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Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A. Zenker M, et al. Among authors: pitz s. Hum Mol Genet. 2004 Nov 1;13(21):2625-32. doi: 10.1093/hmg/ddh284. Epub 2004 Sep 14. Hum Mol Genet. 2004. PMID: 15367484
Subclinical optic neuropathy in Fabry disease.
Pitz S, Grube-Einwald K, Renieri G, Reinke J. Pitz S, et al. Ophthalmic Genet. 2009 Dec;30(4):165-71. doi: 10.3109/13816810903148004. Ophthalmic Genet. 2009. PMID: 19852573
[Update on endocrine orbitopathy].
Ponto KA, Kahaly GJ, Pitz S. Ponto KA, et al. Among authors: pitz s. Klin Monbl Augenheilkd. 2009 Feb;226(2):R13-28; quiz R29-31. doi: 10.1055/s-2008-1038911. Epub 2009 Feb 10. Klin Monbl Augenheilkd. 2009. PMID: 19206039 Review. German. No abstract available.
162 results