227 related articles for article (PubMed ID: 27269891)
1. 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]
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. 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]
4. Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
Bastug F; Nalcacioglu H; Ozaltin F; Korkmaz E; Yel S
Iran J Kidney Dis; 2018 Jan; 12(1):61-63. PubMed ID: 29421779
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Önenli-Mungan N; Kör D; Karabay-Bayazıt A; Cengiz N; Yavuz S; Noyan A; Ceylaner G; Şeker-Yılmaz B; Topaloğlu AK; Yüksel B; Anarat A
Turk J Pediatr; 2016; 58(4):362-370. PubMed ID: 28276207
[TBL] [Abstract][Full Text] [Related]
8. Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R; Vilboux T; Coskun T; Ozaltin F; Tinloy B; Gunay-Aygun M; Bakkaloglu A; Besbas N; van den Heuvel L; Kleta R; Gahl WA
Pediatr Nephrol; 2012 Jan; 27(1):115-21. PubMed ID: 21786142
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.
Li XQ; Wu D; Liang XJ; Li WJ; Liu M; Cao BY; Su C; Meng X; Gong CX
J Pediatr Endocrinol Metab; 2019 Apr; 32(4):375-382. PubMed ID: 30849045
[TBL] [Abstract][Full Text] [Related]
12. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
Elmonem MA; Khalil R; Khodaparast L; Khodaparast L; Arcolino FO; Morgan J; Pastore A; Tylzanowski P; Ny A; Lowe M; de Witte PA; Baelde HJ; van den Heuvel LP; Levtchenko E
Sci Rep; 2017 Feb; 7():42583. PubMed ID: 28198397
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D; Princiero Berlingerio S; Elmonem MA; Oliveira Arcolino F; Soliman N; van den Heuvel B; Gijsbers R; Levtchenko E
Nephron; 2019; 141(2):133-146. PubMed ID: 30554218
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Cystinosis induced by
Wang X; Zhang BL; Chen XY; Guo Z
Zhongguo Dang Dai Er Ke Za Zhi; 2021 Dec; 23(12):1276-1281. PubMed ID: 34911613
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Short-cut diagnostic tool in cystinosis: Bone marrow aspiration.
Sürmeli Döven S; Delibaş A; Kayacan UR; Ünal S
Pediatr Int; 2017 Nov; 59(11):1178-1182. PubMed ID: 28871612
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L; Amri Y; Saheli C; Mili W; Mabrouk S; Chabchoub I; Boudabous H; Azzouz WB; Turkia HB; Ferchichi S; Tebib N; Massoud T; Ghorbel M; Laradi S
Diagn Pathol; 2022 May; 17(1):44. PubMed ID: 35524314
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]