منابع مشابه
The first Chinese Pierson syndrome with novel mutations in LAMB2.
BACKGROUND Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene. METHODS A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. RESULTS Two novel mutations were identified, C757fsX767 and P141...
متن کاملIs I T Time to Lay the Sleeper Effect to Rest ? ' Paulette
The "sleeper effect" has been defined as a delayed increase in the persuasive impact of a communication from a source low in credibility. This effect failed to appear in the present series of seven replications (total N = 656) of a sleeper effect experiment. However, the effectiveness of communications attributed to a source high in credibility did significantly decrease with passage of time wh...
متن کاملThe small slope approximation reflection coefficient for scattering from a "Pierson-Moskowitz" sea surface
Firstand second-order reflection coefficients are presented for the small slope approximation. The first-order reflection coefficient is identical to the Kirchhoff, or physical optics, result, and the secondorder reflection coefficient reduces to those of perturbation theory and the Kirchhoff approximation in the appropriate limits. Numerical results are obtained for acoustic or TE-polarized el...
متن کاملUrban and rural policies and the climate change issue: the French experience of governance SANDRINE MATHY
This article describes and analyses each level of governance relevant to address climate mitigation within France. This refers either to climate policies or to measures adopted for other reasons but which impact on greenhouse gas (GHG) emissions. The first part describes the French context related to GHG emissions to emphasize the importance of taking into account local specificities when consi...
متن کاملA novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
BACKGROUND Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Afrika Focus
سال: 1990
ISSN: 2031-356X,0772-084X
DOI: 10.21825/af.v6i3-4.18117