Schizophrenia is a common disorder with high heritability and a 10-fold increase in risk to
siblings of probands. Replication has been inconsistent for reports of significant genetic …

Abstract To determine which regions of chromosome 21 are involved in the pathogenesis of
specific features of Down syndrome, we analysed, phenotypically and molecularly, 10 …

Schizophrenia is a common disorder characterized by psychotic symptoms; diagnostic criteria
have been established 1. Family, twin and adoption studies suggest that both genetic and …

Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage.
The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD …

Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary
dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis …

Rationale: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections
and randomization of left–right body asymmetry. To date, autosomal recessive mutations have …

CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced
double-strand break DNA (DSB) at the UROS locus to model and correct congenital …

In this experiment, we induced muscular fatigue of ankle plantar-flexors to examine how it
deteriorates the regulation of bipedal quiet upright standing. Postural stability was assessed in …

The duplication of a specific region of chromosome 21 could be responsible for the main
features of Down syndrome. To define and localize this region, we analyzed at the molecular …

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by perturbed or absent
beating of motile cilia, which is referred to as Kartagener syndrome (KS) when associated …