14 Einträge gefunden

1. Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome

   1. Stark, Veronika
   2. Arndt, Florian
   3. Harring, Gesa
   4. Keyser, Britta
   5. von Kodolitsch, Yskert
   6. Kozlik-Feldmann, Rainer
   7. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
2. Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

   1. Rippe, Moritz
   2. De Backer, Julie
   3. Kutsche, Kerstin
   4. Mosquera, Laura Muiño
   5. Schüler, Helke
   6. Rybczynski, Meike
   7. Bernhardt, Alexander M

   2016 - Forschungsinformationssystem des UKE
3. The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

   1. Sheikhzadeh, Sara
   2. De Backer, Julie
   3. Gorgan, Neda Rahimian
   4. Rybczynski, Meike
   5. Hillebrand, Mathias
   6. Schüler, Helke
   7. Bernhardt, Alexander M

   2014 - Forschungsinformationssystem des UKE
4. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

   1. Sheikhzadeh, Sara
   2. Sondermann, Claudia
   3. Rybczynski, Meike
   4. Habermann, Christian R
   5. Brockstädt, Lars
   6. Keyser, Britta
   7. Kaemmerer, Harald

   2014 - Forschungsinformationssystem des UKE
5. Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes

   1. Hillebrand, Mathias
   2. Millot, Nathalie
   3. Sheikhzadeh, Sara
   4. Rybczynski, Meike
   5. Gerth, Sabine
   6. Kölbel, Tilo
   7. Keyser, Britta

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
6. Overexpression of Gremlin-1 in Patients with Loeys-Dietz Syndrome: Implications on Pathophysiology and Early Disease Detection

   1. Wellbrock, Jasmin
   2. Sheikhzadeh, Sara
   3. Oliveira Ferrer, Leticia
   4. Stamm, Hauke
   5. Hillebrand, Mathias
   6. Keyser, Britta
   7. Klokow, Marianne

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
7. FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

   1. Kuehne, Kristine
   2. Keyser, Britta
   3. Groene, Eike F
   4. Sheikhzadeh, Sara
   5. Detter, Christian
   6. Lorenzen, Victoria
   7. Hillebrand, Mathias

   2013 - Forschungsinformationssystem des UKE
8. High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

   1. Kathiravel, Ushanthine
   2. Keyser, Britta
   3. Hoffjan, Sabine
   4. Kötting, Judith
   5. Müller, Melanie
   6. Sivalingam, Sugirthan
   7. Bonin, Michael

   2013 - Forschungsinformationssystem des UKE
9. Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

   1. Lamp, Jessica
   2. Keyser, Britta
   3. Koeller, David M
   4. Ullrich, Kurt
   5. Braulke, Thomas
   6. Mühlhausen, Chris

   2011 - Forschungsinformationssystem des UKE
10. Glutaryl-Coenzym A Dehydrogenase-Defizienz: in vitro und in vivo Untersuchungen zu Pathomechanismen am Mausmodell (Mus musculus; Linnaeus, 1758) der neurodegenerativen Erkrankung

    1. Keyser, Britta

    2008 - E-Dissertationen der UHH - frei zugänglich
11. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

    1. Keyser, Britta
    2. Mühlhausen, Chris
    3. Dickmanns, Achim
    4. Christensen, Ernst
    5. Muschol, Nicole
    6. Ullrich, Kurt
    7. Braulke, Thomas

    2008 - Forschungsinformationssystem des UKE
12. Membrane translocation of glutaric acid and its derivatives.

    1. Mühlhausen, Chris
    2. Burckhardt, B
    3. Hagos, Y
    4. Burckhardt, G
    5. Keyser, Britta
    6. Lukacs, Zoltan
    7. Ullrich, Kurt

    2008 - Forschungsinformationssystem des UKE
13. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

    1. Keyser, Britta
    2. Glatzel, Markus
    3. Stellmer, Franziska
    4. Kortmann, Bastian
    5. Lukacs, Zoltan
    6. Kölker, Stefan
    7. Sauer, Sven W

    2008 - Forschungsinformationssystem des UKE
14. 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.

    1. Stellmer, Franziska
    2. Keyser, Britta
    3. Burckhardt, Birgitta C
    4. Koepsell, Hermann
    5. Streichert, Thomas
    6. Glatzel, Markus
    7. Jabs, Sabrina

    2007 - Forschungsinformationssystem des UKE