Siebert R - Search Results

1

SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.

Bens S, Zichner T, Stütz AM, Caliebe A, Wagener R, Hoff K, Korbel JO, von Bismarck P, Siebert R. Bens S, et al. Among authors: siebert r. Genes Immun. 2014 Apr-May;15(3):190-4. doi: 10.1038/gene.2013.73. Epub 2014 Jan 23. Genes Immun. 2014. PMID: 24452265

2

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: siebert r. 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

3

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: siebert r. 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

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: siebert r. 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

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: siebert r. Prenat Diagn. 2010 Feb;30(2):183-5. doi: 10.1002/pd.2436. Prenat Diagn. 2010. PMID: 20063327 No abstract available.

6

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. Among authors: siebert r. 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

7

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

8

Malignant melanoma and Wiedemann-Beckwith syndrome in childhood.

Livingstone E, Caliebe A, Egberts F, Proksch E, Buiting K, Schubert C, Claviez A, Siebert R, Hauschild A. Livingstone E, et al. Among authors: siebert r. Klin Padiatr. 2010 Nov;222(6):388-90. doi: 10.1055/s-0030-1267152. Epub 2010 Nov 5. Klin Padiatr. 2010. PMID: 21058226

9

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. Among authors: siebert r. Sex Dev. 2011;5(2):70-6. doi: 10.1159/000323807. Epub 2011 Feb 11. Sex Dev. 2011. PMID: 21311178 Free 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: siebert r. 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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