Caliebe A - Search Results

1

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.

2

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

Jenderny J, Caliebe A, Beyer C, Grote W. Jenderny J, et al. Among authors: caliebe a. J Med Genet. 1993 Nov;30(11):964-5. doi: 10.1136/jmg.30.11.964. J Med Genet. 1993. PMID: 8301656 Free PMC article.

3

Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.

von Kaisenberg CS, Caliebe A, Krams M, Hackelöer BJ, Jonat W. von Kaisenberg CS, et al. Among authors: caliebe a. Am J Med Genet. 2000 Dec 18;95(5):425-8. Am J Med Genet. 2000. PMID: 11146460

4

[Molecular variants of fibrinogen].

Plendl H, Caliebe A, Grote W. Plendl H, et al. Among authors: caliebe a. Hamostaseologie. 2002 May;22(2):36-41. Hamostaseologie. 2002. PMID: 12193975 Review. German.

5

Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.

Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A, Janssen D, Jonat W, Grote W, von Kaisenberg CS. Metzke-Heidemann S, et al. Among authors: caliebe a. Am J Med Genet A. 2004 Apr 15;126A(2):197-203. doi: 10.1002/ajmg.a.20563. Am J Med Genet A. 2004. PMID: 15057986

6

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

7

Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2).

Heidemann S, Plendl H, Vater I, Gesk S, Exeler-Telker JR, Grote W, Siebert R, Caliebe A. Heidemann S, et al. Among authors: caliebe a. Prenat Diagn. 2010 Feb;30(2):183-5. doi: 10.1002/pd.2436. Prenat Diagn. 2010. PMID: 20063327 No abstract available.

8

Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21.

Schippert C, Bloechle M, Marr S, Caliebe A, Siebert R, Hillemanns P, von Kaisenberg CS. Schippert C, et al. Among authors: caliebe a. Hum Reprod. 2010 Apr;25(4):1081-2. doi: 10.1093/humrep/dep462. Epub 2010 Jan 26. Hum Reprod. 2010. PMID: 20106838 No abstract available.

9

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.

10

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

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