Bartels I - Search Results

1

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K. Schmidt T, et al. Among authors: bartels i. Cytogenet Genome Res. 2014;142(1):1-6. doi: 10.1159/000355436. Epub 2013 Oct 11. Cytogenet Genome Res. 2014. PMID: 24135068

2

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.

Trappe R, Böhm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfeind P. Trappe R, et al. Among authors: bartels i. Cytogenet Genome Res. 2002;98(1):1-8. doi: 10.1159/000068533. Cytogenet Genome Res. 2002. PMID: 12584434 Review.

3

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation.

Bartels I, Schlueter G, Liehr T, von Eggeling F, Starke H, Glaubitz R, Burfeind P. Bartels I, et al. Cytogenet Genome Res. 2003;101(2):103-5. doi: 10.1159/000074163. Cytogenet Genome Res. 2003. PMID: 14610348

4

A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M. Schmidt T, et al. Among authors: bartels i. Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6. Cytogenet Genome Res. 2013. PMID: 23051634

5

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. Sauter SM, et al. Among authors: bartels i. Am J Med Genet A. 2007 May 15;143A(10):1091-9. doi: 10.1002/ajmg.a.31686. Am J Med Genet A. 2007. PMID: 17431920

6

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I. Pauli S, et al. Among authors: bartels i. Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4. Eur J Med Genet. 2012. PMID: 22677035

7

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.

Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M. Bartels I, et al. Eur J Med Genet. 2013 Aug;56(8):458-62. doi: 10.1016/j.ejmg.2013.06.002. Epub 2013 Jun 26. Eur J Med Genet. 2013. PMID: 23811035

8

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.

von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B. von Beust G, et al. Among authors: bartels i. Am J Med Genet A. 2005 Aug 15;137(1):59-64. doi: 10.1002/ajmg.a.30835. Am J Med Genet A. 2005. PMID: 16007665 Review.

9

Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?

Liehr T, Bartels I, Zoll B, Ewers E, Mrasek K, Kosyakova N, Merkas M, Hamid AB, von Eggeling F, Posorski N, Weise A. Liehr T, et al. Among authors: bartels i. Cytogenet Genome Res. 2011;132(1-2):121-3. doi: 10.1159/000316393. Epub 2010 Jul 20. Cytogenet Genome Res. 2011. PMID: 20639618

10

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.

Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T. Bartels I, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):133-8. doi: 10.1016/j.ejmg.2006.10.007. Epub 2006 Nov 10. Eur J Med Genet. 2007. PMID: 17174164

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