Zerres K - Search Results

1

Clinical utility gene card for: Cystinuria.

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Eggermann T, et al. Among authors: zerres k. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863055 Free PMC article. No abstract available.

2

Cystinuria: an inborn cause of urolithiasis.

Eggermann T, Venghaus A, Zerres K. Eggermann T, et al. Among authors: zerres k. Orphanet J Rare Dis. 2012 Apr 5;7:19. doi: 10.1186/1750-1172-7-19. Orphanet J Rare Dis. 2012. PMID: 22480232 Free PMC article. Review.

3

Clinical utility gene card for: proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510849 Free PMC article. No abstract available.

4

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20. Eur J Hum Genet. 2015. PMID: 25990799 Free PMC article. No abstract available.

5

Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

Eggermann T, Zerres K. Eggermann T, et al. Among authors: zerres k. Mol Diagn. 2003;7(2):113-7. doi: 10.1007/BF03260026. Mol Diagn. 2003. PMID: 14580230

6

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S. Eggermann T, et al. Among authors: zerres k. Eur J Hum Genet. 2005 Mar;13(3):309-13. doi: 10.1038/sj.ejhg.5201268. Eur J Hum Genet. 2005. PMID: 15586177

7

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. Among authors: zerres k. Mol Genet Metab. 2005 Feb;84(2):172-5. doi: 10.1016/j.ymgme.2004.08.018. Mol Genet Metab. 2005. PMID: 15670723

8

2p21 Deletions in hypotonia-cystinuria syndrome.

Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R. Eggermann T, et al. Among authors: zerres k. Eur J Med Genet. 2012 Oct;55(10):561-3. doi: 10.1016/j.ejmg.2012.06.008. Epub 2012 Jul 17. Eur J Med Genet. 2012. PMID: 22766003

9

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. Among authors: zerres k. Urol Res. 2004 May;32(2):75-8. doi: 10.1007/s00240-004-0405-y. Epub 2004 Feb 26. Urol Res. 2004. PMID: 14991253

10

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: zerres k. Kidney Int. 2002 Oct;62(4):1136-42. doi: 10.1111/j.1523-1755.2002.kid552.x. Kidney Int. 2002. PMID: 12234283 Free article.

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