Caliebe A - Search Results

1

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, Hellenbroich Y. Weichert J, et al. Among authors: caliebe a. Eur J Med Genet. 2011 May-Jun;54(3):343-7. doi: 10.1016/j.ejmg.2011.02.009. Epub 2011 Mar 21. Eur J Med Genet. 2011. PMID: 21362501 Review.

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

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

4

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

5

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.

6

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Among authors: caliebe a. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792

7

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.

8

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

9

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tönnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A. Reutlinger C, et al. Among authors: caliebe a. Epilepsia. 2010 Sep;51(9):1870-3. doi: 10.1111/j.1528-1167.2010.02555.x. Epilepsia. 2010. PMID: 20384727 Free article.

10

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D. Mitter D, et al. Among authors: caliebe a. Am J Med Genet A. 2010 May;152A(5):1213-24. doi: 10.1002/ajmg.a.33344. Am J Med Genet A. 2010. PMID: 20425826

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