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Medientyp
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Autor/in
- Rosenberger, Georg
- Kutsche, Kerstin 12
- Kortüm, Fanny 6
- Gripp, Karen W 3
- Kolbe, Verena 3
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28 Einträge gefunden
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Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
- Nauth, Theresa
- Bazgir, Farhad
- Voß, Hannah
- Brandenstein, Laura I
- Mosaddeghzadeh, Niloufar
- Rickassel, Verena
- Deden, Sophia
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A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
- Gripp, Karen W
- Baker, Laura
- Robbins, Katherine M
- Stabley, Deborah L
- Bellus, Gary A
- Kolbe, Verena
- Nauth, Theresa
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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
- Kloth, Katja
- Renner, Sina
- Burmester, Gunter
- Steinemann, Doris
- Pabst, Brigitte
- Lorenz, Birgit
- Simon, Ronald
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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
- Meyer Zum Büschenfelde, Uta
- Brandenstein, Laura Isabel
- von Elsner, Leonie
- Flato, Kristina
- Holling, Tess
- Zenker, Martin
- Rosenberger, Georg
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René
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The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
- von Kodolitsch, Yskert
- Rybczynski, Meike
- Vogler, Marina
- Mir, Thomas S
- Schüler, Helke
- Kutsche, Kerstin
- Rosenberger, Georg
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αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
2015 - Forschungsinformationssystem des UKE - frei zugänglich -
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- Abdollahpour, Hengameh
- Alawi, Malik
- Kortüm, Fanny
- Beckstette, Michael
- Seemanova, Eva
- Komárek, Vladimír
- Rosenberger, Georg
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RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
2014 - Forschungsinformationssystem des UKE -
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
- Lorenz, Sybille
- Lissewski, Christina
- Simsek-Kiper, Pelin O
- Alanay, Yasemin
- Boduroglu, Koray
- Zenker, Martin
- Rosenberger, Georg
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Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
- Ramakers, Ger J A
- Wolfer, David
- Rosenberger, Georg
- Kuchenbecker, Kerstin
- Kreienkamp, Hans-Jürgen
- Prange-Kiel, Janine
- Rune, Gabriele M.
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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
- Gripp, Karen W
- Bifeld, Eugenia
- Stabley, Deborah L
- Hopkins, Elizabeth
- Meien, Stefanie
- Vinette, Kathy
- Sol-Church, Katia
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Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
- Kortüm, Fanny
- Chyrek, Magdalena
- Fuchs, Sigrid
- Albrecht, B
- Gillessen-Kaesbach, G
- Mütze, U
- Seemanova, E
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