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Entries: 1-10  
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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
Authors: Douzgou, Sofia; Lehmann, Katarina; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno
Date of Publication (YYYY-MM-DD): 2008-07-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 16
Start Page: 2116
End Page: 2121
Document Type: Article
ID: 411646.0
 
Full text / Content available
Brachydactyly type A2 associated with a defect in proGDF5 processing
Authors: Plöger, Frank; Seemann, Petra; Schmidt-von Kegler, Mareen; Lehmann, Katarina; Seidel, Jörg; Kjaer, Klaus W.; Pohl, Jens; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01-18
Title of Journal: Human Molecular Genetics
Volume: 17
Issue / Number: 9
Start Page: 122
End Page: 133
Document Type: Article
ID: 411663.0
 
Full text / Content available
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
Authors: Klopocki, E.; Ott, C-E; Benatar, N; Ullmann, Reinhardt; Mundlos, Stefan; Lehmann, Katarina
Date of Publication (YYYY-MM-DD): 2008-01-04
Title of Journal: Journal of Medical Gentics
Volume: 45
Issue / Number: 6
Start Page: 370
End Page: 375
Document Type: Article
ID: 410648.0
 
Full text / Content available
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
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Boergermann, Jan; Morin, Gilles; Reif, Silke; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2006-12
Title of Journal: European Journal of Human Genetics
Volume: 14
Issue / Number: 12
Start Page: 1248
End Page: 1254
Document Type: Article
ID: 313090.0
 
Full text / Content available
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
Authors: Seemann, Petra; Schwappacher, Raphaela; Kjaer, Klaus W.; Krakow, Deborah; Lehmann, Katarina; Dawson, Katherine; Stricker, Sigmar; Pohl, Jens; Ploeger, Frank; Staub, Eike; Nickel, Joachim; Sebald, Walter; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2005-06-21
Title of Journal: Journal of Clinical Investigation
Volume: 115
Issue / Number: 9
Start Page: 2373
End Page: 2381
Document Type: Article
ID: 268509.0
 
Full text / Content available
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
Authors: Innis, Jeffrey W.; Mortlock, Douglas; Chen, Zhi; Ludwig, Michael; Williams, Melissa E.; Williams, Thomas M.; Doyle, Colleen D.; Shao, Zhihong; Glynn, Michael; Mikulic, Davor; Lehmann, Katarina; Mundlos, Stefan; Utsch, Boris
Date of Publication (YYYY-MM-DD): 2004-11
Title of Journal: Human Molecular Genetics
Volume: 13
Issue / Number: 22
Start Page: 2841
End Page: 2851
Document Type: Article
ID: 228748.0
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Stricker, Sigmar; Sammar, Marai; Meyer, Birgit; Suering, Katrin; Majewski, Frank; Tinschert, Sigrid; Grzeschik, Karl-Heinz H.; Mueller, Dietmar; Knaus, Petra; Nurnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2003-10-14
Title of Journal: Proceedings of the National Academy of Sciences of the United States of America
Volume: 100
Issue / Number: 21
Start Page: 12277
End Page: 12282
Document Type: Article
ID: 174918.0
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review
Authors: Schweiger, Susann; Chaoui, Rabih; Tennstedt, Cornelia; Lehmann, Katarina; Mundlos, Stefan; Tinschert, Sigrid
Date of Publication (YYYY-MM-DD): 2003-03-26
Title of Journal: American Journal of Medical Genetics Part A
Volume: 120A
Issue / Number: 4
Start Page: 547
End Page: 552
Document Type: Article
ID: 127846.0
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
Authors: Kalache, Karim D.; Lehmann, Katarina; Chaoui, Rabih; Kivelitz, Dietmar E.; Mundlos, Stefan; Bollmann, Rainer
Date of Publication (YYYY-MM-DD): 2002-04-12
Title of Journal: Prenatal Diagnosis
Volume: 22
Issue / Number: 5
Start Page: 404
End Page: 407
Document Type: Article
ID: 24748.0
Entries: 1-10  
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