Seemanová E - Search Results

1

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G. Bartsch O, et al. Among authors: seemanova e. J Med Genet. 2002 Jul;39(7):496-501. doi: 10.1136/jmg.39.7.496. J Med Genet. 2002. PMID: 12114483 Free PMC article. No abstract available.

2

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. Bartsch O, et al. Among authors: seemanova e. Hum Genet. 2005 Sep;117(5):485-93. doi: 10.1007/s00439-005-1331-y. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021471

3

Mulibrey nanism and Wilms tumor.

Seemanová E, Bartsch O. Seemanová E, et al. Am J Med Genet. 1999 Jul 2;85(1):76-8. doi: 10.1002/(sici)1096-8628(19990702)85:1<76::aid-ajmg12>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10377015 No abstract available.

4

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM. Bartsch O, et al. Among authors: seemanova e. Hum Genet. 2006 Sep;120(2):179-86. doi: 10.1007/s00439-006-0215-0. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783566

5

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.

Bartsch O, Kress W, Wagner A, Seemanova E. Bartsch O, et al. Among authors: seemanova e. Cytogenet Cell Genet. 1999;85(3-4):310-4. doi: 10.1159/000015284. Cytogenet Cell Genet. 1999. PMID: 10449925

6

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: seemanova e. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262

7

Allelic heterogeneity of alkaptonuria in Central Europe.

Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W. Müller CR, et al. Among authors: seemanova e. Eur J Hum Genet. 1999 Sep;7(6):645-51. doi: 10.1038/sj.ejhg.5200343. Eur J Hum Genet. 1999. PMID: 10482952

8

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K. Harmsen MB, et al. Among authors: seemanova e. Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277062 Free PMC article.

9

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E. Bartsch O, et al. Among authors: seemanova e. Cytogenet Genome Res. 2007;119(1-2):158-64. doi: 10.1159/000109634. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160797

10

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: seemanova e. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640

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