Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 278

Similar articles for PubMed (Select 18752446)

1.

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
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.
4.

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.

5.

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
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.

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
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.

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.

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

Kidney Int. 2003 Nov;64(5):1564-72.

PMID:
14531788
10.

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
11.

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
12.

Transient neonatal cystinuria.

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

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

PMID:
15673291
13.

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
14.

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
15.

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H.

Kidney Int. 2006 Apr;69(7):1198-206.

PMID:
16609684
16.

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
17.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.

J Med Genet. 2005 Jan;42(1):58-68.

18.

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.

19.

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
20.

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.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk