Baasner A - Search Results

1

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: baasner a. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.

2

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT. Beck BB, et al. Among authors: baasner a. Am J Kidney Dis. 2011 Nov;58(5):821-5. doi: 10.1053/j.ajkd.2011.06.029. Epub 2011 Sep 8. Am J Kidney Dis. 2011. PMID: 21903317 Free PMC article.

3

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B. Beck BB, et al. Among authors: baasner a. Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781098 Free PMC article.

4

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

Robbiano A, Mandrile G, De Marchi M, Beck B, Baasner A, Murer L, Benetti E, Giachino D. Robbiano A, et al. Among authors: baasner a. Hum Genet. 2010 Apr;127(4):468. Hum Genet. 2010. PMID: 21488232 No abstract available.

5

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R. Wirth B, et al. Among authors: baasner a. Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1. Hum Genet. 2006. PMID: 16508748

6

The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P. Nölle A, et al. Among authors: baasner a. Hum Mol Genet. 2011 Dec 15;20(24):4865-78. doi: 10.1093/hmg/ddr425. Epub 2011 Sep 14. Hum Mol Genet. 2011. PMID: 21920940

7

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J. Wirth B, et al. Among authors: baasner a. Eur J Hum Genet. 1995;3(1):56-60. doi: 10.1159/000472274. Eur J Hum Genet. 1995. PMID: 7767657

8

Allele and genotype frequencies for the STR locus D18S51 in a western German population.

Baasner A, Madea B. Baasner A, et al. J Forensic Sci. 1999 Mar;44(2):450-1. J Forensic Sci. 1999. PMID: 10097381

9

Allelic distribution for two short tandem repeat loci: D10S2325 and D20S161.

Baasner A, Madea B. Baasner A, et al. J Forensic Sci. 2000 Nov;45(6):1349-51. J Forensic Sci. 2000. PMID: 11110198 No abstract available.

10

Fatal parvovirus B19 myocarditis in an 8-year-old boy.

Dettmeyer R, Kandolf R, Baasner A, Banaschak S, Eis-Hübinger AM, Madea B. Dettmeyer R, et al. Among authors: baasner a. J Forensic Sci. 2003 Jan;48(1):183-6. J Forensic Sci. 2003. PMID: 12570225

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