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Results: 1 to 20 of 248

1.

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, Osabe D, Shinohara S, Nomura K, Segawa M, Miyamoto T, Moritani M, Kunika K, Itakura M.

Kidney Int. 2004 May;65(5):1589-97.

PMID:
15086896
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
12471200
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F.

Kidney Int. 2003 Nov;64(5):1580-7.

PMID:
14531790
[PubMed - indexed for MEDLINE]
5.

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Büchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y.

J Am Soc Nephrol. 2003 Nov;14(11):2883-93.

PMID:
14569098
[PubMed - indexed for MEDLINE]
Free Article
6.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S.

Kidney Int. 2005 Oct;68(4):1472-82.

PMID:
16164624
[PubMed - indexed for MEDLINE]
7.

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT.

Kidney Int. 2003 May;63(5):1645-51.

PMID:
12675839
[PubMed - indexed for MEDLINE]
8.

Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.

Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M.

Arthritis Rheum. 2000 Apr;43(4):925-9.

PMID:
10765940
[PubMed - indexed for MEDLINE]
Free Article
9.

Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.

Puig JG, Prior C, Martínez-Ara J, Torres RJ.

Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1295-300.

PMID:
17065110
[PubMed - indexed for MEDLINE]
10.

Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.

Rezende-Lima W, Parreira KS, García-González M, Riveira E, Banet JF, Lens XM.

Kidney Int. 2004 Aug;66(2):558-63.

PMID:
15253706
[PubMed - indexed for MEDLINE]
11.

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S.

Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2.

PMID:
16883323
[PubMed - indexed for MEDLINE]
12.

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S.

Eur J Hum Genet. 2003 Feb;11(2):145-54.

PMID:
12634862
[PubMed - indexed for MEDLINE]
Free Article
13.

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Müller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV.

Hum Genet. 2011 Jan;129(1):51-8. doi: 10.1007/s00439-010-0897-1. Epub 2010 Oct 26.

PMID:
20976470
[PubMed - indexed for MEDLINE]
14.

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

Liu M, Chen Y, Liang Y, Liu Y, Wang S, Hou P, Zhang H, Zhao M.

Gene. 2013 Dec 1;531(2):363-9. doi: 10.1016/j.gene.2013.08.041. Epub 2013 Aug 27.

PMID:
23988501
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

[Familial juvenile hyperuricemic nephropathy (FJHN)].

Kudo E, Itakura M.

Nihon Rinsho. 2008 Apr;66(4):683-6. Review. Japanese.

PMID:
18409515
[PubMed - indexed for MEDLINE]
17.

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.

Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS.

Ann Lab Med. 2013 Jul;33(4):293-6. doi: 10.3343/alm.2013.33.4.293. Epub 2013 Jun 24.

PMID:
23826568
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Calado J, Gaspar A, Clemente C, Rueff J.

BMC Med Genet. 2005 Jan 27;6:5.

PMID:
15673476
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S.

Am J Hum Genet. 2000 Jun;66(6):1989-94. Epub 2000 Apr 25.

PMID:
10780922
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y.

J Am Soc Nephrol. 2001 Nov;12(11):2348-57.

PMID:
11675411
[PubMed - indexed for MEDLINE]
Free Article

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