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A nonsense mutation in MSX1 causes Witkop syndrome.
Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR. Jumlongras D, et al. Among authors: felbor u. Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16. Am J Hum Genet. 2001. PMID: 11369996 Free PMC article.
Neuronal loss and brain atrophy in mice lacking cathepsins B and L.
Felbor U, Kessler B, Mothes W, Goebel HH, Ploegh HL, Bronson RT, Olsen BR. Felbor U, et al. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):7883-8. doi: 10.1073/pnas.112632299. Epub 2002 Jun 4. Proc Natl Acad Sci U S A. 2002. PMID: 12048238 Free PMC article.
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH. Gehrig A, et al. Among authors: felbor u. J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641. J Med Genet. 1998. PMID: 9719369 Free PMC article.
91 results