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Results: 1 to 20 of 119

1.

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA.

Mol Genet Metab. 1999 Feb;66(2):111-6.

PMID:
10068513
[PubMed - indexed for MEDLINE]
2.

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C.

Am J Hum Genet. 1999 Aug;65(2):353-9.

PMID:
10417278
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
9792862
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA.

Mol Genet Metab. 2001 Nov;74(3):332-7.

PMID:
11708862
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
12204010
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
10673275
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA.

Hum Genet. 2004 Nov;115(6):510-4. Epub 2004 Sep 9.

PMID:
15365816
[PubMed - indexed for MEDLINE]
8.

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. doi: 10.1089/gte.2008.0014.

PMID:
18752449
[PubMed - indexed for MEDLINE]
9.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

Hum Mutat. 1999;14(6):454-8. Review.

PMID:
10571941
[PubMed - indexed for MEDLINE]
10.

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA.

Pediatr Res. 2000 Jan;47(1):17-23.

PMID:
10625078
[PubMed - indexed for MEDLINE]
11.

Mutations of CTNS causing intermediate cystinosis.

Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT.

Mol Genet Metab. 1999 Aug;67(4):283-93.

PMID:
10444339
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
10556299
[PubMed - indexed for MEDLINE]
Free Article
13.

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

Rupar CA, Matsell D, Surry S, Siu V.

J Med Genet. 2001 Sep;38(9):615-6. No abstract available.

PMID:
11565547
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C.

Nat Genet. 1998 Apr;18(4):319-24.

PMID:
9537412
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
11528232
[PubMed - indexed for MEDLINE]
16.

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.

Helip-Wooley A, Park MA, Lemons RM, Thoene JG.

Mol Genet Metab. 2002 Feb;75(2):128-33.

PMID:
11855931
[PubMed - indexed for MEDLINE]
17.

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. Epub 2001 Aug 14.

PMID:
11505338
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutational spectrum of the CTNS gene in Italy.

Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M.

Eur J Hum Genet. 2003 Jul;11(7):503-8.

PMID:
12825071
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
12442267
[PubMed - indexed for MEDLINE]
20.

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. doi: 10.3109/13816810903200953.

PMID:
19852576
[PubMed - indexed for MEDLINE]

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