131 search results for “klinefelter syndrome” in the Public website
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Efficacy of Self-management training in adolescents and adults with Klinefelter syndrome (XXY)
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psychophysiology indicators of social cognition and emotion in adults with Klinefelter syndrome
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Genetic syndromes
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Kimberly KuiperFaculteit der Sociale Wetenschappen
k.c.kuiper@fsw.leidenuniv.nl | +31 71 527 6719
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Language and self-regulation in XXY
The role of language in self-regulation and social behavior in children with an extra X chromosome
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XXY versus autism: evidence from neuroimaging
Brain development in children with an extra X chromosome as compared to children with autism: evidence from MRI
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Programme
The programme of the 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. International Workshop theme: 'A life-course perspective'
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Genetic risk & atypical development: 22q11 Syndrome
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3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY
Conference, Workshop
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Sophie van RijnFaculteit der Sociale Wetenschappen
srijn@fsw.leidenuniv.nl | +31 71 527 2727
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Local Knowledge Syndrome
Local Knowledge Syndrome and Donor-Promoted Public Sector Reforms in Developing Countries. Effective development often fails because relief organizations don't study the local knowlegde and problems, says Moosa Elayah. A Local Bank of Knowledge can be the answer.
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Alice in Wonderland-syndrome
FSW Professor Jan Dirk Blom has written a book on Alice in Wonderland syndrome. This is the first scientific book on this rare disorder, which was first described in 1955 by the British psychiatrist John Todd. Todd was inspired by the famous book by Lewis Carroll, in which Alice experiences all kinds…
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Video's
On this digital video wall, you can find the videos provided by several attendees of the XY workshop 2022.
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Venue, accommodation and travel
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY will be held at The Academy Building, Rapenburg 73, Leiden. It is situated in the city center, close to hotels, restaurants and attractions.
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TRIXY Center of Expertise
TRIXY is a national Center of Expertise, in which clinical professionals and expert researchers work together to improve knowledge and clinical care for children with X and Y chromosome trisomies.
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Registration
Registration is open.
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Abstracts
We warmly welcome late abstracts for Poster Communications! Late abstracts submission closes on the 1st of August 2022.
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Studies on molecular basics of metabolic syndrome in zebrafish
The research described in this thesis has, using the zebrafish as a model system, shed new light on the intricate relationship between TB and DM2, in particular on the role of leptin, SHP-1 and glucocorticoids.
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Noonan and LEOPARD syndrome in zebrafish: molecular mechanisms and cardiac development
Promotor: Prof.dr. J. den Hertog
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Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients
Netherton Syndrome (NTS) is a rare genetic skin disease caused by mutations in the serine protease inhibitor Kazal-type 5 gene, which encodes the lympho-epithelial Kazal-type-related inhibitor. NTS patients have a profound impaired skin barrier function. Because SC lipids play a crucial role in the…
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Neurofibromatosis Type I
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Virtual children help prevent withdrawal syndrome in real children
When children wean off from heavy medication, they often experience withdrawal symptoms. The severity of these symptoms is often difficult to predict. Pharmacologist Bas Goulooze developed a computer model to determine the best weaning strategy for each child. His research has now been published in…
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The developing brain and behaviour
The more opportunities a child has to learn and develop, the stronger his or her future position in society. Leiden University investigates how the brain picks up information, and how learning processes can be influenced positively.
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Scientists find strong evidence that wasting syndrome is the same for all organisms
An interdisciplinary team of Leiden researchers has discovered that wasting syndrome, a severe byproduct of tuberculosis, is the same for all humans and animals studied. The discovery offers new opportunities to investigate the still insufficiently understood condition. The scientists also developed…
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Jan Dirk BlomFaculteit der Sociale Wetenschappen
j.d.blom@fsw.leidenuniv.nl | +31 71 527 3857
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Preclinical validation of putative targets in cardiovascular and metabolic disease
Cardiovascular disease is the number one cause of death worldwide. The most important risk factor for developing this disease is high cholesterol levels in the blood.
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Twin-twin transfusion syndrome
PhD defence
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Stephanus HuijbregtsFaculteit der Sociale Wetenschappen
shuijbregts@fsw.leidenuniv.nl | +31 71 527 1723
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Neurodevelopmental risks in young children with an extra X or Y chromosome
This longitudinal study is focused on neurodevelopmental problems in young children with XXY, XXX and XYY, aged 1 to 6 years.
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Topic: Persistent physical symptoms
Persistent somatic symptoms are long term symptoms that lack a clear medical explanation. These symptoms have a high prevalence where most people know someone who experiences such symptoms or they experience such symptoms themselves. Symptoms can vary greatly in and between people. While one person…
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Functions of leptin in tuberculosis and diabetes: multi-omics studies across species
In this thesis, I study 1) metabolic alterations in tuberculosis related to wasting syndrome in human patients as well as in rodent and fish animal models. 2) effects of the mutation of the leptin gene on cachexia and diabetes in rodent and zebrafish animal models.
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Development of innovative engineered models for viral diseases
A main goal of MSBB research is to address the major bottle-necks in combatting viral diseases: the lack of experimental models that are representative of human pathology and are cost effective and versatile. Viral diseases such as those that cause viral hemorrhagic syndromes or severe acute respiratory…
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Projects
Research projects
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Mast cells as immune regulators in atherosclerosis
Cardiovascular syndromes are the major cause of death in Western societies.
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Research
Through metabolism, biochemical processes give rise to the complexity of life. Acquired and inborn errors in metabolism underlie many diseases occurring in man. The challenge for present day medical biochemistry is to find, and integrate, pieces of information at molecular, cell and organismal level…
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Prediction of outcome in Autoimmune Hepatitis and Variant syndromes
PhD defence
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Novel pharmacometric techniques to quantify the pharmacodynamics of analgesics
The overarching clinical aim of this thesis was to improve pharmacological pain management by characterizing the pharmacodynamics of analgesics.
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Studies on molecular basics of metabolic syndrome in zebrafish
PhD defence
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Imaging of the cardiorenal syndrome and visceral fat
PhD defence
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Determinants of and Interventions in Chronic Fatigue.
What are the most important perpetuating factors of chronic fatigue and chronic fatigue syndrome, and which interventions are effective in influencing these factors?
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Fundamental and translational medical biochemistry
Through metabolism, biochemical processes give rise to the complexity of life. Acquired and inborn errors in metabolism underlie many diseases occurring in man. The challenge for present day medical biochemistry is to find, and integrate, pieces of information at molecular, cell and organismal level…
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What is Designing Your Life?
Desinging Your Life helps students at Leiden University to design their life path and face the future with confidence. On this website, you find all you need to know about your Designing Your Life opportunities in Leiden.
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Activity-based protein profiling of diacylglycerol lipases
Promotor: H.S. Overkleeft, Co-promotor: M. van der Stelt
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Genetic and clinical aspects of inherited syndromes associated with adenomatous polyposis
PhD defence
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Sex, quality of life and brain function in Complex Regional Pain Syndrome
PhD defence
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Magnetic Resonance Imaging of the Adult Zebrafish
Zebrafish is an excellent model organism for studying various human diseases. Due to opaqueness of the adult phase, in vivo studies are restricted to early embryonic stages. This raises the need for rapid sensitive and non-invasive in vivo imaging methods to follow developmental processes, not only…
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Discovery of novel inhibitors to investigate diacylglycerol lipases and α/β hydrolase domain 16A
Promotor: H.S. Overkleeft, Co-promotor: M. van der Stelt
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Restructuring Classical Music
How can classical music be restructured while still retaining the core of what we love about its repertoire and our ability to share it with audiences, while coming up with ways of making it financially viable.
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The Role of Linker DNA in Chromatin Fibers
The genetic information of all living organisms is contained in their DNA. Cells modify the degree of DNA compaction by epigenetics, which largely determines what genes are read out and which genes are transcriptionally silent.
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Bioengineering and biophysics of viral hemorrhagic fever
Viral hemorrhagic fever (VHF) is a group of acute diseases caused by highly infectious viruses including Ebola, Lassa, Dengue viruses. Its high mortality rate poses high risk to public health, however, studies on VHF have been hampered due to the non-availability of proper models and incomplete knowledge…