Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome von Siegel, D.H., McKenzie, J., Frieden, I.J., Rauen, K.A.

Volltext

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development von Siegel, D.H., Mann, J.A., Krol, A.L., Rauen, K.A.

Volltext

HRAS and the Costello syndrome von Rauen, KA

Volltext

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis von Goodwin, AF, Oberoi, S, Landan, M, Charles, C, Groth, J, Martinez, A, Fairley, C, Weiss, LA, Tidyman, WE, Klein, OD, Rauen, KA

Volltext

Disruption of 3D Tissue Integrity Facilitates Adenovirus Infection by Deregulating the Coxsackievirus and Adenovirus Receptor von Anders, M., Hansen, R., R. -X. Ding, Rauen, K. A., Bissell, M. J., Korn, W. Michael

Volltext

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome von Champion, KJ, Bunag, C, Estep, AL, Jones, JR, Bolt, CH, Rogers, RC, Rauen, KA, Everman, DB

Volltext

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? von Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.

Volltext

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH von Klein, OD, Cotter, PD, Moore, MW, Zanko, A, Gilats, M, Epstein, CJ, Conte, F, Rauen, KA

Volltext

The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukaemia: A systematic review von Meyer, S. N., Vaughn, A., Li, Y., Studer, A. C., Rauen, K. A., Kiuru, M.

Volltext

Periventricular heterotopia associated with chromosome 5p anomalies von SHEEN, V. L, WHELESS, J. W, SHERR, E. H, BODELL, A, BRAVERMAN, E, COTTER, P. D, RAUEN, K. A, GLENN, O, WEISIGER, K, PACKMAN, S, WALSH, C. A

Volltext

Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth von Urban, J., Qi, L., Zhao, H., Rybak, I., Rauen, K.A., Kiuru, M.

Volltext

Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2 von Sanford, E.F., Bermudez‐Wagner, K., Jeng, L.J.B., Rauen, K.A., Slavotinek, Anne M.

Volltext

Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment von Yeh, E, Dao, D Q, Wu, Z Y, Kandalam, S M, Camacho, F M, Tom, C, Zhang, W, Krencik, R, Rauen, K A, Ullian, E M, Weiss, L A

Volltext

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors von Anastasaki, Corina, Estep, Anne L., Marais, Richard, Rauen, Katherine A., Patton, E. Elizabeth

Volltext

Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation von Korn, W M, Macal, M, Christian, C, Lacher, M D, McMillan, A, Rauen, K A, Warren, R S, Ferrell, L

Volltext

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes von Tartaglia, M, Cotter, PD, Zampino, G, Gelb, BD, Rauen, KA

Volltext

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation von Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

Volltext

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization von Klein, OD, Cotter, PD, Albertson, DG, Pinkel, D, Tidyman, WE, Moore, MW, Rauen, KA

Volltext

The RASopathies von Rauen, Katherine A

Volltext

Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review von Rauen, KA, Bitts, SM, Li, L, Golabi, M, Cotter, PD

Volltext