Becker C - Search Results

1

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: becker c. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368

2

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Becker C, Nürnberg P. Sander T, et al. Among authors: becker c. Epilepsy Res. 2002 Apr;49(2):173-7. doi: 10.1016/s0920-1211(02)00025-6. Epilepsy Res. 2002. PMID: 12049805

3

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Leschik G, Becker C, Rüschendorf F, Rohde K, Mundlos S, Nürnberg P. Sander T, et al. Among authors: becker c. Epilepsy Res. 2002 Oct;51(3):249-55. doi: 10.1016/s0920-1211(02)00152-3. Epilepsy Res. 2002. PMID: 12399075

4

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.

Izzi C, Barbon A, Toliat MR, Heils A, Becker C, Nürnberg P, Sander T, Barlati S. Izzi C, et al. Among authors: becker c. Am J Med Genet B Neuropsychiatr Genet. 2003 Nov 15;123B(1):59-63. doi: 10.1002/ajmg.b.20024. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 14582146

5

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.

Knoblauch H, Bauerfeind A, Toliat MR, Becker C, Luganskaja T, Günther UP, Rohde K, Schuster H, Junghans C, Luft FC, Nürnberg P, Reich JG. Knoblauch H, et al. Among authors: becker c. Hum Mol Genet. 2004 May 15;13(10):993-1004. doi: 10.1093/hmg/ddh119. Epub 2004 Mar 25. Hum Mol Genet. 2004. PMID: 15044381

6

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: becker c. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

7

Molecular karyotyping using an SNP array for genomewide genotyping.

Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Rauch A, et al. Among authors: becker c. J Med Genet. 2004 Dec;41(12):916-22. doi: 10.1136/jmg.2004.022855. J Med Genet. 2004. PMID: 15591277 Free PMC article.

8

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ. Metherell LA, et al. Among authors: becker c. Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654338

9

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification.

Tzvetkov MV, Becker C, Kulle B, Nürnberg P, Brockmöller J, Wojnowski L. Tzvetkov MV, et al. Among authors: becker c. Electrophoresis. 2005 Feb;26(3):710-5. doi: 10.1002/elps.200410121. Electrophoresis. 2005. PMID: 15690424

10

Application of genomewide SNP arrays for detection of simulated susceptibility loci.

Kulle B, Schirmer M, Toliat MR, Suk A, Becker C, Tzvetkov MV, Brockmöller J, Bickeböller H, Hasenfuss G, Nürnberg P, Wojnowski L. Kulle B, et al. Among authors: becker c. Hum Mutat. 2005 Jun;25(6):557-65. doi: 10.1002/humu.20174. Hum Mutat. 2005. PMID: 15880731

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