334 related articles for article (PubMed ID: 24012869)
1. 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; 531(2):451-6. PubMed ID: 24012869
[TBL] [Abstract][Full Text] [Related]
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; 527(1):316-20. PubMed ID: 23810941
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
M'Dimegh S; Aquaviva-Bourdain C; Omezzine A; M'Barek I; Souche G; Zellama D; Abidi K; Achour A; Gargah T; Abroug S; Bouslama A
J Genet; 2016 Sep; 95(3):659-66. PubMed ID: 27659337
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 27935012
[TBL] [Abstract][Full Text] [Related]
5. Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H; Jarraya F; Maalej B; Lahiani A; Mahfoudh H; Makni F; Hachicha J; Fakhfakh F
BMC Nephrol; 2017 Oct; 18(1):303. PubMed ID: 28969594
[TBL] [Abstract][Full Text] [Related]
6. [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; 150(30):1669-72. PubMed ID: 16922352
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19479957
[TBL] [Abstract][Full Text] [Related]
8. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg C; Rumsby G
J Nephrol; 1998; 11 Suppl 1():15-7. PubMed ID: 9604803
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
Isiyel E; Ezgu SA; Caliskan S; Akman S; Akil I; Tabel Y; Akinci N; Ozdogan EB; Ozel A; Eroglu FK; Ezgu FS
Mol Genet Metab; 2016 Dec; 119(4):311-316. PubMed ID: 27915025
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 26383609
[TBL] [Abstract][Full Text] [Related]
11. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.
Nogueira PK; Vuong TS; Bouton O; Maillard A; Marchand M; Rolland MO; Cochat P; Bozon D
Hum Mutat; 2000 Apr; 15(4):384-5. PubMed ID: 10737993
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 17460142
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
M'dimegh S; Omezzine A; Hamida-Rebai MB; Aquaviva-Bourdain C; M'barek I; Sahtout W; Zellama D; Souche G; Achour A; Abroug S; Bouslama A
Transpl Immunol; 2016 Nov; 39():60-65. PubMed ID: 27568336
[TBL] [Abstract][Full Text] [Related]
14. Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
Rhuma NR; Fituri OA; Sabei LT
Saudi J Kidney Dis Transpl; 2018; 29(1):30-38. PubMed ID: 29456205
[TBL] [Abstract][Full Text] [Related]
15. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
Coulter-Mackie MB; Rumsby G
Mol Genet Metab; 2004; 83(1-2):38-46. PubMed ID: 15464418
[TBL] [Abstract][Full Text] [Related]
16. 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; 17(3):436-40. PubMed ID: 15365967
[TBL] [Abstract][Full Text] [Related]
17. 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):2072-2079. PubMed ID: 11562405
[TBL] [Abstract][Full Text] [Related]
18. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
Li X; Gu J; Yang Y; Li J; Li Y
Tohoku J Exp Med; 2018 Dec; 246(4):233-241. PubMed ID: 30541997
[TBL] [Abstract][Full Text] [Related]
19. A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity.
Hoppe B; Danpure CJ; Rumsby G; Fryer P; Jennings PR; Blau N; Schubiger G; Neuhaus T; Leumann E
Am J Kidney Dis; 1997 Jan; 29(1):36-44. PubMed ID: 9002528
[TBL] [Abstract][Full Text] [Related]
20. [Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases].
Belhaj R; Hayder N; Gargueh T; Zorguati M; Marrakchi O; Abdelhak S; Lakhoua R; Abdelmoula J
Pathol Biol (Paris); 2011 Aug; 59(4):e97-102. PubMed ID: 19896299
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
