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Entries: 1-10  
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NOA1 is an essential GTPase required for mitochondrial protein synthesis
Authors: Kolanczyk, Mateusz; Pech, Markus; Zemojte, Tomasz; Yamamoto, Hiroshi; Mikula, Ivan; Calvaruso, Maria-Antonietta; van den Brand, Mariel; Richter, Ricarda; Fischer, Bjoern; Ritz, Anita; Kossler, Nadine; Thurisch, Boris; Spoerle, Ralf; Smeitink, Jan; Kornak, Uwe; Chan, Danny; Vingron, Martin; Martasek, Pavel; Lightowlers, Robert N.; Nijtmans, Leo; Schuelke, Markus; Nierhaus, Knud H.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2011-01-01
Title of Journal: Molecular Biology of the Cell
Volume: 22
Issue / Number: 1
Start Page: 1
End Page: 11
Document Type: Article
ID: 538382.0
 
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
The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling
Authors: van Wijk, Nicole Verhey; Witte, Florian; Feike, Ann Carolin; Schambony, Alexandra; Birchmeier, Walter; Mundlos, Stefan; Stricker, Sigmar
Date of Publication (YYYY-MM-DD): 2009-12-11
Title of Journal: Biochemical and Biophysical Research Communications
Volume: 390
Issue / Number: 2
Start Page: 211
End Page: 216
Document Type: Article
ID: 456474.0
Mutations in GDF5 reveal a key residue mediating BMP
inhibition by NOGGIN
Authors: Seemann, Petra; Brehm, Anja; König, Jana; Reissner, Carsten; Stricker, Sigmar; Kuss, Pia; Haupt, Julia; Renninger, Stephanie; Nickel, Joachim; Sebald, Walter; Groppe, Jay C.; Plöger, Frank; Schmidt-von Kegler, Mareen; Walther, Maria; Gassner, Ingmar; Rusu, Cristina; Janecke, Andreas R.; Dathe, Katarina; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-11-26
Title of Journal: PLoS Genetics
Volume: 5
Issue / Number: 11
Start Page: e1000747
End Page: e1000747
Document Type: Article
ID: 456439.0
High-throughput sequencing of microdissected chromosomal regions.
Authors: Weise, Anja; Timmermann, Bernd; Grabherr, Manfred; Werber, Martin; Heyn, Patricia; Kosyakova, Nadezdaa; Liehr, Thomas; Neitzel, Heidemarie; Konrat, Kateryna; Bommer, Christiane; Dietrich, Carola; Rajab, Anna; Reinhardt, Richard; Mundlos, Stefan; Lindner, Tom H.; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2009-11-04
Title of Journal: European Journal of Human Genetics
Sequence Number of Article: ejhg.2009.196
Document Type: Article
ID: 460797.0
 
Full text / Content available
A gradient of ROR2 protein stability and membrane
localization confers brachydactyly type B or Robinow syndrome phenotypes
Authors: Schwarzer, Wibke; Witte, Florian; Rajab, Anna; Mundlos, Stefan; Stricker, Sigmar
Date of Publication (YYYY-MM-DD): 2009-11
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 21
Start Page: 4013
End Page: 4021
Document Type: Article
ID: 456438.0
Clinical Diagnostics with Semantic Similarity Searches in Ontologies.
Authors: Köhler, Sebastian; Schulz, Marcel H.; Bauer, Sebastian; Dölken, Sandra; Ott, Claus E.; Mundlos, Christine; Horn, Denise; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-10-01
Title of Journal: The American Journal of Human Genetics
Volume: 85
Issue / Number: 4
Start Page: 457
End Page: 464
Document Type: Article
ID: 447350.0
 
Full text / Content available
Skeletal abnormalities in neurofibromatosis type 1 : approaches to therapeutic options
Authors: Elefteriou, Florent; Kolanczyk, Mateusz; Schindeler, Aaron; Viskochil, David H.; Hock, Janet M.; Schorry, Elizabeth K.; Crawford, Alvin H.; Friedman, Jan M.; Little, David; Peltonen, Juha; Carey, John C.; Feldman, David; Yu, Xijie; Armstrong, Linlea; Birch, Patricia; Kendler, David L.; Mundlos, Stefan; Yang, Feng-Chun; Agiostratidou, Gina; Hunter-Schaedle, Kim; Stevenson, David A.
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149A
Issue / Number: 10
Start Page: 2327
End Page: 2338
Document Type: Article
ID: 447238.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
Authors: Kurth, Ingo; Klopocki, Eva; Stricker, Sigmar; van Oosterwijk, Jolieke; Vanek, Sebastian; Altmann, Jens; Santos, Heliosa G.; van Harssel, Jeske J. T.; de Ravel, Thomy; Wilkie, Andrew O. M.; Gal, Andreas; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-08
Title of Journal: Nature Genetics
Volume: 41
Issue / Number: 8
Start Page: 862
End Page: 863
Document Type: Article
ID: 456436.0
Entries: 1-10  
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