10.1002/(SICI)1096-8628(19970502)70:1<24::AID-AJMG5>3.0.CO;2-R. PubMed Google Scholar Pincheira J, Bravo M, Santos MJ: G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X-ray irradiated lymphocytes. Clin Genet. 1998, 53: ...
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is a
Etiopathogenesis The etiopathogenesis of BVVL remains elusive. Two patients with BVVL have been screened for the mutations associated with common forms of spinal muscular atrophy (SMA), the survival motor neuron gene (SMA) and neuronal apoptosis inhibitory protein gene (NAIP), but these proved nega...
swelling and blistering on the face (Fig.1A), which subsequently spreads to the extremities (first on the extensor, then on the flexor surfaces) and to the buttocks. The trunk and abdomen are usually spared (Fig.1D, E).
[84]. It is worth noting that nearly one third of all the identifiedRECQL4mutations are splicing mutations (Fig.3), often not canonical,i.e. escaping detection by standard genomic analysis. In all cases in which we were able to analyse the transcripts, valuable information on the type of...
Flow chart. Full size image The study was approved by the Île-de-France IX Ethics committee Paris, France. Informed consent was obtained from all patients. The study adhered to Declaration of Helsinki guidelines. Data collection The demographic information (age, sex, and whether the NF1 was...
which may result in an underestimation of disease progression. While both scenario’s are artificial, these effects may balance each other to some extent. Statistical approaches with ERT use as a time-varying covariate (e.g. Cox regression) would also be worth studying in order to assess the ...
It is worth noting that the high concentration of Ag combined with its low market price (Figure A5) of 0.84 (EUR g−1) and the low concentration of Ru combined with its high market price of 15.5 (EUR g−1) form a similar level of participation in the stored value. Correspondingly,...
while the occurrence of bilateral cataract is not an obligatory sign ofRECQL4-positive patients. Identification of a second locus accounting for up to one third of clinically diagnosed RTS cases should confirm the locus heterogeneity of the syndrome directing the laboratory flow-chart towards screening...