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Items: 1 to 20 of 114

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.

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
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.

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
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
6.

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.

Boualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A.

Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.

PMID:
26383609
7.

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

M'dimegh S, Omezzine A, M'barek I, Moussa A, Mabrouk S, Kaarout H, Souche G, Chemli J, Aloui S, Aquaviva-Bourdain C, Achour A, Abroug S, Bouslama A.

Ann Hum Genet. 2017 Jan;81(1):1-10. doi: 10.1111/ahg.12178. Epub 2016 Dec 9.

PMID:
27935012
8.

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.

9.

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
10.
11.

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.

12.
13.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium.

Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.

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.

15.

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.

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
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
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
19.
20.

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.

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