Caliebe A - Search Results

1

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

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

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.

Caliebe A, Waltz S, Jenderny J. Caliebe A, et al. Clin Genet. 1997 Aug;52(2):116-9. doi: 10.1111/j.1399-0004.1997.tb02528.x. Clin Genet. 1997. PMID: 9298747 Review.

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

Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome.

Partsch CJ, Siebert R, Caliebe A, Gosch A, Wessel A, Pankau R. Partsch CJ, et al. Among authors: caliebe a. Am J Med Genet A. 2005 Aug 15;137(1):52-4. doi: 10.1002/ajmg.a.30865. Am J Med Genet A. 2005. PMID: 16007633

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

[Caudal regression syndrome - caudal agenesis].

van Baalen A, Jacobs J, Alfke K, Caliebe A, Stephani U. van Baalen A, et al. Among authors: caliebe a. Klin Padiatr. 2008 Mar-Apr;220(2):86-7. doi: 10.1055/s-2007-993193. Epub 2007 Dec 21. Klin Padiatr. 2008. PMID: 18098097 German.

8

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.

9

Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?

Helbig I, Fölster-Holst R, Brasch J, Hausser I, van Baalen A, Muhle H, Alfke K, Caliebe A, Stephani U, Happle R. Helbig I, et al. Among authors: caliebe a. Eur J Pediatr. 2010 Apr;169(4):495-500. doi: 10.1007/s00431-009-1046-5. Epub 2009 Aug 26. Eur J Pediatr. 2010. PMID: 19707786

10

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.

Caliebe A, Vater I, Plendl H, Gesk S, Siebert R, Cremer FW, Klein-Hitpass L. Caliebe A, et al. Mol Genet Metab. 2010 Feb;99(2):184-5. doi: 10.1016/j.ymgme.2009.10.011. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19932039 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

223 results

Search Page

Filters