Klopp N - Search Results

1

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Graw J, Klopp N, Illig T, Preising MN, Lorenz B. Graw J, et al. Among authors: klopp n. Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):912-9. doi: 10.1007/s00417-005-0234-x. Epub 2006 Feb 2. Graefes Arch Clin Exp Ophthalmol. 2006. PMID: 16453125

2

Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

Klopp N, Favor J, Löster J, Lutz RB, Neuhäuser-Klaus A, Prescott A, Pretsch W, Quinlan RA, Sandilands A, Vrensen GF, Graw J. Klopp N, et al. Genomics. 1998 Sep 1;52(2):152-8. doi: 10.1006/geno.1998.5417. Genomics. 1998. PMID: 9782080

3

Aphakia (ak), a mouse mutation affecting early eye development: fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression pattern.

Grimm C, Chatterjee B, Favor J, Immervoll T, Löster J, Klopp N, Sandulache R, Graw J. Grimm C, et al. Among authors: klopp n. Dev Genet. 1998;23(4):299-316. doi: 10.1002/(SICI)1520-6408(1998)23:4<299::AID-DVG5>3.0.CO;2-G. Dev Genet. 1998. PMID: 9883582

4

Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.

Graw J, Jung M, Löster J, Klopp N, Soewarto D, Fella C, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M. Graw J, et al. Among authors: klopp n. Genomics. 1999 Nov 15;62(1):67-73. doi: 10.1006/geno.1999.5974. Genomics. 1999. PMID: 10585769

5

Characterization of a 1-bp deletion in the gammaE-crystallin gene leading to a nuclear and zonular cataract in the mouse.

Klopp N, Löster J, Graw J. Klopp N, et al. Invest Ophthalmol Vis Sci. 2001 Jan;42(1):183-7. Invest Ophthalmol Vis Sci. 2001. PMID: 11133865

6

Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.

Graw J, Klopp N, Löster J, Soewarto D, Fuchs H, Becker-Follmann J, Reis A, Wolf E, Balling R, Habré de Angelis M. Graw J, et al. Among authors: klopp n. Genetics. 2001 Mar;157(3):1313-20. doi: 10.1093/genetics/157.3.1313. Genetics. 2001. PMID: 11238416 Free PMC article.

7

STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study.

Duetsch G, Illig T, Loesgen S, Rohde K, Klopp N, Herbon N, Gohlke H, Altmueller J, Wjst M. Duetsch G, et al. Among authors: klopp n. Hum Mol Genet. 2002 Mar 15;11(6):613-21. doi: 10.1093/hmg/11.6.613. Hum Mol Genet. 2002. PMID: 11912176

8

11 hemophilia A patients without mutations in the factor VIII encoding gene.

Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. Klopp N, et al. Thromb Haemost. 2002 Aug;88(2):357-60. Thromb Haemost. 2002. PMID: 12195713 No abstract available.

9

Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.

Graw J, Neuhäuser-Klaus A, Löster J, Klopp N, Favor J. Graw J, et al. Among authors: klopp n. Genetics. 2002 Aug;161(4):1633-40. doi: 10.1093/genetics/161.4.1633. Genetics. 2002. PMID: 12196406 Free PMC article.

10

Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity.

Graw J, Klopp N, Neuhäuser-Klaus A, Favor J, Löster J. Graw J, et al. Among authors: klopp n. Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2998-3002. Invest Ophthalmol Vis Sci. 2002. PMID: 12202521

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