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Items: 5

1.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

2.

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

Soloukides AP, Moutzouris DA, Papagregoriou GN, Stavrou CV, Deltas CC, Tzanatos HA.

J Nephrol. 2013 Jul-Aug;26(4):793-8. doi: 10.5301/jn.5000249. Epub 2013 Feb 25.

PMID:
23475468
3.

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

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

4.

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F.

Kidney Int. 2007 Mar;71(6):574-81. Epub 2007 Jan 24.

PMID:
17245395
5.

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

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F.

Hum Genet. 2006 Jul;119(6):649-58. Epub 2006 Apr 26.

PMID:
16738948
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