Zimmermann K - Search Results

1

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.

Hoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C. Hoyer-Kuhn H, et al. Among authors: zimmermann k. J Bone Miner Res. 2014 Jun;29(6):1387-91. doi: 10.1002/jbmr.2156. J Bone Miner Res. 2014. PMID: 24293101 Free article.

2

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: zimmermann k. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

3

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.

Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Among authors: zimmermann k. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.

4

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.

Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmüller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schönau E, Wirth R, Hammerschmidt M, Nürnberg P, Wollnik B, Carney TJ. Asharani PV, et al. Among authors: zimmermann k. Am J Hum Genet. 2012 Apr 6;90(4):661-74. doi: 10.1016/j.ajhg.2012.02.026. Am J Hum Genet. 2012. PMID: 22482805 Free PMC article.

5

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B. Brichta L, et al. Among authors: zimmermann k. Hum Genet. 2008 Mar;123(2):141-53. doi: 10.1007/s00439-007-0455-7. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172693

6

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.

Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C. Erger F, et al. Among authors: zimmermann k. Eur J Hum Genet. 2018 Sep;26(9):1392-1395. doi: 10.1038/s41431-018-0195-2. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891879 Free PMC article.

7

VPA response in SMA is suppressed by the fatty acid translocase CD36.

Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B. Garbes L, et al. Among authors: zimmermann k. Hum Mol Genet. 2013 Jan 15;22(2):398-407. doi: 10.1093/hmg/dds437. Epub 2012 Oct 16. Hum Mol Genet. 2013. PMID: 23077215

8

Network migration of ethnic Germans.

Bauer T, Zimmermann KF. Bauer T, et al. Among authors: zimmermann kf. Int Migr Rev. 1997 Spring;31(1):143-9. Int Migr Rev. 1997. PMID: 12320902

9

European migration policy.

Zimmermann KF. Zimmermann KF. Int Econ Insights. 1992 Mar-Apr;(3):7-14. Int Econ Insights. 1992. PMID: 12285410

10

Savings, remittances, and return migration.

Merkle L, Zimmermann KF. Merkle L, et al. Among authors: zimmermann kf. Econ Lett. 1992 Jan;38(1):77-81. doi: 10.1016/0165-1765(92)90165-u. Econ Lett. 1992. PMID: 12317255

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