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Verena Kolbe
University of Hamburg
5Publications
2H-index
12Citations
Publications 5
Newest
#1Sina Renner (UHH: University of Hamburg)H-Index: 1
#2Helke SchülerH-Index: 4
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
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Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management. We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity. We identified 1 pathogen...
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#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Sina Renner (UHH: University of Hamburg)H-Index: 1
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 10 authors...
2 CitationsSource
#1Katja KlothH-Index: 3
#2Sina RennerH-Index: 1
Last.Georg RosenbergerH-Index: 15
view all 10 authors...
Source
#1Karen W. Gripp (Alfred I. duPont Hospital for Children)H-Index: 33
#2Verena Kolbe (UHH: University of Hamburg)H-Index: 2
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 4 authors...
1 CitationsSource
#1Karen W. Gripp (Alfred I. duPont Hospital for Children)H-Index: 33
#2Katia Sol-Church (Alfred I. duPont Hospital for Children)H-Index: 22
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 13 authors...
Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and neurologic abnormalities. More than 80% of patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype and less characteristic facial features. Most pathogenic HRAS...
9 CitationsSource
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