Introduction to Molecular Cytogenetics

Submitted: Saturday 31st of July 2010 06:17:57 PM
Submitted by: egf
Language: English
Educational levels: qc1, qc2, qc3

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Abstract

This resource contains materials from advanced courses of cytogenetics and it is especially focused on Molecular Cytogenetics.

Resources

My group in Bari has been involved in the last years in producing resources for molecular cytogenetics. Large panels of painting probes, partial chromosome paints, alphoid probes, and YAC clones were created and/or characterized. These resources are available in our collection. The Human Genome Pr ...
Our group has generated a large collection of resources for Molecular Cytogenetics (see the Web site http://www.biologia.uniba.it/rmc/ ). Panels of Painting Probes, Partial Chromosome Paints, and YAC clones were created and characterized. The human genome sequencing project, in the meanwhile, ...
a workshop by M. Rocchi about RESOURCES FOR MOLECULAR CYTOGENETICS
a workshop by M. Rocchi about RESOURCES FOR MOLECULAR CYTOGENETICS
Introduction Since 1993, when the first polymerase chain reaction (PCR) based DNA amplifications were on-line monitored1, the real-time PCR technology has successfully evolved to a reliable and easy to use standard method for quantification of nucleic acid sequences. The basic principle of real-tim ...
Introduction Since 1993, when the first polymerase chain reaction (PCR) based DNA amplifications were on-line monitored1, the real-time PCR technology has successfully evolved to a reliable and easy to use standard method for quantification of nucleic acid sequences. The basic principle of real-tim ...
Autosomal chromosome aberrations go along with patterns of dysmorphic signs, congenital malformations, growth and mental retardation. The most consistent finding in autosomal aberration is mental deficiency while the must useful finding for clinical recognition of a chromosome aberration is the patt ...
A part of clinical genetics course: From embryology to dysmorphology (Tunis, Tunisia, November 20-24, 2004). Autosomal chromosome aberrations go along with patterns of dysmorphic signs, congenital malformations, growth and mental retardation. The most consistent finding in autosomal aberration is me ...
a lecture about breakpoint mapping by H. Fiegler from 2006
A lecture about breakpoint mapping
Array based chromosomal genomic hybridisation (array CGH) has dramatically increased the level of resolution for detection of DNA copy number alterations. Further challenges now emerge through the simultaneous availability of transcriptome, miRNAome and epigenome profiles. One particular daunting ta ...
Array based chromosomal genomic hybridisation (array CGH) has dramatically increased the level of resolution for detection of DNA copy number alterations. Further challenges now emerge through the simultaneous availability of transcriptome, miRNAome and epigenome profiles. One particular daunting ta ...
Chromosome banding is one of the most widely used techniques in routine cytogenetics and has been invaluable in the search for chromosomal aberrations causally related to e.g. congenital mental retardation and malformation syndromes. Conceptual and technical developments in molecular cytogenetics ar ...
Chromosome banding is one of the most widely used techniques in routine cytogenetics and has been invaluable in the search for chromosomal aberrations causally related to e.g. congenital mental retardation and malformation syndromes. Conceptual and technical developments in molecular cytogenetics ar ...

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Keywords

18s ribosomal rna, abnormal, acentric, acetylation, acrocentric, affected, agarose gel, algorithm, allele, allele frequency, alu-pcr, amino acid, amniotic fluid, Analysis of the entire coding region: Mutation scanning, Analysis of the entire coding region: Sequence analysis, ancestral haplotype, aneuploidy, annealing, apolipoprotein, apoptosis, Array genomic hybridization, artificial insemination by donor, ascertainment, association, association studies, autism, autosomal, autosomal dominant, autosome, b lymphocytes, bacterial artificial chromosome, balanced translocation, band, banding, base, base pair, benign variant, beta, bias of ascertainment, bioinformatics, biomarker, biotechnology, break-point cluster, candidate gene, carrier, carrier testing, cell, cell line, centimorgan, centromere, chromatin, chromosome, chromosome abnormality, chromosome translocation, cis configuration, clinical geneticist, clinical genetics, clone, cloning, common disease, comparative genomics, complement, Complementary DNA, congenital, contigs, contiguous gene syndrome, control gene, copy number polymorphism, correlation, cosmid, coupling, critical region, Cytogenetic Abnormality, cytogenetics, de novo, degenerate oligonucleotide-primed pcr, deletion, deoxyribonucleic acid, derivative chromosome, diallelic, diploid, disjunction, disruption, dna haplotype, dna microarray, domain, dominant, duplication, dynamic mutation, dysmorphology, dysplasia, electrophoresis, enzyme, ER, exon, expansion, expectation maximization algorithm, expression, familial, fixed, flow karyotype, fluorescent activated cell sorting, fluorescent in situ hybridization, founder, fragile site, frameshift mutation, framework map, frequency, g band, gene, gene conversion, gene expression, genetic disease, genetic map, genetic mapping, genetic marker, genetic variation, genetics, genome, genome wide association, genomic dna, genomics, genotype, genotyping, germ cell, germline, gray, haploid, haplotype, hapmap project, helicase, helix, hemizygous, heredity, heterochromatin, heterogeneity, heteromorphism, heterozygote, heterozygous, high throughput, homologous, homologous chromosome, homologous recombination, homozygous, hormone, hotspot, housekeeping gene, human genome project, Human immunodeficiency virus, hybrid, hybridization, hydatidiform mole, immune system, immunoglobulin, implantation, in situ hybridization, in vivo, incidence, informative, inherited, innate immunity, insertion, internal control, interphase, interstitial deletion, inv, inversion, isochromosome, isolate, karyotype, kilobase, library, ligation, linkage, linkage disequilibrium, locus, long interspersed nuclear element, long terminal repeat, loss of heterozygosity, malformation, marker, marker chromosome, maternal, meiosis, mendelian inheritance, messenger rna, metabolism, metaphase, microarray, microdeletion, microdeletion syndrome, microrna, microsatellite, miscarriage, missense mutation, molecular genetics, monogenic, monozygotic twins, mosaic, mosaicism, multiple alleles, mutation, mutation rate, myeloma, nondisjunction, nonsense mutation, northern blot, nucleotide, nucleus, oligonucleotide, oncogene, oncogenic, open reading frame, orthologous, p1-derived artificial chromosome, paint, paracentric inversion, paralogous, parental, pedigree, penetrance, peptide, pericentric, pericentric inversion, pharmacogenetics, phase, phenotype, phenotypic variation, physical map, placenta, point mutation, polymerase, polymerase chain reaction, polymorphism, population, power, predisposition, preimplantation genetic diagnosis, prevalence, primer, probe, processing, propagation, protein, pseudoautosomal, pseudogene, quantitative, quantitative PCR, radiation absorbed dose, radiation hybrid, real-time pcr, rearrangement, recessive, reciprocal translocation, recombinant, recombination, repeat unit, restriction enzyme, restriction site, reverse transcriptase, reverse transriptase pcr, ribonucleic acid, ribosomal RNA, ring chromosome, satellite, screening, segmental, segmental duplication, segregation, segregation analysis, selection, sensitivity, sequence, sex chromosome, short interspersed nuclear elements, sib, signal transduction, simple repeat, single nucleotide polymorphism, somatic, somatic cell hybrid, somatic mosaicism, somatic mutation, specie, specificity, Spectral Karyotyping, sperm, spina bifida, splice site, splicing, spontaneous abortion, sporadic, substitution, subtelomeric region, survival, switching, synapsis, syndrome, synthesis, tagging snp, tandem repeat, telomere, threshold, trait, trans-acting, transcript, transition, translation, translocation, trisomy, tumor suppressor gene, uniparental disomy, variable expressivity, variant, variation, vector, virus, x-chromosome, y-chromosome, yeast artificial chromosome

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