Search Results - "Polityko, Anna D"
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A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin: HCM-FISH
Published in The journal of histochemistry and cytochemistry (01-07-2012)“…A new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The…”
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Heteromorphic variants of chromosome 9
Published in Molecular cytogenetics (01-04-2013)“…Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning…”
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Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams–Beuren syndrome patients
Published in Mutation research (18-09-2011)“…Williams–Beuren syndrome (WBS) is the chromosomal disorder arising from a hemizygous microdeletion at 7q11.23. The present study was focused on a comparative…”
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Biomarkers for genome instability in some genetic disorders: a pilot study
Published in Biomarkers (01-05-2012)“…Context: The study of genome integrity in some genetic disorders has diagnostic and prognostic importance because of the evident relationship between genome…”
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Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome
Published in European journal of medical genetics (01-07-2009)“…Abstract An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular…”
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Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics
Published in The journal of histochemistry and cytochemistry (01-03-2005)“…Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis of PKS is still complicated…”
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