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2p21 Deletions in hypotonia-cystinuria syndrome.
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
Cystinuria: an inborn cause of urolithiasis.
Eggermann T, Venghaus A, Zerres K.
Eggermann T, et al. Among authors: venghaus a.
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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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: venghaus a.
Pediatr Nephrol. 2014 Jan;29(1):155-9. doi: 10.1007/s00467-013-2617-2. Epub 2013 Sep 19.
Pediatr Nephrol. 2014.
PMID: 24045899
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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K.
Bergmann C, et al. Among authors: venghaus a.
J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27.
J Am Soc Nephrol. 2011.
PMID: 22034641
Free PMC article.
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Of mice and men - and guinea pigs?
Maxeiner S, Gebhardt S, Schweizer F, Venghaus AE, Krasteva-Christ G.
Maxeiner S, et al. Among authors: venghaus ae.
Ann Anat. 2021 Nov;238:151765. doi: 10.1016/j.aanat.2021.151765. Epub 2021 May 14.
Ann Anat. 2021.
PMID: 34000371
Review.
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