An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Autor Abdollahpour, Hengameh, Alawi, Malik, Kortüm, Fanny, Beckstette, Michael, Seemanova, Eva, Komárek, Vladimír, Rosenberger, Georg, Kutsche, Kerstin
Vydáno v Eur J Hum Genet (2015)

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Autor Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael
Vydáno v Aging (Albany NY) (2020)

A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

Autor Knebel, Birgit, Kotzka, Jorg, Lehr, Stefan, Hartwig, Sonja, Avci, Haluk, Jacob, Sylvia, Nitzgen, Ulrike, Schiller, Martina, März, Winfried, Hoffmann, Michael M, Seemanova, Eva, Haas, Jutta, Muller-Wieland, Dirk
Vydáno 2013

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Autor Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane, Steiner, Bernhard, Wieczorek, Dagmar, Zenker, Martin, Kutsche, Kerstin
Vydáno 2009

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Autor Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Vydáno v Sci Rep (2015)

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Autor Klopocki, Eva , Schulze, Harald , Strauß, Gabriele , Ott, Claus-Eric , Hall, Judith , Trotier, Fabienne , Fleischhauer, Silke , Greenhalgh, Lynn , Newbury-Ecob, Ruth A. , Neumann, Luitgard M. , Habenicht, Rolf , König, Rainer , Seemanova, Eva , Megarbane, André , Ropers, Hans-Hilger , Ullmann, Reinhard , Horn, Denise , Mundlos, Stefan 
Vydáno 2007

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Autor Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, André, Sperling, Karl, Nothnagel, Michael
Vydáno v PLoS One (2016)

A restricted spectrum of NRAS mutations causes Noonan syndrome

Autor Cirstea, Ion C, Kutsche, Kerstin, Dvorsky, Radovan, Gremer, Lothar, Carta, Claudio, Horn, Denise, Roberts, Amy E, Lepri, Francesca, Merbitz-Zahradnik, Torsten, König, Rainer, Kratz, Christian P, Pantaleoni, Francesca, Dentici, Maria L, Joshi, Victoria A, Kucherlapati, Raju S, Mazzanti, Laura, Mundlos, Stefan, Patton, Michael A, Silengo, Margherita Cirillo, Rossi, Cesare, Zampino, Giuseppe, Digilio, Cristina, Stuppia, Liborio, Seemanova, Eva, Pennacchio, Len A, Gelb, Bruce D, Dallapiccola, Bruno, Wittinghofer, Alfred, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin
Vydáno 2009

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome

Autor Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco
Vydáno v Hum Mutat (2015)