe, C. J. M. CGG repeat instability and FXR proteins 
2001 Chiurazzi, P. Origin and reactivation of the fragile X gene 
2001 Lodder, L.N. Dealing with the risk for hereditary breast and ovarian cancer. A prospective study on psychologial consequences of choices on genetic testing, surveillance an prophylactic surgery 
2001 Roks, C.C.M.A. Alzheimer’s disease. A genetic epidemiologic approach 
2001 Vaessen, N. Genetic determinants of diabetes and vascular complications. A population-based approach 
2001 Verhoef, S. Clinical and Molecular Genetics of Tuberous Sclerosis Complex 
1999 Bijvoet, A. G. A. Therapy for glycogen storage disease type II. Acid α-gludosidase production in milk and enzyme replacement therapy in a mouse model 
1999 Havelaar, A. Lysosomal membrane transport proteins and their significance in human genetic disease 
1999 Heus, H.C. Congenital limb malformations. A study of mice and man. Rotterdam 
1999  Tamanini, F. The role of the FMR1 protein involved in fragile X syndrome 
1999  Van den Eijnde, S.M. Apoptosis and Annexin V. 
1999  Van der Spoel, A.C. Protective protein/cathepsin A, neuraminidase and ß-galactosidase: interacting enzymes involved in lysosomal disorders 
1998 Samrén, B. Maternal epilipsy and pregnancy outcome. A population based study 
1998 Stevens, M. Fronto-temporal dementia. A clinical and genetic-epidemiological study 
1998 Van Slegtenhorst, M.A. Tuberous Sclerosis Complex. Gene identification and characterisation.
1997 Cnossen, M. H. Neurofibomatosis type 1. Clinical and molecular genetic study. 
1997 De Vries, L.B.A. The fragile X syndrome. Clinical, genetic and large scale diagnostic studies among mentally retard individuals. 
1997 Dudok de Wit, A.C. To know or not to know. The psychological implications of presymptomatic DNA testing for autosomal dominant inheritable late onset disorders. 
1997 Zguricas, J. Triphalangeal thumb. A study of congenital hand malformation. 
1996 De Graaff, E. The fragile X syndrome. Complex behaviour of a simple retreat 
1996 Verheij, C. Characterization of the FMR1 protein involved in the fragile X syndrome 
1995 Hu, P. The molecular basis of carbonic anhydrase II deficiency 
1995 Janssen, L.A.J. Locus heterogeneity and the molecular basis of Tuberous Sclerosis 
1995 R. Willemsen Gaucher disease. An immunoelectron microscopic and biochemical study. 
1994 Verkerk, J.M.H. The molecular basis of the fragile X syndrome. Expansion of a trinucleotide repeat, a new mutational mechanism. 
1993 Hermans, M.M.P. Structural and functional analysis of lysosomal α-glucosidase in relation to glycogen storage disease type II. 
1993 Heutink, P. Gene mapping of complex disorders. Gilles de la Tourette syndrome and hereditary paragangliomas. 
1993 Horst, G.T.J. v.d. Identification and characterization of lysosomal neuraminidase 
1993 Tibben, A. What is knowledge but grieving? On psychological effects of presymptomatic DNA-testing for Huntington’s disease. 
1993 Wisselaar, H.A. Posttranslational modifications and intracellular transport of lysosomal α-glucosidase and sucrase-isomaltase. 
1992 Omtzigt, J.G.C. Epilepsy, Antiepileptic drugs, and birth defects. 
1991 Hoefsloot, L.H. Glycogenosis Type II. Cloning and Characterization of the human lysosomal α-glucosidase gene. 
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