Projectenlijst per vakgebied



Hieronder ziet u een lijst van projecten behorende tot een bepaald vakgebied. Gebruik de bovenstaande keuzelijst om projecten van een ander vakgebied te tonen.

Het is ook mogelijk om te zoeken op trefwoord.

Klik op de titel van het project voor meer informatie.

 

A search for novel genes causing familial hypercholesterolemia on the former island of Urk

Researchers
Prof. dr. T.P.W. Kamphuisen
dr. J.A. Kuivenhoven
J. Balder

Keywords:
(medical)genetics familial hypercholesterolemia

Cardiac care in families with an inherited heart disease: how to handle? Zinnige(r) zorg voor families met erfelijke hartziektes

Researchers
Prof. R.A. de Boer
Prof. I.M. van Langen
mw I (Imke) Christiaans

Keywords:
genetics cardiomyopathy health care evaluation

Characteristics of breast and ovarian cancer in women with a PALB2-mutation

Researchers
Prof. dr. G.H. de Bock
I.A.S. Stroot

Keywords:
oncological epidemiology PALB2 mutation clinical genetics

Chemical Correction of FVII Mutation

Researchers
prof.dr. A.S.S. Doemling
dr. M.R. Groves

Keywords:
hemophilia factor VIII crystallography

Chemical correction of the R175C p53 missmutation

Researchers
prof.dr. A.S.S. Doemling
dr. M.R. Groves

Keywords:
p53 missmutation chemical correction novel cancer drug

Colitis ulcerosa en de ziekte van Crohn:onderzoek naar genetische en omgevings risicofactoren

Researchers
prof. dr. G. Dijkstra
prof. dr. R.K. Weersma

Keywords:
epidemiology ulcerative colitis Crohn's disease

De waarde van genetische diagnostiek (next-generation sequencing) bij jonge patiënten met nierfalen

Researchers
Dr. M.H. de Borst
drs. A. de Haan

Keywords:
(medical)genetics Chronic Kidney Disease hereditary kidney disease

De ziekte van Von Hippel-Lindau: genotype–fenotype correlatie?

Researchers
Drs. C. Frantzen

Keywords:
Von Hippel-Lindau erfelijk tumorsyndroom

Deciphering the role of STAP1 in cholesterol metabolism

Researchers
Prof. dr. T.P.W. Kamphuisen
dr. J.A. Kuivenhoven
J. Balder

Keywords:
knockout mouse functional genetics (medical)genetics

Drosophila as model organism for neurodegeneration and aging

Researchers
prof. dr. O.C.M. Sibon

Keywords:
ageing neurodegenerative diseases Drosophila

Duty to recontact in clinical genetics: an e-health solution?

Researchers
prof. dr. A.V. Ranchor
Prof. I.M. van Langen
Drs. T.F. Halbersma-Konings
M. Plantinga

Keywords:
e-health (medical)genetics

Essential tremor in families

Researchers
prof. dr. M.A.J. de Koning-Tijssen
Dr. A.M.M. van der Stouwe
drs. C.S.J. Everlo

Keywords:
genetics Essential tremor Family history

Evidence-based information on rare chromosomal microdeletion and –duplication syndromes for parents and doctors

Researchers
dr. M.L. Haadsma

Keywords:
child health chromosome chromosomal aberration

Experiences of pregnant women and their partners with prenatal emergency diagnostics by means of genetic testing (prenatal whole exome sequencing)

Researchers
prof. dr. A.V. Ranchor
Prof. I.M. van Langen
J. El Mecky

Keywords:
prenatal diagnostics patient experiences genetic testing

Functional characterization of genetic susceptibility variants of Celiac disease

Researchers
V. Kumar
dr. S. Withoff
prof. dr. C. Wijmenga

Keywords:
transcription factor celiac disease autoimmune disease EMSA ChIP assay

Genetic causes of hypoplastic left heart syndrome

Researchers
prof. dr. R.H. Sijmons
dr. C.C. van Diemen
M. Kerstjens

Keywords:
cardiogenetics hypoplastic left heart syndrome

Genetics in Parkinson's disease

Researchers
prof. dr. T. van Laar
Dr. F. Vansenne

Keywords:
(medical)genetics Parkinson's disease

Genetics of asthma: the role of Protocadherin-1 in airway epithelial integrity and function.

Researchers
M.C. Nawijn

Keywords:
asthma functional genetics bronchial epithelium

Genetische diagnostiek bij plotse hartdood en idiopathisch kamerfibrilleren

Researchers
mw I (Imke) Christiaans
dhr JDH (Jan) Jongbloed

Keywords:
genetics

How do tumor cells survive genomic instability?

Researchers
dr. M.A.T.M. van Vugt
Dr. R.S.N. Fehrmann

Keywords:
breast cancer genomic instability bio-informatics

Identification of rare genetic variants contributing to the development of childhood-onset IBD-PSC using parent-offspring trios (part 2)

Researchers
Dr. P.F. van Rheenen

Keywords:
RNA-sequencing

Illustrating the role of microbiome in human health

Researchers
Dr. J. Fu
Prof. M.H. Hofker
D.P.Y. Koonen

Keywords:
metabolism bioinformatics metagenomics

Inducing regeneration through manipulation of Wnt signaling

Researchers
dr. P.M. Weissert
Prof. dr. E.V. Berezikov

Keywords:
stem cells regeneration Wnt signaling

Interactions between CNS and immune system in neurodegenerative diseases.

Researchers
P.F. Dijkers

Keywords:
Drosophila Alzheimer's disease Genetic screens

Investigating the role of lincRNAs in autoimmune diseases

Researchers
dr. S. Withoff
V. Kumar
prof. dr. C. Wijmenga

Keywords:
RNA celiac disease autoimmune disease

Investigating the role of miRNAs in autoimmune diseases

Researchers
dr. S. Withoff
V. Kumar
prof. dr. C. Wijmenga

Keywords:
microRNA miRNA celiac disease autoimmune disease non-coding RNA

Liver disease and Next generation sequencing: a solution to the diagnostic problem?

Researchers
dr. K.E. Niezen-Koning
dr. T.J. de Koning

Keywords:
genetics liver metabolic diseases

Long non-coding RNA in liver disease

Researchers
dr. A.J.A. van de Sluis
Dr. J. Fu
Prof. M.H. Hofker

Keywords:
genomics molecular genetics cardiometabolic risk

Medical software facilitating earlier diagnosis of rare diseases by supporting pattern recognition: a clinical validation study.

Researchers
Dr. T.G.J. Derks

Keywords:
inherited metabolic diseases glycogen storage diseases

Microbiome analysis in gastrointestinal diseases

Researchers
prof. dr. C. Wijmenga
dr. S. Zhernakova

Keywords:
genetics microbiome gut

Predictive models for radiation-induced side effects in head and neck cancer based on single nucleotide polymorphisms (SNP)

Researchers
Dr. A.P.G. Crijns

Keywords:
Head and neck cancer prediction modeling Single Nucleotide Polymorphisms (SNP)

Prevalence of X-linked hypophospatemic rickets (XLH) in the Netherlands and the relation between genotype and phenotype in children.

Researchers
dr. P. Rump
Dr. A.M. Boot

Keywords:
hypophospatemic rickets

Proteogenomics analysis of COPD patient derived fibroblast to reveal molecular mechanism of COPD development

Researchers
dr. P.L. Horvatovich
dr. M. van den Berge
dr. V. Guryev
dr. H.P. Permentier

Keywords:
COPD proteomics genetics

Regulation of aging and age-related disease by transcription factors, chromatin states, and the epigenome

Researchers
dr. C.G. Riedel

Keywords:
epigenetics transcriptional regulation aging

Screening future parents for serious diseases in the fertility clinic: an exploration of views of future parents and fertility doctors

Researchers
Prof. I.M. van Langen
M. Plantinga

Keywords:
fertility treatment Genetic screening ethical issues

Somatic mutations in peripheral blood of healthy individuals (clonal hematopoiesis); clinical implications and relation to ageing manifestations of the hematopoietic system

Researchers
dr. G.A. Huls
I.A. van Zeventer

Keywords:
leukemia hematopoiesis mutations

The airway epithelium in asthma susceptibility: towards a cure for asthma.

Researchers
Prof. dr. G.H. Koppelman

Keywords:
Mouse models Asthma genes airway epithelium

The incidence of contralateral breast cancer in women with a BRCA1/2 mutation: the role of family history

Researchers
Prof. dr. G.H. de Bock
L. Jansen
Dr. J.C. Oosterwijk
Dr. B. van der Vegt

Keywords:
breast cancer BRCA1/2 Personalized medicine

The outcomes of ten year follow-up of relatives at risk for sudden death due to dilatation/ dissection of the aorta: time for improvement?

Researchers
Prof. I.M. van Langen
drs. K. Nieuwhof
Dr. E. Birnie

Keywords:
Outcomes Relatives Aorta

The role of noncoding RNAs in B cell lymphoma

Researchers
dr. A. van den Berg
dr. J.L. Kluiver

Keywords:
Long non-coding RNAs miRNAs Regulating networks

Unraveling the causative genes – and pathways - for autoimmune diseases

Researchers
V. Kumar
dr. S. Withoff
prof. dr. C. Wijmenga

Keywords:
pathway analysis celiac disease autoimmune disease gene enrichment T cell genes

Unraveling the genetic and biological pathways of spinocerebellar ataxia

Researchers
Dr. D.S. Verbeek

Keywords:
neurodegeneration exome sequencing human genetics

Unsolved cardiogenetic cases. Genetisch diagnostisch management van onopgeloste patiënten met een erfelijke hartziekte.

Researchers
mw I (Imke) Christiaans
dhr JDH (Jan) Jongbloed

Keywords:
genetics Sequencing cardiomyopathy

Which syndromes are associated with paediatric dilated cardiomyopathy (DCM) and how to recognize these? A systematic review of the literature.

Researchers
Prof. I.M. van Langen
Drs. J.C. Herkert
Prof. M.P. van den Berg

Keywords:
pediatric cardiology cardiogenetics dilated cardiomyopathy

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