Caliebe A - Search Results

1

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

Friemel C, Ammerpohl O, Gutwein J, Schmutzler AG, Caliebe A, Kautza M, von Otte S, Siebert R, Bens S. Friemel C, et al. Among authors: caliebe a. Fertil Steril. 2014 Apr;101(4):1097-1103.e1. doi: 10.1016/j.fertnstert.2013.12.054. Epub 2014 Feb 10. Fertil Steril. 2014. PMID: 24524831 Free article.

2

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.

Weimer J, Metzke-Heidemann S, Plendl H, Caliebe A, Grunewald R, Ounap K, Tammur P, Jonat W, Bartsch O, Siebert R, Arnold N. Weimer J, et al. Among authors: caliebe a. Am J Med Genet A. 2006 Mar 1;140(5):488-95. doi: 10.1002/ajmg.a.31104. Am J Med Genet A. 2006. PMID: 16470789

3

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Chavarria-Soley G, et al. Among authors: caliebe a. J Glaucoma. 2006 Dec;15(6):499-504. doi: 10.1097/01.ijg.0000243467.28590.6a. J Glaucoma. 2006. PMID: 17106362

4

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

Martin-Subero JI, Bibikova M, Mackay D, Wickham-Garcia E, Sellami N, Richter J, Santer R, Caliebe A, Fan JB, Temple IK, Siebert R. Martin-Subero JI, et al. Among authors: caliebe a. Am J Med Genet A. 2008 Dec 15;146A(24):3227-9. doi: 10.1002/ajmg.a.32577. Am J Med Genet A. 2008. PMID: 19012334 No abstract available.

5

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278

6

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: caliebe a. Mol Cytogenet. 2010 Sep 5;3:16. doi: 10.1186/1755-8166-3-16. Mol Cytogenet. 2010. PMID: 20815924 Free PMC article.

7

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. Among authors: caliebe a. 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

8

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

Caliebe A, Martin Subero JI, Muhle H, Gesk S, Jänig U, Krause M, Plendl H, Stephani U, Siebert R, Eckmann-Scholz C. Caliebe A, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e505-9. doi: 10.1016/j.ejmg.2011.05.005. Epub 2011 Jun 16. Eur J Med Genet. 2011. PMID: 21736959

9

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: caliebe a. Mol Cytogenet. 2011 Dec 5;4:28. doi: 10.1186/1755-8166-4-28. Mol Cytogenet. 2011. PMID: 22136633 Free PMC article.

10

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: caliebe a. PLoS One. 2012;7(6):e39014. doi: 10.1371/journal.pone.0039014. Epub 2012 Jun 19. PLoS One. 2012. PMID: 22723920 Free PMC article.

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