Eggermann T - Search Results

1

Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).

Buxmann H, Eggermann T, Lorenz D, Sewell AC, Böhles H, Schlößer RL, Merz E. Buxmann H, et al. Among authors: eggermann t. Ultraschall Med. 2014 Oct;35(5):473-4. doi: 10.1055/s-0034-1366442. Epub 2014 May 13. Ultraschall Med. 2014. PMID: 24824759 No abstract available.

2

[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: eggermann t. Fortschr Med Orig. 2001;119(1):49-50. Fortschr Med Orig. 2001. PMID: 11935659 German.

3

Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0546.

Brauers E, Eggermann T. Brauers E, et al. Among authors: eggermann t. Hum Genet. 2006 Feb;118(6):780. Hum Genet. 2006. PMID: 17297702 No abstract available.

4

Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0547.

Brauers E, Eggermann T. Brauers E, et al. Among authors: eggermann t. Hum Genet. 2006 Feb;118(6):780. Hum Genet. 2006. PMID: 17297703 No abstract available.

5

Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0543.

Eggermann T, Brauers E. Eggermann T, et al. Hum Genet. 2006 Feb;118(6):779. Hum Genet. 2006. PMID: 17297698 No abstract available.

6

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T. Eggermann T. Hum Genet. 2009 Aug;126(2):329. Hum Genet. 2009. PMID: 19693991 No abstract available.

7

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T. Eggermann T. Hum Genet. 2009 Aug;126(2):330. doi: 10.1007/s00439-009-0685-y. Hum Genet. 2009. PMID: 19495797 No abstract available.

8

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U. Kummer S, et al. Among authors: eggermann t. Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19. Pediatr Nephrol. 2014. PMID: 24045899

9

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. 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.

10

Cystinuria: an inborn cause of urolithiasis.

Eggermann T, Venghaus A, Zerres K. Eggermann T, et al. 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.

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