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Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2 |
Authors: Kirfel, J.; Senderek, J.; Moser, M.; Roper, A.; Stendel, C.; Bergmann, C.; Zerres, K.; Buettner, R. | Date of Publication (YYYY-MM-DD): 2006-10 | Title of Journal: Gene Expression Patterns | Volume: 6 | Issue / Number: 8 | Start Page: 978 | End Page: 984 | Document Type: Article | ID: 289654.0 |
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Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease |
Authors: Bergmann, C.; Frank, V.; Kupper, F.; Kamitz, D.; Hanten, J.; Berges, P.; Mager, S.; Moser, M.; Kirfel, J.; Buttner, R.; Senderek, J.; Zerres, K. | Date of Publication (YYYY-MM-DD): 2006 | Title of Journal: Molecular Diagnosis & Therapy | Volume: 10 | Issue / Number: 3 | Start Page: 163 | End Page: 174 | Document Type: Article | ID: 288903.0 |
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Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy |
Authors: Senderek, J.; Krieger, M.; Stendel, C.; Bergmann, C.; Moser, M.; Breitbach-Faller, N.; Rudnik-Schoneborn, S.; Blaschek, A.; Wolf, N. I.; Harting, I.; North, K.; Smith, J.; Muntoni, F.; Brockington, M.; Quijano-Roy, S.; Renault, F.; Herrmann, R.; Hendershot, L. M.; Schroder, J. M.; Lochmuller, H.; Topaloglu, H.; Voit, T.; Weis, J.; Ebinger, F.; Zerres, K. | Date of Publication (YYYY-MM-DD): 2005-12 | Title of Journal: Nature Genetics | Volume: 37 | Issue / Number: 12 | Start Page: 1312 | End Page: 1314 | Document Type: Article | ID: 261730.0 |
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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) |
Authors: Bergmann, C.; Senderek, J.; Küpper, F.; Schneider, F.; Dornia, C.; Windelen, E.; Eggermann, T.; Rudnik-Schöneborn, S.; Kirfel, J.; Furu, L.; Onuchic, L. E.; Rossetti, S.; Harris, P. C.; Somlo, S.; Guay-Woodford, L.; Germino, G. G.; Moser, M.; Büttner, R.; Zerres, K. | Date of Publication (YYYY-MM-DD): 2004 | Title of Journal: Human Mutation | Volume: 23 | Issue / Number: 5 | Start Page: 453 | End Page: 463 | Document Type: Article | ID: 221575.0 |
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PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) |
Authors: Bergmann, C.; Senderek, J.; Schneider, F.; Dornia, C.; Kupper, F.; Eggermann, T.; Rudnik-Schöneborn, S.; Kirfel, J.; Moser, M.; Büttner, R.; Zerres, K. | Date of Publication (YYYY-MM-DD): 2004 | Title of Journal: Human Mutation | Volume: 23 | Issue / Number: 5 | Start Page: 487 | End Page: 495 | Document Type: Article | ID: 221576.0 |
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New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene |
Authors: Zerres, K.; Senderek, J.; Rudnik-Schoneborn, S.; Eggermann, T.; Kunze, J.; Mononen, T.; Kaariainen, H.; Kirfel, J.; Moser, M.; Buettner, R.; Bergmann, C. | Date of Publication (YYYY-MM-DD): 2004 | Title of Journal: Clinical Genetics | Volume: 66 | Start Page: 53 | End Page: 57 | Document Type: Article | ID: 226621.0 |
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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) |
Authors: Bergmann, C.; Senderek, J.; Sedlacek, B.; Pegiazoglou, I.; Puglia, P.; Eggermann, T.; Rudnik-Schoneborn, S.; Furu, L.; Onuchic, L. F.; De Baca, M.; Germino, G. G.; Guay-Woodford, L.; Somlo, S.; Moser, M.; Buttner, R.; Zerres, K. | Date of Publication (YYYY-MM-DD): 2003-01 | Title of Journal: Journal of the American Society of Nephrology | Volume: 14 | Issue / Number: 1 | Start Page: 76 | End Page: 89 | Document Type: Article | ID: 35334.0 |
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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene |
Authors: Nagasawa, Y.; Matthiesen, S.; Onuchic, L. F.; Hou, X. Y.; Bergmann, C.; Esquivel, E.; Senderek, J.; Ren, Z. Y.; Zeltner, R.; Furu, L.; Avner, E.; Moser, M.; Somlo, S.; Guay-Woodford, L.; Buttner, R.; Zerres, K.; Germino, G. G. | Date of Publication (YYYY-MM-DD): 2002-09 | Title of Journal: Journal of the American Society of Nephrology | Volume: 13 | Issue / Number: 9 | Start Page: 2246 | End Page: 2258 | Document Type: Article | ID: 41644.0 |
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