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Entries: 1-9  
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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
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
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
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
Authors: Moser, M.; Matthiesen, S.; Kirfel, J.; Schorle, H.; Bergmann, C.; Senderek, J.; Rudnik-Schoneborn, S.; Zerres, K.; Buettner, R.
Date of Publication (YYYY-MM-DD): 2005-05
Title of Journal: Hepatology
Volume: 41
Issue / Number: 5
Start Page: 1113
End Page: 1121
Document Type: Article
ID: 254903.0
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
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
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
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
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
Entries: 1-9  
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