K Mrasek

Author PubWeight™ 26.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006 2.52
2 Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries. Cytogenet Genome Res 2002 1.39
3 Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 2006 1.15
4 Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res 2007 1.09
5 Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med 2007 1.07
6 Multitude multicolor chromosome banding (mMCB) - a comprehensive one-step multicolor FISH banding method. Cytogenet Genome Res 2003 1.04
7 Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sex Dev 2008 1.00
8 Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. Int J Mol Med 2008 1.00
9 A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A 2006 0.98
10 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res 2009 0.94
11 Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient. Cytogenet Genome Res 2005 0.93
12 Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements. Balkan J Med Genet 2011 0.90
13 The hierarchically organized splitting of chromosome bands into sub-bands analyzed by multicolor banding (MCB). Cytogenet Genome Res 2004 0.86
14 An HDAC1-binding domain within FATS bridges p21 turnover to radiation-induced tumorigenesis. Oncogene 2010 0.85
15 Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia. Mol Syndromol 2012 0.85
16 Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p? Cytogenet Genome Res 2010 0.85
17 Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn 2007 0.85
18 Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm. Mol Hum Reprod 2007 0.84
19 Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes. Cytogenet Genome Res 2012 0.84
20 New insights into the evolution of chromosome 1. Cytogenet Genome Res 2005 0.83
21 Molecular cytogenetic characterization of the mantle cell lymphoma cell line GRANTA-519. Cancer Genet Cytogenet 2004 0.82
22 Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis. Cytogenet Genome Res 2013 0.80
23 Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines. Cytogenet Genome Res 2006 0.80
24 Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases. Hum Reprod 2009 0.79
25 Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. Am J Med Genet A 2007 0.78
26 De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies. Cytogenet Genome Res 2006 0.77
27 Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face. Cytogenet Genome Res 2006 0.77
28 Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations. Am J Med Genet A 2010 0.75
29 Different breakage-prone regions on chromosome 1 detected in t(11;14)-positive mantle cell lymphoma cell lines and multiple myeloma cell lines are associated with different tumor progression-related mechanisms. Cytogenet Genome Res 2006 0.75