325 related articles for article (PubMed ID: 26565940)
1. Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S; Al-Rababah B; Hazza I; Akl K; Saca E; Al-Younis D
Nefrologia; 2015; 35(6):547-53. PubMed ID: 26565940
[TBL] [Abstract][Full Text] [Related]
2. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L
BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123
[TBL] [Abstract][Full Text] [Related]
3. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Tang S; Danda S; Zoleikhaeian M; Simon M; Huang T
Genet Test Mol Biomarkers; 2009 Aug; 13(4):435-8. PubMed ID: 19580442
[TBL] [Abstract][Full Text] [Related]
4. CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F; Hosseini R; Akouchekian M; Teimourian S; Ataei Kachoei Z; Otukesh H; Gahl WA; Behnam B
Nefrologia; 2017; 37(3):301-310. PubMed ID: 28238446
[TBL] [Abstract][Full Text] [Related]
5. Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
Alcántara-Ortigoza MA; Belmont-Martínez L; Vela-Amieva M; González-Del Angel A
Genet Test; 2008 Sep; 12(3):409-14. PubMed ID: 18752449
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M; Trabelsi M; Ben Youssef S; Ouertani I; Hammi Y; Achour A; Maazoul F; Kharrat M; Gargah T; M'rad R
Pediatr Nephrol; 2023 Jan; 38(1):119-129. PubMed ID: 35445972
[TBL] [Abstract][Full Text] [Related]
7. Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P; Tongkobpetch S; Kingwatanakul P; Deekajorndech T; Bernardini IM; Suphapeetiporn K; Gahl WA; Shotelersuk V
Gene; 2012 May; 499(2):323-5. PubMed ID: 22450360
[TBL] [Abstract][Full Text] [Related]
8. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Attard M; Jean G; Forestier L; Cherqui S; van't Hoff W; Broyer M; Antignac C; Town M
Hum Mol Genet; 1999 Dec; 8(13):2507-14. PubMed ID: 10556299
[TBL] [Abstract][Full Text] [Related]
9. CTNS mutations in patients with cystinosis.
Anikster Y; Shotelersuk V; Gahl WA
Hum Mutat; 1999; 14(6):454-8. PubMed ID: 10571941
[TBL] [Abstract][Full Text] [Related]
10. Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M; Schickel J; Gönne Bv; Koch HG; Superti-Furga A; Steinmann B; Deufel T; Harms E
Hum Mutat; 2002 Sep; 20(3):237. PubMed ID: 12204010
[TBL] [Abstract][Full Text] [Related]
11. Analysis of CTNS gene transcripts in nephropathic cystinosis.
Taranta A; Wilmer MJ; van den Heuvel LP; Bencivenga P; Bellomo F; Levtchenko EN; Emma F
Pediatr Nephrol; 2010 Jul; 25(7):1263-7. PubMed ID: 20352457
[TBL] [Abstract][Full Text] [Related]
12. Characterization of CTNS mutations in Arab patients with cystinosis.
Aldahmesh MA; Humeidan A; Almojalli HA; Khan AO; Rajab M; AL-Abbad AA; Meyer BF; Alkuraya FS
Ophthalmic Genet; 2009 Dec; 30(4):185-9. PubMed ID: 19852576
[TBL] [Abstract][Full Text] [Related]
13. The molecular basis of Dutch infantile nephropathic cystinosis.
Heil SG; Levtchenko E; Monnens LA; Trijbels FJ; Van der Put NM; Blom HJ
Nephron; 2001 Sep; 89(1):50-5. PubMed ID: 11528232
[TBL] [Abstract][Full Text] [Related]
14. The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
Phornphutkul C; Anikster Y; Huizing M; Braun P; Brodie C; Chou JY; Gahl WA
Am J Hum Genet; 2001 Oct; 69(4):712-21. PubMed ID: 11505338
[TBL] [Abstract][Full Text] [Related]
15. CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V; Larson D; Anikster Y; McDowell G; Lemons R; Bernardini I; Guo J; Thoene J; Gahl WA
Am J Hum Genet; 1998 Nov; 63(5):1352-62. PubMed ID: 9792862
[TBL] [Abstract][Full Text] [Related]
16. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
Touchman JW; Anikster Y; Dietrich NL; Maduro VV; McDowell G; Shotelersuk V; Bouffard GG; Beckstrom-Sternberg SM; Gahl WA; Green ED
Genome Res; 2000 Feb; 10(2):165-73. PubMed ID: 10673275
[TBL] [Abstract][Full Text] [Related]
17. Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S; Sarlaki F; Morovvati S
J Med Case Rep; 2022 May; 16(1):181. PubMed ID: 35513889
[TBL] [Abstract][Full Text] [Related]
18. Cystinosis in Eastern Turkey.
Doğan M; Bulan K; Kaba S; Cesur Y; Ceylaner S; Ustyol L
J Pediatr Endocrinol Metab; 2016 Aug; 29(8):965-9. PubMed ID: 27269891
[TBL] [Abstract][Full Text] [Related]
19. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V; Cohen-Solal L; Cordier B; Frishberg Y; Kemper M; Nuutinen EM; Legrand E; Cochat P; Antignac C
Hum Mutat; 2002 Dec; 20(6):439-46. PubMed ID: 12442267
[TBL] [Abstract][Full Text] [Related]
20. A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC; Figueiredo GS; Baylis O; Montgomery E; Beesley C; Molinari E; Figueiredo FC; Sayer JA
Ophthalmic Genet; 2019 Apr; 40(2):157-160. PubMed ID: 30957593
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
