scholarly journals Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

2013 ◽  
Vol 45 (3) ◽  
pp. 299-303 ◽  
Author(s):  
Andrew Kirby ◽  
Andreas Gnirke ◽  
David B Jaffe ◽  
Veronika Barešová ◽  
Nathalie Pochet ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Massively Parallel Sequencing ◽  
Disease Type ◽  
Massively Parallel ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Parallel Sequencing ◽  
Medullary Cystic Kidney Disease

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1

2013 ◽  
Vol 26 (4) ◽  
pp. 793-798 ◽  
Author(s):  
Andreas P. Soloukides ◽  
Dimitrios-Anestis D. Moutzouris ◽  
Gregory N. Papagregoriou ◽  
Christoforos V. Stavrou ◽  
Constantinos C. Deltas ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Renal Graft ◽  
Graft Outcome ◽  
Medullary Cystic Kidney Disease

scholarly journals Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families

2002 ◽  
Vol 62 (4) ◽  
pp. 1385-1394 ◽  
Author(s):  
Christoforos Stavrou ◽  
Michael Koptides ◽  
Christos Tombazos ◽  
Evlalia Psara ◽  
Charalambos Patsias ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

2006 ◽  
Vol 119 (6) ◽  
pp. 649-658 ◽  
Author(s):  
Matthias T. F. Wolf ◽  
Bettina E. Mucha ◽  
Hans C. Hennies ◽  
Massimo Attanasio ◽  
Franziska Panther ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Mutational Analysis ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Haplotype Sharing ◽  
Medullary Cystic Kidney Disease

scholarly journals Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

2014 ◽  
Vol 9 (3) ◽  
pp. 527-535 ◽  
Author(s):  
Anthony J. Bleyer ◽  
Stanislav Kmoch ◽  
Corinne Antignac ◽  
Vicki Robins ◽  
Kendrah Kidd ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Presentation ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Variable Clinical Presentation

Medullary cystic kidney disease type 1 in a large Native-American kindred

2004 ◽  
Vol 44 (4) ◽  
pp. 611-617 ◽  
Author(s):  
Raymond L. Kiser ◽  
Matthias T.F. Wolf ◽  
Jeffrey L. Martin ◽  
Isabella Zalewski ◽  
Massimo Attanasio ◽  
...  
Keyword(s):  
Native American ◽  
Kidney Disease ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

Clinico-pathologic findings in medullary cystic kidney disease type 2

2005 ◽  
Vol 20 (6) ◽  
pp. 824-827 ◽  
Author(s):  
Anthony J. Bleyer ◽  
Thomas C. Hart ◽  
Mark C. Willingham ◽  
Samy S. Iskandar ◽  
Michael C. Gorry ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Pathologic Findings
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