Search Results - "Lissewski, C."

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes by Kratz, C P, Franke, L, Peters, H, Kohlschmidt, N, Kazmierczak, B, Finckh, U, Bier, A, Eichhorn, B, Blank, C, Kraus, C, Kohlhase, J, Pauli, S, Wildhardt, G, Kutsche, K, Auber, B, Christmann, A, Bachmann, N, Mitter, D, Cremer, F W, Mayer, K, Daumer-Haas, C, Nevinny-Stickel-Hinzpeter, C, Oeffner, F, Schlüter, G, Gencik, M, Überlacker, B, Lissewski, C, Schanze, I, Greene, M H, Spix, C, Zenker, M

“…Background: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause…”
Get full text

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis by Boppudi, S., Bögershausen, N., Hove, H.B., Percin, E.F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P.B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M.R., Heindl, L.M., Zenker, M.

“…Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids,…”
Get full text

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome by Lorenz, Sybille, Lissewski, Christina, Simsek-Kiper, Pelin O, Alanay, Yasemin, Boduroglu, Koray, Zenker, Martin, Rosenberger, Georg

“…Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities,…”
Get full text

Clinical and molecular analysis of RASopathies in a group of Turkish patients by Şimşek-Kiper, PÖ, Alanay, Y, Gülhan, B, Lissewski, C, Türkyılmaz, D, Alehan, D, Çetin, M, Utine, GE, Zenker, M, Boduroğlu, K

“…Şimşek‐Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Çetin M, Utine GE, Zenker M, Boduroğlu K. Clinical and molecular analysis of patients…”
Get full text