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Entries: 1-10  
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Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
Authors: Gremer, Lothar; Merbitz-Zahradnik, Torsten; Dvorsky, Radovan; Cirstea, Ion C.; Kratz, Christian Peter; Zenker, Martin; Wittinghofer, Alfred; Ahmadian, Mohammad Reza
Date of Publication (YYYY-MM-DD): 2010-10-14
Title of Journal: Human Mutation
Volume: 32
Issue / Number: 1
Start Page: 33
End Page: 43
Sequence Number of Article: 1
Document Type: Article
ID: 532656.0
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2010-10-03
Title of Journal: Nature Genetics.
Volume: 42
Issue / Number: 11
Start Page: 1021
End Page: 1026
Document Type: Article
ID: 532578.0
 
Full text / Content available
A restricted spectrum of NRAS mutations causes Noonan syndrome
Authors: 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
Date of Publication (YYYY-MM-DD): 2010-01
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 1
Start Page: 27
End Page: 29
Sequence Number of Article: 1
Document Type: Article
ID: 442399.0
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
Authors: Haensel, Jennifer; Kohlschmidt, Nicolai; Pitz, Susanne; Keilmann, Annerose; Zenker, Martin; Ullmann, Reinhard; Haaf, Thomas; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 10
Start Page: 2236
End Page: 2240
Document Type: Article
ID: 472539.0
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Authors: Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M.; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 420
End Page: 425
Document Type: Article
ID: 411070.1
 
Full text / Content available
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Authors: Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Von Schnakenburg, Christian; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2007-06-23
Title of Journal: Journal of Medical Genetics
Volume: 44
Start Page: 651
End Page: 656
Sequence Number of Article: 1
Document Type: Article
ID: 324398.0
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia
Authors: Kratz, Christian P.; Niemeyer, Charlotte M.; Thomas, Christoph; Bauhuber, Susanne; Matejas, Verena; Bergsträsser, Eva; Flotho, Christian; Flores, Nikki J.; Haas, Oskar; Hasle, Henrik; van den Heuvel-Eibrink, Marry M.; Kucherlapati, Raju S.; Lang, Peter; Roberts, Amy E.; Starý, Jan; Strahm, Brigitte; Swanson, Kenneth D.; Trebo, Monika; Zecca, Marco; Neel, Benjamin; Locatelli, Franco; Loh, Mignon L.; Zenker, Martin
Date of Publication (YYYY-MM-DD): 2007-05
Title of Journal: Leukemia
Volume: 21
Issue / Number: 5
Start Page: 1108
End Page: 1109
Sequence Number of Article: 1
Document Type: Article
ID: 317102.0
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation
Authors: Van der Burgt, Ineke; Kupsky, William; Stassou, Stephani; Nadroo, Ali; Barroso, Cândida; Diem, Angelika; Kratz, Christian P.; Dvorsky, Radovan; Ahmadian, Mohammad Reza; Zenker, Martin
Date of Publication (YYYY-MM-DD): 2007-04-05
Title of Journal: Journal of Medical Genetics
Volume: 44
Issue / Number: 7
Start Page: 459
End Page: 462
Sequence Number of Article: 1
Document Type: Article
ID: 319951.0
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Authors: Zenker, Martin; Lehmann, Katarina; Schulz, Anna Leana; Barth, Helmut; Hansmann, Dagmar; Koenig, Rainer; Korinthenberg, Rudolf; Kreiss-Nachtsheim, Martina; Meinecke, Peter; Morlot, Susanne; Mundlos, Stefan; Quante, Anne S.; Raskin, Salmo; Schnabel, Dirk; Wehner, Lars-Erik; Kratz, Christian P.; Horn, Denise; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2007-02-01
Title of Journal: Journal of Medical Genetics
Volume: 44
Issue / Number: 2
Start Page: 131
End Page: 135
Document Type: Article
ID: 335005.0
 
Full text / Content available
Germline KRAS mutations cause Noonan syndrome
Authors: Schubbert, Suzanne; Zenker, Martin; Rowe, Sara L .; Böll, Silke; Klein, Cornelia; Bollag, Gideon; van der Burgt, Ineke; Musante, Luciana; Kalscheuer, Vera M.; Wehner, Lars-Erik; Nguyen, Hoa; West, Brian; Zhang, Kam Y. J.; Sistermans, Erik; Rauch, Anita; Niemeyer, Charlotte M.; Shannon, Kevin; Kratz, Christian P.
Date of Publication (YYYY-MM-DD): 2006-02-12
Title of Journal: Nature Genetics
Volume: 38
Issue / Number: 3
Start Page: 331
End Page: 336
Document Type: Article
ID: 307757.0
 
Full text / Content available
Entries: 1-10  
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