Bens S - Search Results

1

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans.

Kolarova J, Ammerpohl O, Gutwein J, Welzel M, Baus I, Riepe FG, Eggermann T, Caliebe A, Holterhus PM, Siebert R, Bens S. Kolarova J, et al. Among authors: bens s. PLoS One. 2015 Mar 18;10(3):e0120463. doi: 10.1371/journal.pone.0120463. eCollection 2015. PLoS One. 2015. PMID: 25785847 Free PMC article.

2

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, Nuri Ozbek M, Leuschner I, Grötzinger J, Holterhus PM, Riepe FG. Bens S, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1301-8. doi: 10.1210/jc.2009-1176. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080861

3

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report.

Eckmann-Scholz C, Gesk S, Nagel I, Haake A, Bens S, Heidemann S, Kautza M, Timke C, Siebert R, Caliebe A. Eckmann-Scholz C, et al. Among authors: bens s. Mol Cytogenet. 2010 Sep 5;3:16. doi: 10.1186/1755-8166-3-16. Mol Cytogenet. 2010. PMID: 20815924 Free PMC article.

4

Androgen receptor mutations are associated with altered epigenomic programming as evidenced by HOXA5 methylation.

Bens S, Ammerpohl O, Martin-Subero JI, Appari M, Richter J, Hiort O, Werner R, Riepe FG, Siebert R, Holterhus PM. Bens S, et al. Sex Dev. 2011;5(2):70-6. doi: 10.1159/000323807. Epub 2011 Feb 11. Sex Dev. 2011. PMID: 21311178 Free article.

5

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Bens S, Haake A, Tönnies H, Vater I, Stephani U, Holterhus PM, Siebert R, Caliebe A. Bens S, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e501-4. doi: 10.1016/j.ejmg.2011.05.004. Epub 2011 Jun 7. Eur J Med Genet. 2011. PMID: 21700002

6

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Weimer J, Heidemann S, von Kaisenberg CS, Grote W, Arnold N, Bens S, Caliebe A. Weimer J, et al. Among authors: bens s. Mol Cytogenet. 2011 Dec 5;4:28. doi: 10.1186/1755-8166-4-28. Mol Cytogenet. 2011. PMID: 22136633 Free PMC article.

7

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.

Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG. Barbaro M, et al. Among authors: bens s. Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456342 Free article.

8

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.

Eckmann-Scholz C, Bens S, Kolarova J, Schneppenheim S, Caliebe A, Heidemann S, von Kaisenberg C, Kautza M, Jonat W, Siebert R, Ammerpohl O. Eckmann-Scholz C, et al. Among authors: bens s. PLoS One. 2012;7(6):e39014. doi: 10.1371/journal.pone.0039014. Epub 2012 Jun 19. PLoS One. 2012. PMID: 22723920 Free PMC article.

9

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Shah H, Bens S, Caliebe A, Graham JM Jr, Girisha KM. Shah H, et al. Among authors: bens s. Am J Med Genet A. 2012 Nov;158A(11):2941-5. doi: 10.1002/ajmg.a.35618. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987502 Free PMC article.

10

High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas.

Salaverria I, Martin-Guerrero I, Burkhardt B, Kreuz M, Zenz T, Oschlies I, Arnold N, Baudis M, Bens S, García-Orad A, Lisfeld J, Schwaenen C, Szczepanowski M, Wessendorf S, Pfreundschuh M, Trümper L, Klapper W, Siebert R. Salaverria I, et al. Among authors: bens s. Genes Chromosomes Cancer. 2013 Feb;52(2):150-5. doi: 10.1002/gcc.22014. Epub 2012 Oct 17. Genes Chromosomes Cancer. 2013. PMID: 23073988

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