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Items: 1 to 20 of 92

1.

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

Wamelink MM, Struys EA, Jansen EE, Blom HJ, Vilboux T, Gahl WA, Kömhoff M, Jakobs C, Levtchenko EN.

Mol Genet Metab. 2011 Mar;102(3):339-42. doi: 10.1016/j.ymgme.2010.12.002. Epub 2010 Dec 13.

PMID:
21195649
2.

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA.

Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685.

PMID:
18186520
3.

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.

4.

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
5.

The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells.

Freed KA, Blangero J, Howard T, Johnson MP, Curran JE, Garcia YR, Lan HC, Abboud HE, Moses EK.

J Med Genet. 2011 Aug;48(8):563-6. doi: 10.1136/jmg.2010.083303. Epub 2011 May 5.

PMID:
21546516
6.
7.

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.

8.

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
9.

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
10.

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
11.

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
12.

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family.

Kiehntopf M, Varga RE, Koch HG, Beetz C.

Gene. 2012 Mar 1;495(1):89-92. doi: 10.1016/j.gene.2011.12.005. Epub 2011 Dec 24.

PMID:
22209718
13.

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.

14.

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
15.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

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

PMID:
10571941
16.

The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.

Shahkarami S, Galehdari H, Ahmadzadeh A, Babaahmadi M, Pedram M.

Nefrologia. 2013;33(3):308-15. doi: 10.3265/Nefrologia.pre2012.Sep.11558. Epub 2013 Feb 15.

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.

Natural history of adolescent-onset cystinosis.

Midgley JP, El-Kares R, Mathieu F, Goodyer P.

Pediatr Nephrol. 2011 Aug;26(8):1335-7. doi: 10.1007/s00467-011-1904-z. Epub 2011 May 8.

PMID:
21553323
19.

Early oral cysteamine therapy for nephropathic cystinosis.

Gahl WA.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S38-41. Epub 2003 Nov 11. Review.

PMID:
14610675
20.

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS.

J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3.

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