Search Results - "Hamid, Ahmed B."
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Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human
Published in Current genomics (01-04-2018)“…Background: Cytogenetically visible chromosomal imbalances in humans are deleterious and adverse in the majority of the cases. However, healthy persons living…”
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Chromosome Microdissection on Semi‐Archived Material
Published in Cytometry. Part A (01-12-2019)“…Glass needle‐based chromosome microdissection (midi) is a standard approach developed in the 1980s and remains more frequently applied in testing than the…”
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Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell
Published in The journal of histochemistry and cytochemistry (01-09-2011)“…Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC…”
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Heterochromatic regions in Japanese quail chromosomes: comprehensive molecular-cytogenetic characterization and 3D mapping in interphase nucleus
Published in Chromosome research (01-09-2019)“…Chromosomes of Japanese quail ( Coturnix coturnix japonica , 2n=78), a galliform domestic species closely related to chicken, possess multiple heterochromatic…”
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Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma
Published in Translational neuroscience (01-01-2015)“…We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the…”
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Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
Published in Molecular cytogenetics (14-03-2012)“…Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic…”
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A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
Published in Molecular cytogenetics (12-11-2009)“…Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Here…”
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Mitotic stability of small supernumerary marker chromosomes depends on their shape and telomeres — A long term in vitro study
Published in Gene (01-12-2014)“…Mosaicism is present in more than 50% of the cases with small supernumerary marker chromosomes (sSMCs) and karyotype 47,XX,+mar/46,XX or 47,XY,+mar/46,XY…”
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Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
Published in Journal of pediatric genetics (Birmingham, Ala.) (01-09-2017)“…Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker…”
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Centromere activity in dicentric small supernumerary marker chromosomes
Published in Chromosome research (01-07-2010)“…Twenty-five dicentric small supernumerary marker chromosomes (sSMC) derived from #13/21, #14, #15, #18, and #22 were studied by immunohistochemistry for their…”
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Multicolor FISH methods in current clinical diagnostics
Published in Expert review of molecular diagnostics (01-04-2013)“…Multicolor FISH (mFISH) assays are currently indispensable for a precise description of derivative chromosomes. Routine application of such techniques on human…”
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Unusual Duplication in the Pericentromeric Region of Chromosome 9 in a Patient with Phenotypic Alterations
Published in Cytogenetic and genome research (01-01-2016)“…Several alterations involving the pericentromeric region of chromosome 9 are considered as normal population variants. These heterochromatic variants or…”
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Characterization of three small supernumerary marker chromosomes (sSMC) in humans
Published in The journal of maternal-fetal & neonatal medicine (01-01-2013)“…In the present study, three prenatally detected small supernumerary marker chromosomes (sSMC) were identified by banding cytogenetics and characterized in…”
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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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15
Human ring chromosomes and small supernumerary marker chromosomes—do they have telomeres?
Published in Chromosome research (01-10-2012)“…Ring chromosomes and small supernumerary marker chromosomes (sSMC) are enigmatic types of derivative chromosomes, in which the telomeres are thought to play a…”
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Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines
Published in Cytogenetic and genome research (01-01-2014)“…Small supernumerary marker chromosomes (sSMC) are known for being present in mosaic form as 47,+mar/46 in >50% of the cases with this kind of extra…”
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Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Published in Current genomics (01-09-2010)“…Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome…”
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Complex small supernumerary marker chromosomes - an update
Published in Molecular cytogenetics (31-10-2013)“…Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material…”
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A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement
Published in Journal of pediatric genetics (Birmingham, Ala.) (01-12-2015)“…Complex small supernumerary marker chromosomes (sSMCs) constitute one of the smallest subsets within the patients with an sSMC. Complex sSMCs consist of…”
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How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set
Published in Journal of applied genetics (01-08-2012)“…Here a new fluorescence in situ hybridization (FISH-) based probe set is presented and its possible applications are highlighted in 34 exemplary clinical…”
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