19 results
The purpose of this study is to find out which common problems occur in the HME patient population. Furthermore the study will investigate which factors are associated with the observed problems. This is barely investigated in the current literature…
The aim of our study is to further elucidate the role of genetic factors in the pathogenesis of CTS by genetic and functional research.-Objective 1: Unravel the mutational spectrum of genes in patients with idiopathic CTS-Objective 2: Evaluation of…
In one FOA family we have detected a deleterious mutation in a compelling gene which co-segregates with the FOA phenotype in the family. This mutation is, therefore, is likely to be causal to the early onset OA. The objective of the study is:a) To…
The primary objective is to identify (epi)genetic and environmental disease modifying factors that contribute to the variable clinical phenotype of FSHD, in order to support the future development of new treatment strategies for FSHD. The secondary…
the aim of the current research project is to investigate the effect of the mirror box illusion on movement performance, neuromuscular activation and proprioception in children with SHCP. The following objectives are: to determine the effect of the…
Primary Objective: To determine the prevalence of endo- and extranasal deformities, problems with nasal functioning and satisfaction with nasal appearance in patients with TCS.Secondary Objective: To adjust and improve the treatment of patients with…
1. Detection of the gene causing Primrose syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Primrose syndrome.3. Increase our understanding of regulation of heterotopic human calcium depositions
To investigate the effect of different spinal mechanical loading conditions on (pre-existent) rotation in the normal nonscoliotic human spine in vivo.
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
Long term follow up is lacking in this database. A follow up study in which patients in the database are invited to a follow up exam and imaging would be a much more complete picture of the development of TLK in achondroplasten.
The primary objective is to describe the clinical characteristics of infantile FSHD. The secondary objectives are: - To determine the incidence and prevalence of infantile FSHD- To describe the genetic characteristics of infantile FSHD. - To…
Primary Objective: Further delineation of the natural history and phenotype/genotype relation of vEDS pateints with a heterozygous pathogenic variant in the COL3A1 gene. Secondary Objectives: 1. reasons for referral for genetic analysis; 2. all…
The primary objective of this study is to further discribe the natural course and clinical characteristic of infantile FSHD.The secondary objectives are: - To identify (epi)genetic and environmental disease modifying factors that contribute to…
Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial readiness for FSHD research.
The primary objective is to determine if physical fatigability is present in infantile and young adult patients with FSHD.The secondary objectives are to determine if there is an association between fatigability ando Disease severityo Muscle…
Clinical, biochemical and radiological characterization of Van Buchem Disease
The goal of this study is to perform an additional follow-up visit on the FSHD-FOCUS cohort one year after the five year follow-up visit to assess the responsiveness over one and a half year, a reasonable timeframe for a clinical trial, of highly…
Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial preparedness for FSHD research.
The aim of this study is to evaluate the added benefit of integrating genetic information and state-of-the-art phenotypic information (clinical measurements) of the musculoskeletal system in groups of patients with conditions presenting with or at…