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Items: 1 to 20 of 111

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.

Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.

Musetti C, Babu D, Fusco I, Mellone S, Zonta A, Quaglia M, Cantaluppi V, Stratta P, Giordano M.

J Nephrol. 2016 Jun;29(3):451-455. doi: 10.1007/s40620-016-0282-9. Epub 2016 Mar 4.

PMID:
26943180
3.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. doi: 10.2215/CJN.01220211. Epub 2011 Aug 25.

5.

Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.

Zhao X, Paterson AD, Zahirieh A, He N, Wang K, Pei Y.

Clin J Am Soc Nephrol. 2008 Jan;3(1):146-52. Epub 2007 Dec 12.

6.

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS.

Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26.

PMID:
24670410
7.

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.

J Med Genet. 2002 Dec;39(12):882-92.

8.

Autosomal dominant polycystic kidney disease-type 2. Ultrasound, genetic and clinical correlations.

Demetriou K, Tziakouri C, Anninou K, Eleftheriou A, Koptides M, Nicolaou A, Deltas CC, Pierides A.

Nephrol Dial Transplant. 2000 Feb;15(2):205-11.

PMID:
10648666
9.

Diagnostic approach in autosomal dominant polycystic kidney disease.

Pei Y.

Clin J Am Soc Nephrol. 2006 Sep;1(5):1108-14. Epub 2006 Aug 9. Review.

10.

[Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].

Gómez PF, Moro EC, García-Cosmes P, Sarmiento RG, Romo JM.

Nefrologia. 2009;29(6):562-8. doi: 10.3265/Nefrologia.2009.29.6.5511.en.full. Spanish.

11.

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.

Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R.

Nephrol Dial Transplant. 1998 Oct;13(10):2536-46.

PMID:
9794556
12.

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.

13.

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.

14.

Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related.

Bleyer AJ, Kmoch S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Aug 15 [updated 2016 Jun 30].

15.

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

Blumenstiel B, DeFelice M, Birsoy O, Bleyer AJ, Kmoch S, Carter TA, Gnirke A, Kidd K, Rehm HL, Ronco L, Lander ES, Gabriel S, Lennon NJ.

J Mol Diagn. 2016 Jul;18(4):566-71. doi: 10.1016/j.jmoldx.2016.03.003. Epub 2016 May 5.

16.

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.

J Am Soc Nephrol. 2003 May;14(5):1164-74.

17.

Anticipation of end stage renal disease in patients with autosomal dominant polycystic kidney disease in successive generations.

Sotirakopoulos N, Tsitsios T, Stambolidou M, Cristodoulidou C, Spaia S, Mavromatidis K.

Ren Fail. 2001 Sep;23(5):715-20.

PMID:
11725918
18.

Simultaneous adult polycystic kidney disease and Alport syndrome.

Phelan PJ, Fletcher E, Carroll N, Metcalfe W, Turner AN.

Nephrology (Carlton). 2016 Aug;21(8):722-3. doi: 10.1111/nep.12661. No abstract available.

PMID:
27436620
19.

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.

Clin Nephrol. 2012 Jul;78(1):47-53.

PMID:
22732337
20.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA.

Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22.

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