Schmidt C - Search Results

1

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). Botzenhart E, et al. Among authors: schmidt c. Kidney Int. 2002 Oct;62(4):1136-42. doi: 10.1111/j.1523-1755.2002.kid552.x. Kidney Int. 2002. PMID: 12234283 Free article.

2

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. Schmidt C, et al. Kidney Int. 2003 Nov;64(5):1564-72. doi: 10.1046/j.1523-1755.2003.00250.x. Kidney Int. 2003. PMID: 14531788 Free article.

3

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. Schmidt C, et al. Urol Res. 2004 May;32(2):75-8. doi: 10.1007/s00240-004-0405-y. Epub 2004 Feb 26. Urol Res. 2004. PMID: 14991253

4

Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.

Schmidt C, Lahme S, Zerres K, Eggermann T. Schmidt C, et al. Mol Genet Metab. 2005 Feb;84(2):172-5. doi: 10.1016/j.ymgme.2004.08.018. Mol Genet Metab. 2005. PMID: 15670723

5

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. Schmidt C, et al. Clin Nephrol. 2002 May;57(5):342-8. doi: 10.5414/cnp57342. Clin Nephrol. 2002. PMID: 12036192

6

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF; APN Arbeitsgemeinschaft für Pädiatrische Nephrologie. Schmidt C, et al. Clin Nephrol. 2003 May;59(5):353-9. Clin Nephrol. 2003. PMID: 12779097

7

Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.

Brauers E, Schmidt C, Zerres K, Eggermann T. Brauers E, et al. Among authors: schmidt c. Clin Nephrol. 2006 Apr;65(4):262-6. doi: 10.5414/cnp65262. Clin Nephrol. 2006. PMID: 16629225

8

Identification of novel cystinuria mutations in pediatric patients.

Brauers E, Hozyasz K, Golabek B, Slowik M, Schmidt C, Vester U, Zerres K, Eggermann T. Brauers E, et al. Among authors: schmidt c. J Pediatr Urol. 2006 Dec;2(6):575-8. doi: 10.1016/j.jpurol.2005.11.011. Epub 2006 Jan 19. J Pediatr Urol. 2006. PMID: 18947684

9

[Molecular biology of cystinuria].

Albers A, Wagner CA, Schmidt C, Lahme S, Bichler KH, Lang F, Zerres K, Eggermann T. Albers A, et al. Among authors: schmidt c. Fortschr Med Orig. 2001;119(1):49-50. Fortschr Med Orig. 2001. PMID: 11935659 German.

10

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Eggermann T, Elbracht M, Haverkamp F, Schmidt C, Zerres K. Eggermann T, et al. Among authors: schmidt c. Clin Genet. 2007 Jun;71(6):597-8. doi: 10.1111/j.1399-0004.2007.00797.x. Clin Genet. 2007. PMID: 17539912 No abstract available.

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