Siebert R - Search Results

1

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

2

Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients.

Pankau R, Partsch CJ, Gosch A, Siebert R, Schneider M, Schneppenheim R, Winter M, Wessel A. Pankau R, et al. Among authors: siebert r. Am J Med Genet. 2000 Apr 10;91(4):322-4. doi: 10.1002/(sici)1096-8628(20000410)91:4<322::aid-ajmg15>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10766991 No abstract available.

3

Familial Williams-Beuren syndrome showing varying clinical expression.

Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A, Partsch CJ. Pankau R, et al. Among authors: siebert r. Am J Med Genet. 2001 Feb 1;98(4):324-9. doi: 10.1002/1096-8628(20010201)98:4<324::aid-ajmg1103>3.0.co;2-5. Am J Med Genet. 2001. PMID: 11170076 Review.

4

Central precocious puberty in girls with Williams syndrome.

Partsch CJ, Japing I, Siebert R, Gosch A, Wessel A, Sippell WG, Pankau R. Partsch CJ, et al. Among authors: siebert r. J Pediatr. 2002 Sep;141(3):441-4. doi: 10.1067/mpd.2002.127280. J Pediatr. 2002. PMID: 12219071

5

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control.

Frohnauer J, Caliebe A, Gesk S, Partsch CJ, Siebert R, Pankau R, Jenderny J. Frohnauer J, et al. Among authors: siebert r. Mol Cytogenet. 2010 Nov 5;3:21. doi: 10.1186/1755-8166-3-21. Mol Cytogenet. 2010. PMID: 21054846 Free PMC article.

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: 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

7

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.

8

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: siebert r. 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

9

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

Zaki MS, Gillessen-Kaesbach G, Vater I, Caliebe A, Siebert R, Kamel AK, Mohamed AM, Mazen I. Zaki MS, et al. Among authors: siebert r. Eur J Med Genet. 2012 Jan;55(1):43-8. doi: 10.1016/j.ejmg.2011.09.003. Epub 2011 Oct 19. Eur J Med Genet. 2012. PMID: 22061479

10

A familial disorder of altered DNA-methylation.

Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R. Caliebe A, et al. Among authors: siebert r. J Med Genet. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721835

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