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Results: 1 to 20 of 45

1.

Characterization and separation of an inhibitor of viral hemagglutination present in urine.

TAMM I, HORSFALL FL Jr.

Proc Soc Exp Biol Med. 1950 May;74(1):106-8. No abstract available.

PMID:
15430405
[PubMed - indexed for MEDLINE]
2.

THE DISTRIBUTION OF SERUM URIC ACID VALUES IN A POPULATION UNSELECTED AS TO GOUT OR HYPERURICEMIA: TECUMSEH, MICHIGAN 1959-1960.

MIKKELSEN WM, DODGE HJ, VALKENBURG H.

Am J Med. 1965 Aug;39:242-51. No abstract available.

PMID:
14320691
[PubMed - indexed for MEDLINE]
3.

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T.

Hum Mutat. 2002 Sep;20(3):153-61. Review.

PMID:
12203987
[PubMed - indexed for MEDLINE]
4.

The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain.

de la Mata I, Garcia JL, González C, Menéndez M, Cañada J, Jiménez-Barbero J, Asensio JL.

Chembiochem. 2002 Aug 2;3(8):726-40.

PMID:
12203971
[PubMed - indexed for MEDLINE]
5.
6.

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Béroud C, Calender A.

Hum Mutat. 2002 Jul;20(1):35-47.

PMID:
12112656
[PubMed - indexed for MEDLINE]
7.

Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21.

Zhang Y, Gorry MC, Hart PS, Pettenati MJ, Wang L, Marks JJ, Lu X, Hart TC.

Cytogenet Cell Genet. 2001;95(3-4):146-52.

PMID:
12063391
[PubMed - indexed for MEDLINE]
8.

Vitamin A excreted in the urine of canines is associated with a Tamm-Horsfall like protein.

Schweigert FJ, Raila J, Haebel S.

Vet Res. 2002 May-Jun;33(3):299-311.

PMID:
12056481
[PubMed - indexed for MEDLINE]
Free Article
9.

The ZP domain is a conserved module for polymerization of extracellular proteins.

Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM.

Nat Cell Biol. 2002 Jun;4(6):457-61.

PMID:
12021773
[PubMed - indexed for MEDLINE]
10.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.

J Invest Dermatol. 2001 Dec;117(6):1391-6.

PMID:
11886499
[PubMed - indexed for MEDLINE]
Free Article
11.

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D.

Am J Hum Genet. 2002 Apr;70(4):943-54. Epub 2002 Feb 26.

PMID:
11868160
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Effects of Tamm-Horsfall protein and albumin on the inhibition of free radicals.

Chen WC, Lin HS, Tsai FJ, Li CW.

Urol Int. 2001;67(4):305-9.

PMID:
11741133
[PubMed - indexed for MEDLINE]
13.

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.

Pirulli D, Puzzer D, De Fusco M, Crovella S, Amoroso A, Scolari F, Viola BF, Maiorca R, Caridi G, Savoldi S, Ghiggeri G, Casari G.

J Nephrol. 2001 Sep-Oct;14(5):392-6.

PMID:
11730273
[PubMed - indexed for MEDLINE]
14.

Effects of Tamm-Horsfall protein and albumin on calcium oxalate crystallization and importance of sialic acids.

Chen WC, Lin HS, Chen HY, Shih CH, Li CW.

Mol Urol. 2001 Spring;5(1):1-5.

PMID:
11689144
[PubMed - indexed for MEDLINE]
15.

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
16.
17.

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12.

Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, Futreal PA, Rahman N.

Kidney Int. 2001 Oct;60(4):1233-9.

PMID:
11576337
[PubMed - indexed for MEDLINE]
Free Article
18.

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
19.

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
20.

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.

Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola A, Forabosco A, Ventruto V, D'Urso M.

Hum Mutat. 1998;12(5):361.

PMID:
10671058
[PubMed - indexed for MEDLINE]

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