Claudia Voigt

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Intervertebral discs from 82 consecutive operations on herniation and 59 autopsies (one case with generalized amyloidosis) were studied. Amyloid deposits observed in surgical and autopsy specimens increased with age in both series. Degenerative changes were related to age and to amyloid deposits in autopsy, but not in surgical cases. Calcium pyrophosphate(More)
BACKGROUND Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892). (More)
Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. The craniofacial abnormalities mainly consist of downslanting palpebral fissures, malar hypoplasia, micrognathia, external ear anomalies, and cleft palate. The preaxial limb defects are characterized by radial and(More)
We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and(More)
UNLABELLED A supervised nonlinear interpolation significantly improves the reliability of conversions from genetic distances to physical distances as compared with the linear ones. A webaccessible application was created that addresses this question with a graphical presentation that may be wrapped by local installations. MOTIVATION Genetic linkage maps(More)
The 4th Congress of Infectiologists of Bosnia-Herzegovina with international participation was held in Konjic, on 30. May to 02. June 2012. In addition to the prominent infectious disease experts from almost all university centers in B&H, the teachers at medical schools in Bosnia-Herzegovina, infectious disease specialists who work in health institutions in(More)
Patientenrettungen aus exponierter Lage stellen eine medizinisch wie technische Herausforderung dar. Die Arbeitssicherheit der beteiligten Einsatzkräfte steht hierbei im Fokus. Wir berichten von einem 52-jährigen Dachdecker mit Herzkreislaufstillstand in 14 m Höhe auf einer im Bau befindlichen Dachkonstruktion in einem Hinterhof. Trotz initialer ROSC(More)
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