Bartels I - Search Results

1

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: bartels i. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362

2

Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature.

Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, Seidel J, Emmanuil N, Petesen M, Polityko A, Dufke A, Iourov I, Trifonov V, Vermeesch J, Weise A. Liehr T, et al. Among authors: bartels i. Sex Dev. 2007;1(6):353-62. doi: 10.1159/000111767. Epub 2008 Jan 18. Sex Dev. 2007. PMID: 18391547 Review.

3

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

4

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

5

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.

6

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

7

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

8

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.

9

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.

Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Küpferling P, Süss F, Kunze H, Weise A, Liehr T, Mrasek K. Manvelyan M, et al. Among authors: bartels i. Int J Mol Med. 2007 Jun;19(6):855-64. doi: 10.3892/ijmm.19.6.855. Int J Mol Med. 2007. PMID: 17487417

10

Maternal levels of pregnancy-specific beta 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down's syndrome.

Bartels I, Lindemann A. Bartels I, et al. Hum Genet. 1988 Sep;80(1):46-8. doi: 10.1007/BF00451454. Hum Genet. 1988. PMID: 2971018

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