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Items: 1 to 20 of 147

1.

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C.

Genet Test Mol Biomarkers. 2015 Nov;19(11):641-5. doi: 10.1089/gtmb.2015.0144. Epub 2015 Nov 5.

PMID:
26540609
2.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.

Ann Hum Genet. 2005 Sep;69(Pt 5):501-7.

3.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ.

Clin J Am Soc Nephrol. 2015 Jul 7;10(7):1235-45. doi: 10.2215/CJN.10981114. Epub 2015 May 11.

4.
5.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

Di Perna M, Louizou E, Fischetti L, Dedoussis GV, Stanziale P, Michelakakis H, Zelante L, Pras E, Bisceglia L.

Genet Test. 2008 Sep;12(3):351-5. doi: 10.1089/gte.2007.0113.

PMID:
18752446
6.

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T; Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN).

Kidney Int. 2002 Oct;62(4):1136-42.

7.

Molecular characterization of cystinuria in south-eastern European countries.

Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Golubovic E, Soylu A, Saraga M, Pavicevic S, Baskin E, Akil I, Gregoric A, Lilova M, Topaloglu R, Sukarova Stefanovska E, Plaseska-Karanfilska D.

Urolithiasis. 2013 Feb;41(1):21-30. doi: 10.1007/s00240-012-0531-x. Epub 2012 Dec 27.

PMID:
23532419
8.

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, Dashti S, Kheirollahi M.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

PMID:
26123750
9.

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.

Yuen YP, Lam CW, Lai CK, Tong SF, Li PS, Tam S, Kwan EY, Chan SY, Tsang WK, Chan KY, Mak WL, Cheng CW, Chan YW.

Kidney Int. 2006 Jan;69(1):123-8.

10.

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.

Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001.

PMID:
19782624
11.

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U.

J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3.

12.

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.

Guillén M, Corella D, Cabello ML, González JI, Sabater A, Chaves JF, Hernández-Yago J.

Clin Genet. 2005 Mar;67(3):240-51. Erratum in: Clin Genet. 2005 May;67(5):450.

PMID:
15691362
13.

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft Pädiatrische Nephrologie.

Urol Res. 2004 May;32(2):75-8. Epub 2004 Feb 26.

PMID:
14991253
14.

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.

Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.

Mol Genet Metab. 2008 Nov;95(3):192-3. doi: 10.1016/j.ymgme.2008.07.006. Epub 2008 Sep 7. No abstract available.

PMID:
18778962
15.

Digenic Inheritance in Cystinuria Mouse Model.

Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V.

PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015.

16.

Type I cystinuria and its genetic basis in a population of Turkish school children.

Tanzer F, Ozgur A, Bardakci F.

Int J Urol. 2007 Oct;14(10):914-7.

17.

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U.

Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19.

PMID:
24045899
18.

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Markazi S, Kheirollahi M, Doosti A, Mohammadi M, Koulivand L.

Iran J Kidney Dis. 2016 Jan;10(1):44-7.

19.

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML.

Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14.

PMID:
21255007
20.

A Novel Mutation in SLC7A9 Gene in Cystinuria.

Fazaeli S, Ashouri S, Kheirollahi M, Mohammadi M, Fazilati M.

Iran J Kidney Dis. 2017 Mar;11(2):138-141.

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