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Items: 1 to 20 of 217

1.

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.

2.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

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

PMID:
10571941
3.

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.

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
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
6.

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
7.

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.

8.

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
9.

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
10.

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
11.

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.

Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA.

Medicine (Baltimore). 2005 May;84(3):137-46.

12.

[From gene to disease: cystinosis].

Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA.

Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):476-8. Review. Dutch.

PMID:
15042893
13.

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
14.

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.

15.

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
16.

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.

17.

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. doi: 10.1089/gtmb.2008.0156.

PMID:
19580442
18.

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H.

Eur J Hum Genet. 1999 Sep;7(6):671-8.

19.

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
20.

New aspects of the pathogenesis of cystinosis.

Kalatzis V, Antignac C.

Pediatr Nephrol. 2003 Mar;18(3):207-15. Epub 2003 Feb 27. Review.

PMID:
12644911
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