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Results: 1 to 20 of 97

1.

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.

Benhaj Mbarek I, Abroug S, Omezzine A, Zellama D, Achour A, Harbi A, Bouslama A.

BMC Nephrol. 2011 May 25;12:25. doi: 10.1186/1471-2369-12-25.

PMID:
21612638
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

Nagara M, Tiar A, Ben Halim N, Ben Rhouma F, Messaoud O, Bouyacoub Y, Kefi R, Hassayoun S, Zouari N, Ben Ammar MS, Abdelhak S, Chemli J.

Gene. 2013 Sep 15;527(1):316-20. doi: 10.1016/j.gene.2013.06.023. Epub 2013 Jun 25.

PMID:
23810941
[PubMed - indexed for MEDLINE]
3.

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS.

J Am Soc Nephrol. 2007 Jun;18(6):1905-14. Epub 2007 Apr 25.

PMID:
17460142
[PubMed - indexed for MEDLINE]
Free Article
4.

A double mutation in AGXT gene in families with primary hyperoxaluria type 1.

Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F.

Gene. 2013 Dec 1;531(2):451-6. doi: 10.1016/j.gene.2013.08.083. Epub 2013 Sep 5.

PMID:
24012869
[PubMed - indexed for MEDLINE]
5.

Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.

Coulter-Mackie MB.

Am J Nephrol. 2005 May-Jun;25(3):264-8. Epub 2005 Jun 15.

PMID:
15961945
[PubMed - indexed for MEDLINE]
6.

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).

Tarn AC, von Schnakenburg C, Rumsby G.

J Inherit Metab Dis. 1997 Sep;20(5):689-96.

PMID:
9323564
[PubMed - indexed for MEDLINE]
7.

Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.

Lorenzo V, Alvarez A, Torres A, Torregrosa V, Hernández D, Salido E.

Kidney Int. 2006 Sep;70(6):1115-9. Epub 2006 Aug 16.

PMID:
16912707
[PubMed - indexed for MEDLINE]
8.

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Rumsby G, Williams E, Coulter-Mackie M.

Kidney Int. 2004 Sep;66(3):959-63.

PMID:
15327387
[PubMed - indexed for MEDLINE]
9.

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M.

J Am Soc Nephrol. 2001 Oct;12(10):2072-9.

PMID:
11562405
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW.

J Nephrol. 2004 May-Jun;17(3):436-40.

PMID:
15365967
[PubMed - indexed for MEDLINE]
11.

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR.

Kidney Int. 2004 Aug;66(2):746-52.

PMID:
15253729
[PubMed - indexed for MEDLINE]
12.

Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.

Rumsby G.

Mol Urol. 2000 Winter;4(4):349-54.

PMID:
11156702
[PubMed - indexed for MEDLINE]
13.

Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

Williams E, Rumsby G.

Clin Chem. 2007 Jul;53(7):1216-21. Epub 2007 May 10.

PMID:
17495019
[PubMed - indexed for MEDLINE]
Free Article
14.

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

Santana A, Salido E, Torres A, Shapiro LJ.

Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7277-82. Epub 2003 May 30.

PMID:
12777626
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene.

von Schnakenburg C, Hulton SA, Milford DV, Roper HP, Rumsby G.

Nephron. 1998;78(4):485-8.

PMID:
9578076
[PubMed - indexed for MEDLINE]
16.

Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.

Pirulli D, Giordano M, Lessi M, Spanò A, Puzzer D, Zezlina S, Boniotto M, Crovella S, Florian F, Marangella M, Momigliano-Richiardi P, Savoldi S, Amoroso A.

Clin Exp Med. 2001 Jun;1(2):99-104.

PMID:
11699734
[PubMed - indexed for MEDLINE]
17.

Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1).

Ferrettini C, Pirulli D, Cosseddu D, Marangella M, Petrarulo M, Mazzola G, Vatta S, Amoroso A.

J Nephrol. 1998 Mar-Apr;11 Suppl 1:18-22.

PMID:
9604804
[PubMed - indexed for MEDLINE]
18.

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.

Williams EL, Kemper MJ, Rumsby G.

Am J Kidney Dis. 2006 Sep;48(3):481-3.

PMID:
16931222
[PubMed - indexed for MEDLINE]
19.

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

von Schnakenburg C, Rumsby G.

J Med Genet. 1997 Jun;34(6):489-92.

PMID:
9192270
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

Coulter-Mackie MB, Lian Q, Applegarth D, Toone J.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):172-8. Epub 2005 Jun 15.

PMID:
15963748
[PubMed - indexed for MEDLINE]

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