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Items: 1 to 20 of 260

1.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PMID:
19479957
2.

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.

3.

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.

PMID:
23810941
4.

[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].

van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR.

Ned Tijdschr Geneeskd. 2006 Jul 29;150(30):1669-72. Review. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2006 Nov 4;150(44):2460.

PMID:
16922352
5.

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.

6.

Identification of new mutations in primary hyperoxaluria type 1 (PH1).

von Schnakenburg C, Rumsby G.

J Nephrol. 1998 Mar-Apr;11 Suppl 1:15-7.

PMID:
9604803
7.

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.

8.

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

Coulter-Mackie MB, Tung A, Henderson HE, Toone JR, Applegarth DA.

Mol Genet Metab. 2003 Jan;78(1):44-50.

PMID:
12559847
9.
10.

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1.

Chevalier-Porst F, Rolland MO, Cochat P, Bozon D.

Am J Med Genet A. 2005 Jan 1;132A(1):80-3.

PMID:
15580638
11.

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB, Rumsby G.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. Review.

PMID:
15464418
12.
14.

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

Coulter-Mackie MB, Applegarth D, Toone JR, Henderson H.

Mol Genet Metab. 2004 May;82(1):64-8.

PMID:
15110324
16.

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.

PMID:
24012869
17.

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
18.

Identification of 5 novel mutations in the AGXT gene.

Basmaison O, Rolland MO, Cochat P, Bozon D.

Hum Mutat. 2000 Jun;15(6):577.

PMID:
10862087
19.

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Coulter-Mackie MB, Rumsby G, Applegarth DA, Toone JR.

Mol Genet Metab. 2001 Nov;74(3):314-21.

PMID:
11708860
20.

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.

Danpure CJ, Rumsby G.

Expert Rev Mol Med. 2004 Jan 9;6(1):1-16. Review.

PMID:
14987413
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