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Similar articles for PubMed (Select 23532419)

1.

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
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.

PMID:
16138908
3.

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.

4.

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
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.

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.

PMID:
16374432
7.
8.

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. Epub .

PMID:
19782624
9.

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
10.

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
11.

Mutation analysis of SLC7A9 in cystinuria patients in Sweden.

Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.

Genet Test. 2003 Spring;7(1):13-20.

PMID:
12820697
12.

Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.

Albers A, Lahme S, Wagner C, Kaiser P, Zerres K, Capasso G, Pica A, Palacin M, Lang F, Bichler KH, Eggermann T.

Genet Test. 1999;3(2):227-31.

PMID:
10464673
13.

SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.

Harnevik L, Hoppe A, Söderkvist P.

Mamm Genome. 2006 Jul;17(7):769-76. Epub 2006 Jul 14.

PMID:
16845473
14.

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
15.

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.

16.

Transient neonatal cystinuria.

Boutros M, Vicanek C, Rozen R, Goodyer P.

Kidney Int. 2005 Feb;67(2):443-8.

PMID:
15673291
17.

The molecular basis of cystinuria.

Goodyer P.

Nephron Exp Nephrol. 2004;98(2):e45-9. Review.

PMID:
15499206
18.

SLC7A9 mutations in all three cystinuria subtypes.

Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R.

Kidney Int. 2002 Nov;62(5):1550-9.

19.

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

Schmidt C, Albers A, Tomiuk J, Eggermann K, Wagner C, Capasso G, Lahme S, Hesse A, Lang F, Zerres K, Eggermann T.

Clin Nephrol. 2002 May;57(5):342-8.

PMID:
12036192
20.

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P.

Hum Mutat. 2001 Dec;18(6):516-25.

PMID:
11748844
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