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CHARGE syndrome is an autosomal dominant malformation syndrome caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent- to-child transmission of a CHD7 mutation, has been described. In some further cases, germline mosaicism has been(More)
Among the numerous targets which can be used for the development of vaccines against Pseudomonas aeruginosa we focused on the outer membrane proteins OprF and OprI. The C-terminal part of OprF from aa 190 to aa 350 was investigated for its conservation and its localization of B-cell epitopes. A hybrid protein which combines the protective epitopes of OprF(More)
A hybrid protein [Met-Ala-(His)6OprF190-342-OprI21-83] consisting of the mature outer membrane protein I (OprI) and amino acids 190 to 342 of OprF of Pseudomonas aeruginosa was expressed in Escherichia coli and purified by Ni2+ chelate-affinity chromatography. After safety and pyrogenicity evaluations in animals, four groups of eight adult human volunteers(More)
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
This overview reviews the current literature to compare the functional results after surgical and conservative treatment of patients with flail chest and multiple rib fractures. Regarding functional aspects, patients in the early phase after a thoracic trauma are those that benefit most from the stabilisation of the chest wall by internal fixation of the(More)
German cystic fibrosis patients were screened for mutations in exon 21 of the cystic fibrosis transmembrane conductance regulator gene by a non-radioactive variation of the single-strand conformation polymorphism technique. Asymetrie polymerase chain reaction amplification was used to produce single strands of exon-containing genomic sequences that were(More)
The knowledge on the determinants of oral health-related quality of life (OHQoL) is still fragmentary. The aim of this study was to examine the influence of different socio-economic, behavioral, and clinical variables on OHQoL in a cross-cultural patient sample in Germany and Canada. The study had a cross-sectional design. It was conducted at five(More)