karyotyping

Summary

Summary: Mapping of the full chromosome set of the nucleus of a cell. The chromosome characteristics of an individual or a cell line are usually presented as a systematized array of metaphase chromosomes from a photomicrograph of a single cell nucleus arranged in pairs in descending order of size and according to the position of the centromere. (From Stedman, 25th ed)

Top Publications

  1. pmc Disease-specific induced pluripotent stem cells
    In Hyun Park
    Department of Medicine, Division of Pediatric Hematology Oncology, Children s Hospital Boston, and Dana Farber Cancer Institute, Boston, MA 02115, USA
    Cell 134:877-86. 2008
  2. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
  3. pmc Living at the edge: biogeographic patterns of habitat segregation conform to speciation by niche expansion in Anopheles gambiae
    Carlo Costantini
    Institut de recherche pour le developpement IRD, UR016, and Institut de Recherche en Sciences de la Santé IRSS, Bobo Dioulasso, Burkina Faso
    BMC Ecol 9:16. 2009
  4. pmc Comparative mapping of Brassica juncea and Arabidopsis thaliana using Intron Polymorphism (IP) markers: homoeologous relationships, diversification and evolution of the A, B and C Brassica genomes
    Priya Panjabi
    Centre for Genetic Manipulation of Crop Plants, University of Delhi South Campus, Benito Juarez Road, New Delhi 110021, India
    BMC Genomics 9:113. 2008
  5. pmc Ecological niche partitioning between Anopheles gambiae molecular forms in Cameroon: the ecological side of speciation
    Frederic Simard
    Laboratoire de Lutte contre les Insectes Nuisibles, Institut de Recherche pour le Developpement, UR016, 911 Av Agropolis, Cedex 5, Montpellier, France
    BMC Ecol 9:17. 2009
  6. pmc Aneuploidy and isochromosome formation in drug-resistant Candida albicans
    Anna Selmecki
    Department of Genetics, Cell Biology, and Development, University of Minnesota, 6 160 Jackson Hall, 321 Church Street SE, Minneapolis, MN 55455, USA
    Science 313:367-70. 2006
  7. ncbi Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations
    Christopher J Lengner
    Whitehead Institute for Biomedical Sciences, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 141:872-83. 2010
  8. ncbi Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice
    S E Artandi
    Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    Nature 406:641-5. 2000
  9. ncbi Identification of a cancer stem cell in human brain tumors
    Sheila K Singh
    The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Cancer Res 63:5821-8. 2003
  10. ncbi High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
    M Tyreman
    Medical Genetics Department, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    J Med Genet 46:531-41. 2009

Detail Information

Publications316 found, 100 shown here

  1. pmc Disease-specific induced pluripotent stem cells
    In Hyun Park
    Department of Medicine, Division of Pediatric Hematology Oncology, Children s Hospital Boston, and Dana Farber Cancer Institute, Boston, MA 02115, USA
    Cell 134:877-86. 2008
    ..Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development...
  2. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis.
  3. pmc Living at the edge: biogeographic patterns of habitat segregation conform to speciation by niche expansion in Anopheles gambiae
    Carlo Costantini
    Institut de recherche pour le developpement IRD, UR016, and Institut de Recherche en Sciences de la Santé IRSS, Bobo Dioulasso, Burkina Faso
    BMC Ecol 9:16. 2009
    ..To elucidate the role that ecology and geography play in speciation, we carried out a countrywide analysis of An. gambiae M and S habitat requirements, and that of their chromosomal variants, across Burkina Faso...
  4. pmc Comparative mapping of Brassica juncea and Arabidopsis thaliana using Intron Polymorphism (IP) markers: homoeologous relationships, diversification and evolution of the A, B and C Brassica genomes
    Priya Panjabi
    Centre for Genetic Manipulation of Crop Plants, University of Delhi South Campus, Benito Juarez Road, New Delhi 110021, India
    BMC Genomics 9:113. 2008
    ..thaliana and analyzed the arrangement of 24 (previously described) genomic block segments in the A, B and C Brassica genomes to study the evolutionary events contributing to karyotype variations in the three diploid Brassica genomes...
  5. pmc Ecological niche partitioning between Anopheles gambiae molecular forms in Cameroon: the ecological side of speciation
    Frederic Simard
    Laboratoire de Lutte contre les Insectes Nuisibles, Institut de Recherche pour le Developpement, UR016, 911 Av Agropolis, Cedex 5, Montpellier, France
    BMC Ecol 9:17. 2009
    ....
  6. pmc Aneuploidy and isochromosome formation in drug-resistant Candida albicans
    Anna Selmecki
    Department of Genetics, Cell Biology, and Development, University of Minnesota, 6 160 Jackson Hall, 321 Church Street SE, Minneapolis, MN 55455, USA
    Science 313:367-70. 2006
    ....
  7. ncbi Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations
    Christopher J Lengner
    Whitehead Institute for Biomedical Sciences, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 141:872-83. 2010
    ..These findings indicate that the human blastocyst contains pre-X-inactivation cells and that this state is preserved in vitro through culture under physiological oxygen...
  8. ncbi Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice
    S E Artandi
    Department of Adult Oncology, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    Nature 406:641-5. 2000
    ..Our data suggest a model in which telomere dysfunction brought about by continual epithelial renewal during life generates the massive ploidy changes associated with the development of epithelial cancers...
  9. ncbi Identification of a cancer stem cell in human brain tumors
    Sheila K Singh
    The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Cancer Res 63:5821-8. 2003
    ..The identification of a BTSC provides a powerful tool to investigate the tumorigenic process in the central nervous system and to develop therapies targeted to the BTSC...
  10. ncbi High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
    M Tyreman
    Medical Genetics Department, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    J Med Genet 46:531-41. 2009
    ..The diagnostic use of high resolution array genomic hybridisation analysis for prenatal testing remains to be systematically assessed...
  11. ncbi Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
    S C Hillman
    School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Ultrasound Obstet Gynecol 37:6-14. 2011
    ..The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping.
  12. ncbi A culture system using human foreskin fibroblasts as feeder cells allows production of human embryonic stem cells
    Outi Hovatta
    Department of Clinical Science, Karolinska Institutet, Huddinge University Hospital, S 141 86 Stockholm, Sweden
    Hum Reprod 18:1404-9. 2003
    ....
  13. pmc Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol
    D S Johnson
    Gene Security Network, Inc, 2686 Middlefield Road, Suite C, Redwood City, CA 94063, USA
    Hum Reprod 25:1066-75. 2010
    ..Preimplantation genetic screening (PGS) has been used in an attempt to determine embryonic aneuploidy. Techniques that use new molecular methods to determine the karyotype of an embryo are expanding the scope of PGS...
  14. ncbi Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells
    Jonathan S Draper
    Department of Biomedical Science, University of Sheffield, Western Bank, Sheffield S10 2TN, UK
    Nat Biotechnol 22:53-4. 2004
    ..These observations are instructive for the future application of hES cells in transplantation therapies in which the use of aneuploid cells could be detrimental...
  15. ncbi Efficient establishment of human embryonic stem cell lines and long-term maintenance with stable karyotype by enzymatic bulk passage
    Hirofumi Suemori
    Laboratory of Embryonic Stem Cell Research, Stem Cell Research Center, Institute for Frontier Medical Sciences, Kyoto University, 53 Kawahara cho Shogoin, Sakyo ku, Kyoto 606 8507, Japan
    Biochem Biophys Res Commun 345:926-32. 2006
    ..These results provide valuable information that will assist in achieving the goal of the large-scale hES cell culture required for the application of hES cells to disease therapy...
  16. ncbi Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461)
    John C Byrd
    Division of Hematology and Oncology, Comprehensive Cancer Center, The Ohio State University, Columbus 43210 1240, USA
    Blood 100:4325-36. 2002
    ....
  17. ncbi Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms
    Maria Ester Bernardo
    Oncoematologia Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Universita di Pavia, Pavia, Italy
    Cancer Res 67:9142-9. 2007
    ..of MSCs was investigated through array-comparative genomic hybridization (array-CGH), conventional karyotyping, and subtelomeric fluorescent in situ hybridization analysis both before and after prolonged culture...
  18. ncbi Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
    Idit Maya
    The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel
    Prenat Diagn 30:1131-7. 2010
    ..There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009...
  19. ncbi Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
    T Y Leung
    Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR
    Ultrasound Obstet Gynecol 38:314-9. 2011
    ..The aim of this study was to report the prevalence of submicroscopic chromosomal abnormalities in a cohort of apparently euploid fetuses that presented with increased NT...
  20. ncbi Chromosomal speciation and molecular divergence--accelerated evolution in rearranged chromosomes
    Arcadi Navarro
    Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Catalonia, Spain
    Science 300:321-4. 2003
    ..Also, nucleotide variability is slightly lower in rearranged chromosomes. These patterns of divergence and polymorphism may be, at least in part, the molecular footprint of speciation events in the human and chimpanzee lineages...
  21. ncbi Human feeder layers for human embryonic stem cells
    M Amit
    Department of Obstetrics and Gynecology, Rambam Medical Center, Rambam Medical Center, Haifa, Isreal
    Biol Reprod 68:2150-6. 2003
    ....
  22. pmc Reconstruction of the vertebrate ancestral genome reveals dynamic genome reorganization in early vertebrates
    Yoichiro Nakatani
    Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa 277 0882, Japan
    Genome Res 17:1254-65. 2007
    ....
  23. pmc The ploidy conveyor of mature hepatocytes as a source of genetic variation
    Andrew W Duncan
    Oregon Stem Cell Center, Papé Family Pediatric Research Institute, Oregon Health and Science University, Portland, Oregon 97239, USA
    Nature 467:707-10. 2010
    ..We propose that this mechanism evolved to generate genetic diversity and permits adaptation of hepatocytes to xenobiotic or nutritional injury...
  24. ncbi Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases
    Francesco Fiorentino
    GENOMA Molecular Genetics Laboratory, via Po, 102 00198, Rome, Italy
    Prenat Diagn 31:1270-82. 2011
    ....
  25. ncbi Molecular cytogenetic analysis of head and neck squamous cell carcinoma: By comparative genomic hybridization, spectral karyotyping, and expression array analysis
    Jeremy A Squire
    Department of Laboratory Medicine and Pathobiology, The University of Toronto and The University Health Network, Toronto, Ontario, Canada
    Head Neck 24:874-87. 2002
    ..Such combinatorial studies may help to identify recurrent patterns of altered gene expression in the context of specific chromosomal changes...
  26. pmc Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 29:29-39. 2009
    ..To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa...
  27. ncbi Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
    E Schrock
    Genome Technology Branch, National Institutes of Health, Bethesda, Maryland 20892 4470, USA
    Hum Genet 101:255-62. 1997
    ..We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-..
  28. ncbi Activin A maintains pluripotency of human embryonic stem cells in the absence of feeder layers
    Gillian M Beattie
    Department of Pediatrics, Whittier Institute, 9894 Genesee Ave, La Jolla, CA 92037, USA
    Stem Cells 23:489-95. 2005
    ..hESCs retained both normal karyotype and markers of undifferentiated cells, including Oct-4, nanog, and TRA-1-60 and remained pluripotent, as shown by the in vivo formation of teratomas...
  29. ncbi Preserving the genetic integrity of human embryonic stem cells
    Maisam M Mitalipova
    Nat Biotechnol 23:19-20. 2005
  30. ncbi Comparative evaluation of various human feeders for prolonged undifferentiated growth of human embryonic stem cells
    Mark Richards
    Department of Obstetrics and Gynecology, National University of Singapore, Kent Ridge, Singapore
    Stem Cells 21:546-56. 2003
    ..Also, differences in feeder support exist between human cell types and sources. The use of human adult skin feeders is convenient for hES cell support given the ease of obtaining skin biopsies...
  31. pmc Chromosomal phylogeny and karyotype evolution in x=7 crucifer species (Brassicaceae)
    Terezie Mandáková
    Department of Functional Genomics and Proteomics, Institute of Experimental Biology, Masaryk University, Brno CZ 625 00, Czech Republic
    Plant Cell 20:2559-70. 2008
    ..Comparative chromosome maps of two important model species, Noccaea caerulescens and Thellungiella halophila, and complete karyotypes of two purported autotetraploid Calepineae species (2n=4x=28) were reconstructed by CCP...
  32. pmc Long-term in vitro expansion alters the biology of adult mesenchymal stem cells
    Reza Izadpanah
    Division of Gene Therapy, Tulane National Primate Research Center, Tulane University Health Sciences Center, Covington, Louisiana 70433, USA
    Cancer Res 68:4229-38. 2008
    ..Functional analysis of genes that were differentially expressed in rASCs and hBMSCs revealed that pathways involved in cell cycle, cell cycle checkpoints, protein-ubiquitination, and apoptosis were altered...
  33. ncbi Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiologic parameters
    Gian Matteo Rigolin
    Section of Hematology, Azienda Ospedaliero Universitaria, Arcispedale S Anna, University of Ferrara, Italy
    Blood 119:2310-3. 2012
    ..In patients with chronic lymphocytic leukemia with normal FISH, karyotypic aberrations by conventional cytogenetics with novel mitogens identify a subset of cases with adverse prognostic features...
  34. ncbi Characterization of a leaf rust-resistant wheat-Thinopyrum ponticum partial amphiploid BE-1, using sequential multicolor GISH and FISH
    A Sepsi
    Agricultural Research Institute of the Hungarian Academy of Sciences, 2462, Martonvasar, Hungary
    Theor Appl Genet 116:825-34. 2008
    ..On the basis of their multicolor FISH patterns, the alien chromosomes could be arranged in eight pairs and could also be differentiated unequivocally from each other...
  35. ncbi Characterizing the composition and evolution of homoeologous genomes in hexaploid wheat through BAC-end sequencing on chromosome 3B
    Etienne Paux
    UMR ASP 1095, INRA, Universite Blaise Pascal, 63100 Clermont Ferrand, France
    Plant J 48:463-74. 2006
    ..Our data demonstrate that BAC-end sequencing from flow-sorted chromosomes is a powerful tool for analysing the structure and evolution of polyploid and highly repetitive genomes...
  36. ncbi Prognostically useful gene-expression profiles in acute myeloid leukemia
    Peter J M Valk
    Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 350:1617-28. 2004
    ..However, this combined approach provides correct therapeutic and prognostic information in only 50 percent of cases...
  37. ncbi Spectral karyotyping and fluorescence in situ hybridization of murine cells
    Cornelia Rudolph
    Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany
    Methods Mol Biol 506:453-66. 2009
    ..The molecular cytogenetic technique of spectral karyotyping (SKY) overcomes that difficulty by karyotyping metaphase chromosomes after different and simultaneous ..
  38. ncbi Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia
    A Tyybakinoja
    Leukemia 21:571-4. 2007
  39. ncbi Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
    Karen Buysse
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Eur J Med Genet 52:398-403. 2009
    Molecular karyotyping has moved from bench to bedside for the genetic screening of patients with mental retardation and/or congenital anomalies...
  40. pmc IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study
    Guido Marcucci
    Division of Hematology and Oncology, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    J Clin Oncol 28:2348-55. 2010
    ....
  41. ncbi Presence of a ROCK inhibitor in extracellular matrix supports more undifferentiated growth of feeder-free human embryonic and induced pluripotent stem cells upon passaging
    Mohammad Pakzad
    Department of Stem Cells and Developmental Biology, Royan Institute for Stem Cell Biology and Technology, ACECR, P O Box 19395 4644, Tehran, Iran
    Stem Cell Rev 6:96-107. 2010
    ..This is due not only to an anti-apoptotic effect, but also to an increase in the ECM-cells interaction. Therefore, we believe this method will be useful for both current and future applications of these pluripotent stem cells...
  42. pmc Changes in karyotype and azole susceptibility of sequential bloodstream isolates from patients with Candida glabrata candidemia
    Jong Hee Shin
    Department of Laboratory Medicine, Chonnam National University Medical School, 8 Hakdong Dongku, Gwangju 501 757, South Korea
    J Clin Microbiol 45:2385-91. 2007
    ..PFGE typing consisted of electrophoretic karyotyping and restriction endonuclease analysis of genomic DNA by use of NotI (REAG-N)...
  43. ncbi Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    Justine Coppinger
    Signature Genomic Laboratories, Spokane, WA, USA
    Prenat Diagn 29:1156-66. 2009
    ..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing...
  44. ncbi Sex chromosomes and sex determination in Lepidoptera
    W Traut
    Universitat Lubeck, Zentrum fur Medizinische Strukturbiologie, Institut fur Biologie, Lubeck, Germany
    Sex Dev 1:332-46. 2007
    ..Special strains have been devised for mass rearing of male-only broods in the silkworm for higher silk production and in pest species for the release of sterile males in pest management programs...
  45. pmc Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
    Diane Van Opstal
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Hum Genet 17:112-21. 2009
    ..study using MLPA on 4000 amniotic fluid (AF) samples including all indications and compared its value to karyotyping and fluorescence in situ hybridization (FISH)...
  46. ncbi Virtual karyotyping of pluripotent stem cells on the basis of their global gene expression profiles
    Uri Ben-David
    Department of Genetics, Stem Cell Unit, Silberman Institute of Life Sciences, The Hebrew University, Jerusalem, Israel
    Nat Protoc 8:989-97. 2013
    ..This expression-based karyotyping (e-karyotyping) protocol uses gene expression microarray data (either originally generated or derived from the ..
  47. pmc Brain tumor stem cells maintain overall phenotype and tumorigenicity after in vitro culturing in serum-free conditions
    Einar Osland Vik-Mo
    Institute for Surgical Research, Norwegian National Hospital, Oslo, Norway
    Neuro Oncol 12:1220-30. 2010
    ..The cell lines adapted to conditions and had 2.2 times increased population doubling rate at later passages. Karyotyping and comparative genomic hybridization analysis revealed that all examined cell lines had cytogenetic ..
  48. ncbi Evidence of hexaploid karyotype in shortnose sturgeon
    Francesco Fontana
    Dipartimento di Biologia ed Evoluzione, Universita di Ferrara, Via L Borsari, 46, 44100 Ferrara, Italy
    Genome 51:113-9. 2008
    ..brevirostrum is a hexaploid species, probably of hybrid origin. Based on these results, we propose a model explaining speciation events occurring in sturgeons by hybridization, genome duplication, and diploidization...
  49. pmc An improved technique for chromosomal analysis of human ES and iPS cells
    Daniela Moralli
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN, Oxford, UK
    Stem Cell Rev 7:471-7. 2011
    ....
  50. pmc Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing
    Shan Dan
    Department of Perinatal Medicine, Beijing Obstetrics and Gynecology Hospital Capital Medical University, Beijing, China
    PLoS ONE 7:e27835. 2012
    Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing. Currently, G-band karyotyping and several molecular genetic methods have been established for diagnosis of chromosomal abnormalities...
  51. pmc Spectral karyotyping suggests additional subsets of colorectal cancers characterized by pattern of chromosome rearrangement
    W M Abdel-Rahman
    Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, United Kingdom
    Proc Natl Acad Sci U S A 98:2538-43. 2001
    ..Spectral karyotyping (SKY) showed that translocations were very varied and mostly unbalanced, with no translocation occurring in ..
  52. pmc Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies
    Ramon V Tiu
    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute Center, Cleveland, OH, USA
    Blood 117:4552-60. 2011
    ..Combined MC/SNP-A karyotyping lead to higher diagnostic yield of chromosomal defects (74% vs 44%, P < ...
  53. pmc Fast diploidization in close mesopolyploid relatives of Arabidopsis
    Terezie Mandáková
    Department of Functional Genomics and Proteomics, Institute of Experimental Biology, Masaryk University, Kamenice 5, CZ 625 00 Brno, Czech Republic
    Plant Cell 22:2277-90. 2010
    ..Our results underline the significance of multiple rounds of WGD in the angiosperm genome evolution and demonstrate that chromosome number per se is not a reliable indicator of ploidy level...
  54. ncbi Adverse prognostic impact of abnormal lesions detected by genome-wide single nucleotide polymorphism array-based karyotyping analysis in acute myeloid leukemia with normal karyotype
    Jun Ho Yi
    Sungkyunkwan University School of Medicine, Gangnam Gu, Seoul, Korea
    J Clin Oncol 29:4702-8. 2011
    ....
  55. ncbi Current status and the future of fluorescence in situ hybridization (FISH) in plant genome research
    Jiming Jiang
    Department of Horticulture, University of Wisconsin, Madison, WI 53706, USA
    Genome 49:1057-68. 2006
    ..Repetitive DNA sequence can generate unique FISH patterns on individual chromosomes for karyotyping and phylogenetic analysis...
  56. pmc Microarray karyotyping of commercial wine yeast strains reveals shared, as well as unique, genomic signatures
    Barbara Dunn
    Dept of Genetics, Stanford University Medical Ctr, Stanford, CA 94305 5120, USA
    BMC Genomics 6:53. 2005
    ..To investigate this, we have determined genomic differences among several Saccharomyces cerevisiae wine strains by using a "microarray karyotyping" (also known as "array-CGH" or "aCGH") technique.
  57. ncbi SuperTAG methylation-specific digital karyotyping reveals uremia-induced epigenetic dysregulation of atherosclerosis-related genes
    Adam M Zawada
    Department of Internal Medicine IV, Saarland University Medical Center, Homburg, Germany
    Circ Cardiovasc Genet 5:611-20. 2012
    ..We hypothesized that gene-specific epigenetic dysregulation in CKD exists, affecting genes pertinent to inflammation and atherosclerosis...
  58. ncbi Frequency and distribution of chromosome abnormalities in human spermatozoa
    C Templado
    Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autonoma de Barcelona, Bellaterra, Spain
    Cytogenet Genome Res 111:199-205. 2005
    ..Results from large sperm karyotyping series analyzed by chromosome banding techniques and results from multicolor FISH in sperm nuclei (of at least ..
  59. ncbi Growth of human embryonic stem cells using derivates of human fibroblasts
    Carmen Escobedo-Lucea
    Centro de Investigacion Principe Felipe, Valencia, Spain
    Methods Mol Biol 584:55-69. 2010
    ..This growth system reduces exposure of hESC to feeder layers and animal ingredients, thereby limiting the risk of pathogenic contamination and additionally facilitating manipulation of hESCs...
  60. pmc 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies
    Andrew J Dunbar
    Department of Hematologic Oncology and Blood Disorders, Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Cancer Res 68:10349-57. 2008
    ..Acquired mutations of c-Cbl E3 ubiquitin ligase may explain the pathogenesis of a clonal process in a subset of MDS/MPD, including CMML...
  61. pmc Organization and variation analysis of 5S rDNA in different ploidy-level hybrids of red crucian carp × topmouth culter
    Weiguo He
    Key Laboratory of Protein Chemistry and Fish Developmental Biology of Education Ministry of China, College of Life Sciences, Hunan Normal University, Changsha, People s Republic of China
    PLoS ONE 7:e38976. 2012
    ....
  62. ncbi Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma
    Mireille Van Gele
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Int J Cancer 101:137-45. 2002
    ..In order to study genomic aberrations occurring in MCC in further detail, we combined karyotyping, CGH and multiplex-fluorescence in situ hybridization (M-FISH), a strategy that proved to be successful in the ..
  63. ncbi Chromosome evolution in the Salmonidae (Pisces): an update
    R Phillips
    Department of Biological Sciences, University of Wisconsin-Milwaukee, 53201, USA
    Biol Rev Camb Philos Soc 76:1-25. 2001
    ..Selection for increases or decreases in genetic recombination as proposed by Qumsiyeh, 1994 could have been involved in the evolution of chromosome number in salmonid fishes...
  64. pmc The B chromosomes of the African cichlid fish Haplochromis obliquidens harbour 18S rRNA gene copies
    Andréia B Poletto
    UNESP Universidade Estadual Paulista, Instituto de Biociencias, Departamento de Morfologia, Botucatu, SP, Brazil
    BMC Genet 11:1. 2010
    ..Despite being widely distributed among different taxa, the genomic nature and genetic behavior of B chromosomes are still poorly understood...
  65. ncbi Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
    Linda Kleeman
    Division of Maternal Fetal Medicine, Tufts Medical Center, Boston, MA, USA
    Prenat Diagn 29:1213-7. 2009
    ..To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies...
  66. pmc The homeobox gene CDX2 is aberrantly expressed in most cases of acute myeloid leukemia and promotes leukemogenesis
    Claudia Scholl
    Division of Hematology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 117:1037-48. 2007
    ....
  67. ncbi Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells
    Angelique J A Kooper
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 28:1004-10. 2008
    ..e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice...
  68. ncbi Oocyte karyotyping by comparative genomic hybridization [correction of hybrydization] provides a highly reliable method for selecting "competent" embryos, markedly improving in vitro fertilization outcome: a multiphase study
    Geoffrey Sher
    Sher Institute for Reproductive Medicine, Las Vegas, Nevada 89109, USA
    Fertil Steril 87:1033-40. 2007
    ....
  69. ncbi Long-term culture of human embryonic stem cells in feeder-free conditions
    Elen S Rosler
    Geron Corporation, Menlo Park, California, USA
    Dev Dyn 229:259-74. 2004
    ....
  70. pmc Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis
    T Pabst
    Department of Medical Oncology and Clinical Research, University Hospital Bern and University Bern, Bern, Switzerland
    Br J Cancer 100:1343-6. 2009
    ..In a multivariable analysis, only double -- but not single -- CEBPA mutations were identified as independent prognostic factors. These findings indicate heterogeneity within AML patients with CEBPA mutations...
  71. pmc Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review
    M Akgul
    Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
    J Assist Reprod Genet 26:119-22. 2009
    ..In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir...
  72. ncbi Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities
    G M Grimshaw
    Centre for Health Services Studies, University of Warwick, Coventry, UK
    Health Technol Assess 7:1-146. 2003
  73. ncbi Distribution of (TTAGGG)n telomeric sequences in karyotypes of the Xenopus species complex
    I Nanda
    Department of Human Genetics, University of Wurzburg, Wurzburg, Germany
    Cytogenet Genome Res 122:396-400. 2008
    ..clivii do not necessarily represent the relic of ancestral telomeres resulting from the fusion of chromosomes, but their occurrence is due to the fact that (TTAGGG)(n) repeat arrays may be a constituent of highly repetitive DNA...
  74. ncbi Platelet lysate consisting of a natural repair proteome supports human mesenchymal stem cell proliferation and chromosomal stability
    Ruben Crespo-Diaz
    Division of Cardiovascular Diseases, Departments of Medicine and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA
    Cell Transplant 20:797-811. 2011
    ..Thus, GMP-adherent human platelet lysate accelerates hMSC proliferation with no chromosomal aberrancy, through an innate repair paradigm...
  75. ncbi Biology of stem cells in human umbilical cord stroma: in situ and in vitro surveys
    Sercin Karahuseyinoglu
    Department of Histology and Embryology, Ankara University School of Medicine, Sihhiye, 06100 Ankara, Turkey
    Stem Cells 25:319-31. 2007
    ..Given these characteristics, they may be generally considered progenitor cells if manipulated under appropriate conditions and deserve further study to be potentially used in cell-based therapies...
  76. ncbi Extension of life-span by introduction of telomerase into normal human cells
    A G Bodnar
    Geron Corporation, Menlo Park, CA 94025, USA
    Science 279:349-52. 1998
    ..The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine...
  77. ncbi High-resolution mapping of interstitial telomeric repeats in Syrian hamster metaphase chromosomes
    S Demin
    Institute of Cytology, Russian Academy of Sciences, St Petersburg, Russia
    Cytogenet Genome Res 132:151-5. 2011
    ..High-resolution DAPI-banding allowed specifying the arrangement of bands in the pericentromeric regions of these chromosomes...
  78. ncbi CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH)
    Yun Shien Lee
    Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Tao Yuan, Taiwan
    J Biomed Sci 15:687-96. 2008
    ..The program can be freely downloaded from http://www.mcu.edu.tw/department/biotec/en%5Fpage/CGcgh/ ...
  79. pmc Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays
    Jill M Hagenkord
    Molecular Pathology and Clinical Genomics, Creighton University Medical Center, Department of Pathology, 601 N 30 Street, Suite 2400, Omaha, NE 68131 2197, USA
    J Mol Diagn 12:184-96. 2010
    ..Array-based karyotyping is gaining acceptance as an alternative to the standard fluorescence in situ hybridization (FISH) panel for ..
  80. pmc Chromosome painting using repetitive DNA sequences as probes for somatic chromosome identification in maize
    Akio Kato
    Division of Biological Sciences, Tucker Hall, University of Missouri, Columbia, MO 65211 7400
    Proc Natl Acad Sci U S A 101:13554-9. 2004
    ..The same probe mixture identifies meiotic pachytene, late prophase I, and metaphase I chromosomes. The procedure could facilitate the study of chromosomal structure and behavior and be adapted for other plant species...
  81. pmc Checkpoint-apoptosis uncoupling in human and mouse embryonic stem cells: a source of karyotpic instability
    Charlie Mantel
    Department of Microbiology and Immunology and the Walther Oncology Center, Indiana University School of Medicine, and the Walther Cancer Institute, Indianapolis, IN 46202, USA
    Blood 109:4518-27. 2007
    ..This natural behavior of ESCs to tolerate/survive varying degrees of ploidy change could complicate genome-reprogramming studies and stem-cell plasticity studies, but could also reveal clues about the mechanisms of CIN in human tumors...
  82. pmc Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
    M A Aldred
    J Med Genet 41:433-9. 2004
  83. pmc Are ribosomal DNA clusters rearrangement hotspots?: a case study in the genus Mus (Rodentia, Muridae)
    Benoîte Cazaux
    Institut des Sciences de l Evolution, UMR5554 CNRS Université Montpellier II, France
    BMC Evol Biol 11:124. 2011
    ..The target model was the genus Mus which exhibits a high rate of karyotypic change, a large fraction of which involves centromeres...
  84. ncbi Reconstitution of telomerase activity combined with HPV-E7 expression allow human preadipocytes to preserve their differentiation capacity after immortalization
    C Darimont
    Nestle Research Center, PO Box 44, Vers chez les Blanc, 1000 Lausanne 26, Switzerland
    Cell Death Differ 10:1025-31. 2003
    ..These data demonstrate, for the first time, that coexpression of hTERT and HPV-E7 in human preadipocytes allows cells not only to display an indefinite life span but also to retain their capacity to differentiate...
  85. pmc Two factor reprogramming of human neural stem cells into pluripotency
    Mark E Hester
    The Research Institute at Nationwide Children s Research Institute, Columbus, Ohio, USA
    PLoS ONE 4:e7044. 2009
    ....
  86. ncbi Improved fish lymphocyte culture for chromosome preparation
    A Fujiwara
    Department of Aquatic Biosciences, Tokyo University of Fisheries, Japan
    Genetica 111:77-89. 2001
    ..Chromosome preparations of improved quality by the present method were successfully applied for the replication R-banding with incorporation of 5-bromo-2'-deoxyuridine and direct R-banding fluorescence in situ hybridization...
  87. ncbi Human adult marrow cells support prolonged expansion of human embryonic stem cells in culture
    Linzhao Cheng
    The Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
    Stem Cells 21:131-42. 2003
    ..In addition, this system may help to identify cytokines and adhesion molecules that are required for the self-renewal of hES cells...
  88. pmc Chromosomal breakage-fusion-bridge events cause genetic intratumor heterogeneity
    D Gisselsson
    Department of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden
    Proc Natl Acad Sci U S A 97:5357-62. 2000
    ....
  89. pmc A fluorescence in situ hybridization system for karyotyping soybean
    Seth D Findley
    Division of Plant Sciences, National Center for Soybean Biotechnology, University of Missouri, Columbia, Missouri 65211, USA
    Genetics 185:727-44. 2010
    ..anchored BAC clones both to identify individual chromosomes in metaphase spreads and to complete a FISH-based karyotyping cocktail that permitted simultaneous identification of all 20 chromosome pairs...
  90. ncbi Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q
    M Mallo
    Spanish Haematological Cytogenetics Working Group, Faculty of Life Sciences, Department of Cell Biology, Physiology, and Immunology, Autonomous University of Barcelona, Bellaterra, Spain
    Leukemia 25:110-20. 2011
    ....
  91. ncbi Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?
    M Staebler
    Department of Medical Imaging, Children s University Hospital Queen Fabiola, Universite Libre de Bruxelles, Belgium
    Prenat Diagn 25:567-73. 2005
    The aim of this study was to determine whether karyotyping should be performed for every fetal malformation detected in low risk populations.
  92. pmc High resolution genome-wide analysis of chromosomal alterations in Burkitt's lymphoma
    Saloua Toujani
    CNRS, FRE2939, Génomique Cellulaire des Cancers, Institut Gustave Roussy IGR, Villejuif, France
    PLoS ONE 4:e7089. 2009
    ..Further investigations which combined gene expression and functional studies are essential to understand the lymphomagenesis mechanism and for the development of more effective, targeted therapeutic strategies...
  93. pmc Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution
    Lucia Carbone
    Children s Hospital and Research Center Oakland, Oakland, California, United States of America
    PLoS Genet 5:e1000538. 2009
    ..The association between undermethylation and chromosomal rearrangement in gibbons suggests a correlation between epigenetic state and structural genome variation in evolution...
  94. ncbi Immortalization of human small airway epithelial cells by ectopic expression of telomerase
    Chang Q Piao
    Center for Radiological Research, College of Physicians and Surgens, Mailman School of Public Health, Columbia University, New York, NY 10032, USA
    Carcinogenesis 26:725-31. 2005
    ....
  95. ncbi Evolutionary dynamics of rDNA clusters on chromosomes of moths and butterflies (Lepidoptera)
    Petr Nguyen
    Faculty of Science, University of South Bohemia, Ceske Budejovice, Czech
    Genetica 138:343-354. 2010
    ..e., homologous recombination between repetitive sequences of non-homologous chromosomes, as a primary motive force in rDNA repatterning...
  96. ncbi Accelerated and safe expansion of human mesenchymal stromal cells in animal serum-free medium for transplantation and regenerative medicine
    Claudia Lange
    Clinic for Stem Cell Transplantation, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Cell Physiol 213:18-26. 2007
    ..In summary, we have established a GMP-compatible protocol for safe and accelerated expansion of hMSC to be used in cell and tissue therapy...
  97. ncbi Chromosomal speciation revisited: rearranging theory with pieces of evidence
    Rui Faria
    Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
    Trends Ecol Evol 25:660-9. 2010
    ..Finally, we question some previous predictions and suggest new empirical and theoretical approaches to understanding the relevance of rearrangements in the origin of species...
  98. ncbi A proteome analysis of conditioned media from human neonatal fibroblasts used in the maintenance of human embryonic stem cells
    Andrew B J Prowse
    Bioengineering Centre, The University of New South Wales, Sydney, Australia
    Proteomics 5:978-89. 2005
    ....
  99. ncbi Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cells
    Amy H Yang
    Biomedical Sciences, School of Medicine, University of California, San Diego, California 92093, USA
    J Neurosci 23:10454-62. 2003
    ..These data independently confirm the presence of aneuploid NPCs and demonstrate the occurrence of mitotic segregation defects in normal cells that can mechanistically account for aneuploidy in the CNS...
  100. ncbi Allopolyploidy alters gene expression in the highly stable hexaploid wheat
    Ping He
    Department of Plant Pathology, Kansas State University, Manhattan, KS 66506, USA
    Plant Mol Biol 52:401-14. 2003
    ..These genes were often altered non-randomly in different synthetic hexaploids as well as natural hexaploid wheat, suggesting that many of the gene expression changes were intrinsically associated with polyploidy...
  101. pmc Generation of human induced pluripotent stem cells from umbilical cord matrix and amniotic membrane mesenchymal cells
    Jinglei Cai
    Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Chinese Academy of Sciences, Guangzhou 510530, China
    J Biol Chem 285:11227-34. 2010
    ....

Research Grants62

  1. Optimization of DNA Repair by Abh8
    Lauren Endres; Fiscal Year: 2013
    ..I propose to isolate these colonies and assay them for chromosomal abnormalities using spectral karyotyping. Additionally, to investigate a potential cancer predisposition phenotype, Abh8-/- mice will be monitored for ..
  2. Hematopoietic Stem Cells (HSCs) as Juvenile Protective Factors that Alter Aging
    David E Harrison; Fiscal Year: 2011
    ..Genomic instability will be quantified as a) chromosome structural lesions (spectral karyotyping), b) segmental copy number aberrations (array comparative genomic hybridization), and c) DNA double strand ..
  3. RADIATION-INDUCED THYROID CANCER
    Heinz Ulrich G Weier; Fiscal Year: 2011
    ..tumors (9 chPTC cases and 1 adult case) for which we have cell lines as well as G-banding and Spectral Karyotyping results...
  4. Molecular Pathogenesis of MDS and CMML
    Jaroslaw P Maciejewski; Fiscal Year: 2013
    ..Single nucleotide polymorphism arrays (SNP-A) are a new method for high resolution karyotyping and detection of unbalanced DNA defects including somatic uniparental disomy (UPD)...
  5. Training/Research Center-Bone Marrow Failure Syndromes
    Jaroslaw P Maciejewski; Fiscal Year: 2013
    ..lesions in bone marrow failure using single nucleotide polymorphism arrays (SNP-A) which as a high resolution karyotyping method allows for the detection of unbalanced DNA defects, including somatic uniparental disomy (UPD) and ..
  6. iPS-derived hepatocytes as a model of familial hypercholesterolemia
    Max A Cayo; Fiscal Year: 2013
    ..the resulting iPSC by immunostaining/fluorescence microscopy, flow cytometry, DNA fingerprint STR analysis, karyotyping, and teratoma assay...
  7. Advanced Immunocytochemistry, In Situ Hybridization and Live Cell Imaging Course
    TERRI I GRODZICKER; Fiscal Year: 2013
    ..to characterize copy number changes of oncogenes and tumor suppressor genes on the DNA-level using spectral karyotyping and comparative genomic hybridization (CGH), and to analyze the cellular distribution and the expression status ..
  8. Comparative Analysis of DNA Break Repair in Short- and Long-Lived Rodent Species
    Vera Gorbunova; Fiscal Year: 2012
    ..We will examine aneuploidy rate by flow cytometry and analyze specific chromosomal aberrations by karyotyping. (2) Test the hypothesis that the efficiency and fidelity of DSB repair co evolve with lifespan...
  9. Chemical Genomic Approaches to Neurobiology of DISC1
    Li Huei Tsai; Fiscal Year: 2013
    ..b>Karyotyping has been done on five generations of this family and 18 of the 29 members with this translocation have ..
  10. Functional and Clinical Analysis of Rak in Breast Cancer Suppression
    Shiaw Yih Lin; Fiscal Year: 2011
    ..these studies, we will assess genomic instability by using comparative genomic hybridization (CGH) and spectral karyotyping (SKY) to visualize chromosomal aberrations;we will study how Rak may participate directly in transmitting DNA ..
  11. Diversity and Dynamic Stability of the Ocular Surface Microbiome
    Russell N Van Gelder; Fiscal Year: 2013
    ..The second technique, Biome Representational in Silico Karyotyping, is a novel method for discovery of previously uncharacterized species, utilizing Illumina-based deep ..
  12. Multimodal Qdot Probes for Bioimaging of Cells and Tumors in Small Animals
    Shimon Weiss; Fiscal Year: 2010
    ..We will develop panels of qdot probes useful for karyotyping cancerous cells and for gene expression profiling towards a combination of genes that would be diagnostic or ..
  13. 15th International Society for Prenatal Diagnosis Meeting
    Diana W Bianchi; Fiscal Year: 2010
    ..human fetuses, whether industry sponsorship accelerates or hinders the pace of research, whether conventional karyotyping is necessary in the post-array-CGH era, and whether ultrasound is better for Down syndrome screening than cell-..
  14. Cancer Genome Characterization Center at Johns Hopkins
    Stephen Baylin; Fiscal Year: 2009
    ..Our side-by- side comparison of the current 300,000 SNP BeadChip to Digital Karyotyping shows that it provides higher resolution at a dramatically lower cost...
  15. Non-invasive Aneuploidy Screening of Circulating Fetal Cells for Prenatal Diagnos
    Matthew Rabinowitz; Fiscal Year: 2012
    ..core competencies of GSN as we have previously successfully commercialized an innovative single cell molecular karyotyping protocol to enable genetic analysis of single blastomeres within 24 hours...
  16. Derivation and Transplantation of Histocompatible Pluripotent Stem Cells
    David W Russell; Fiscal Year: 2010
    ..The parental iPSCs and their HLA-homozygous derivatives will be characterized extensively by SNP-chip analysis, karyotyping, and differentiation potential...
  17. Large-scale Genetic Analyses of Human Cancer
    Victor E Velculescu; Fiscal Year: 2013
    ..analyses of copy number alterations using a modification of an approach we have previously termed Digital Karyotyping. These analyses will be integrated with the sequence alterations of the protein coding genes we have already ..
  18. Epithelial-stromal cell interactions in breast cancer
    Kornelia Polyak; Fiscal Year: 2010
    ..tumorigenesis, we developed a novel genome-wide methylation profiling method, methylation specific digital karyotyping (MSDK)...
  19. The effect of the microbiome on the development and severity of uveitis
    Phoebe Lin; Fiscal Year: 2013
    ..microbiome of complex biological environments, such as the gut, will be used (Biome representational in silico karyotyping or BRISK)...
  20. Basic and Translational Research iPSC-based hematologic and vascular therapies
    John P Cooke; Fiscal Year: 2013
    ..Comprehensive characterization of the safety and efficacy of these cells will include spectral karyotyping, mitochondrial gene expression and function, and epigenetic, transcriptional and tumorigenic profiling...
  21. Innovative Molecular Platform for Prenatal Diagnostics
    David Scott Johnson; Fiscal Year: 2011
    ..The probe pool could also be used generically for any routine molecular karyotyping application, such as cancer diagnostics or preimplantation genetic diagnosis...
  22. PRENATAL CYTOGENETIC DIAGNOSIS BY ARRAY-BASED COPY NUMBER ANALYSES: Follow-up
    Ronald Wapner; Fiscal Year: 2013
    ..We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests...
  23. Streamlined Banking of Human Pluripotent Stem Cells Through Molecular Authenticat
    Jonathan M Auerbach; Fiscal Year: 2010
    ..the results with those obtained by traditional tests being used now - including immunophenotyping and G-band karyotyping. Once accomplished, we will have taken a large step forward toward realizing the full potential of these stem ..
  24. Characterization of a novel invasion-related gene in Glioblastoma
    David C Adamson; Fiscal Year: 2013
    ..Recently, using a state-of-the-art technologies, e.g. digital karyotyping, we mapped the genomic landscape of primary GBM tumors at a high resolution and identified the isolated loss of ..
  25. Non-steroidal anti-inflammatory use and miscarriage
    Katherine E Hartmann; Fiscal Year: 2010
    ..Birth outcomes will be documented for all pregnancies and karyotyping will be done on all losses where a tissue specimen is available...
  26. Discovery and analysis of structural variation in whole genome sequences
    Ryan E Mills; Fiscal Year: 2013
    ..as well as clinical applications which require a great del of accuracy and have thus far been limited to older karyotyping and microarray approaches...
  27. Immortalization of Pregnant Human Myometrial Cells
    MELVYN SOLOFF; Fiscal Year: 2004
    ..b>Karyotyping will also be performed to ensure the lack of chromosomal alterations in immortalized cells...
  28. IMPROVED CLASSIFIERS FOR AUTOMATED MULTIPLEX FISH
    Kenneth Castleman; Fiscal Year: 2001
    DESCRIPTION (Abstract, from the application): Automated karyotyping is an important procedure in cytogenetics labs worldwide...
  29. T CRUZI GENOME: UU
    Bjorn Andersson; Fiscal Year: 2004
    ..These projects have included initial karyotyping, mapping of several chromosomes, EST sequencing and sequencing of chromosome 3...
  30. SHARED FLOW CYTOMETRY FACILITY (FACSTAR PLUS)
    ROSS BASCH; Fiscal Year: 1991
    ..Chromosomal sorting and flow karyotyping are also within the capabilities of this instrument Intracellular Calcium, pH and membrane viscosity ..
  31. COMPARATIVE GENOMICS TO CORRECT HUMAN LUNG HYPOPLASIA
    Patricia Donahoe; Fiscal Year: 2005
    ..In Project IV, Drs. Holmes and Donahoe will create a database, perform karyotyping, and establish and immortalize cell lines on all CDH patients and their families since 1970...
  32. LUNG CANCER MODEL FOR SURGICAL RESEARCH
    JOHN BENFIELD; Fiscal Year: 1992
    ..b>Karyotyping tumors for humans and dogs will assess specific chromosomal abnormalities associated with the NSCLC polyploidy ..
  33. Aging & Genomic Changes: Role of Environment/Genetics
    Colleen Jackson Cook; Fiscal Year: 2009
    ..be identified for each of the 24 human chromosomes using a novel assay we developed which combines spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and micronuclei technologies...
  34. Improved Classifiers for Multiplex FISH
    Kenneth Castleman; Fiscal Year: 2004
    Automated karyotyping is an important procedure in cytogenetics labs worldwide...
  35. Functional studies on normal neural aneuploidy
    Jerold Chun; Fiscal Year: 2007
    ..Spectral Karyotyping (SKY) and single-locus fluorescence in situ hybridization (FISH) will allow assessment of total ploidy within ..
  36. REPETITIVE SEQUENCE-DEPLETE LIBRARIES OF DNA PROBES
    Xin Yuan Guan; Fiscal Year: 2000
    ..arm painting probes and chromosome band-specific painting probes in single and multi-color FISH, spectrum karyotyping and interphase FISH has greatly facilitated chromosome abnormality studies in both cancer and hereditary ..
  37. IMMUNOPATHOLOGY X-LINKED LYMPHOPROLIFERATIVE SYNDROME
    DAVID PURTILO; Fiscal Year: 1980
    ..b>Karyotyping of lymphoblastoid cell lines of patients will determine whether chromosomal breakage and marker chromosomes ..
  38. AUTOMATED KARYOTYPING SYSTEM
    David Patterson; Fiscal Year: 1990
    ..of the Eleanor Roosevelt Institute for Cancer Research request funding for a Genevision 121 Automated Karyotyping System and necessary microscopic equipment to establish an integrated computerized cytogenetic facility...
  39. DNA Polymerase in Genome Maintenance and Tumorigenesis
    Richard Wood; Fiscal Year: 2006
    ..the cell cycle, sensitivity to a range of DNA damaging agents, gross chromosomal arrangements by spectral karyotyping, and frequency of sister chromatid exchange...
  40. Accurate detection of chromosomal abnormalities with multi-color image processing
    Yu Ping Wang; Fiscal Year: 2009
    ..limited to research use and only serves as an adjunct tool to the G-banding based monochromatic chromosomal karyotyping in a clinical laboratory...
  41. BIOMEDICAL RESEARCH SUPPORT GRANT
    ADRIANNE ROGERS; Fiscal Year: 1991
    ..of the Eleanor Roosevelt Institute for Cancer Research request funding for a Genevision 121 Automated Karyotyping System and necessary microscopic equipment to establish an integrated computerized cytogenetic facility...
  42. MOLECULAR CYTOGENETICS OF MULTIPLE MYELOMA
    Raju Chaganti; Fiscal Year: 2001
    ..In these studies, we propose to combine the two novel molecular cytogenetic techniques, spectral karyotyping (SKY) and comparative genomic hybridization (CGH), with those of cloning and characterization of genes ..
  43. The role of SEPT9_v1 in mammary tumorigenesis
    ESTHER PETERSON; Fiscal Year: 2009
    ..Cytogenetics analyses, including Spectral Karyotyping, will be performed to look for specific chromosomes or structural aberrations that may contribute to malignant ..
  44. Chromosomal anomalies in macaque monkey oocytes
    Carol Brenner; Fiscal Year: 2006
    ..be matured in vitro, then (i) analyzed by fluorescent in situ hybridization with human chromosome probes or by karyotyping, and (ii) fertilized in vitro to make cleavage stage embryos that will be similarly analyzed for mosaicism We ..
  45. NEW APPROACHES TO FLOW SORTING OF CHROMOSOMES
    Howard Shapiro; Fiscal Year: 1991
    ..acid fluorochromes not previously applied to chromosome analysis and potentially usable in a large number of existing flow sorters will be examined as adjuncts or alternatives to stains presently used for bivariate flow karyotyping.
  46. Advanced Immunocytochemistry, In Situ Hybridization
    TERRI GRODZICKER; Fiscal Year: 2004
    ..mRNAs and proteins, by immunocytochemistry and fluorescence in situ hybridization (FISH), performing spectral karyotyping of human chromosomes, comparing the genomes of normal versus tumor samples by comparative genomic hybridization ..
  47. Mechanisms of Neoplastic Transformation by HMG-I/Y
    Linda Resar; Fiscal Year: 2006
    ..B.) Investigate the role of HMGI/ Y in genomic instability and identify the relevant domains using spectral karyotyping analysis. C...
  48. A Model System for Human Prostate Tumorigenesis
    Jill Macoska; Fiscal Year: 2003
    ..Characterize each cell line genotypically and phenotypically to identify alterations at the DNA by spectral karyotyping and at the RNA level by cDNA array analysis to: a) identify genetic alterations consistent with those observed ..
  49. ISOLATION/ANALYSIS OF BREAST CANCER SUSCEPTIBLITY GENES
    Barbara Weber; Fiscal Year: 1999
    ..One affected family member will also undergo karyotyping in an attempt to identify balanced translocations or other visible chromosomal abnormalities which may involve ..
  50. MOLECULAR CLASSIFICATION OF B-CELL LYMPHOMA
    Wing Chan; Fiscal Year: 2004
    ..Comparative genomic hybridization (CGH) and spectral karyotyping (SKY) are highly complementary novel techniques that examine the entire genome for genetic abnormalities and ..
  51. FUSION PROTEINS IN THE MOLECULAR PATHOGENESIS OF APL
    Pier Paolo Pandolfi; Fiscal Year: 2009
    ..Retroviral insertional mutagenesis in XRARalpha/ RARalpha-X TM, Spectral Karyotyping (SKY) and ChIP chip technology will be utilized to identify additional genetic events and target genes in APL ..
  52. BIOMEDICAL RESEARCH SUPPORT
    Elizabeth Hammond; Fiscal Year: 1990
    ..application of chromosome specific probe sets to the detection of chromosome abnormalities associate with malignant diseases, and the development of a novel method of chromosome karyotyping based on fluorescence in situ hybridization.
  53. Spectral imaging and flourescence microscopy system
    John Greally; Fiscal Year: 2003
    ..Firstly, we would like to be able to perform spectral karyotyping (SKY), a specialized fluorescence in situ hybridization (FISH) application...
  54. MECHANISM OF INDUCTION OF MALIGNANT GLIOMAS
    Demetrius Kokkinakis; Fiscal Year: 2002
    ..b>Karyotyping of mutated progenitor (multipotent) cells shows various degrees of chromosomal abnormalities that correlate ..
  55. INDUCTION AND ANALYSIS OF PROSTATE CANCER
    James Norris; Fiscal Year: 2001
    ..Assays that will be carried out include karyotyping, analysis of retrotransposon and microsatellite stability as a monitor for genomic instability, biochemical ..
  56. CORRELATES AND TREATMENT OF PANCREATIC CARCINOMA
    Charles Yeo; Fiscal Year: 1993
    ..cytometry, b) allelic loss patterns by allelic deletion analysis, c) ras mutations by PCR amplification and d) karyotyping. Correlations between the genetic data and the clinical outcome will be analyzed to determine if genetic ..
  57. Genotyping of the parasite Trichomonas vaginalis
    Peter Upcroft; Fiscal Year: 2004
    ..The genotyping system will be coupled to in situ hybridization of whole chromosomes and electrophoretic karyotyping for gene linkage studies, mapping genome organization and structure, determining genome variability among ..
  58. EGF FAMILY INDUCTION OF MAMMARY HYPERPLASIAS AND TUMORS
    Robert Dickson; Fiscal Year: 2000
    ..Genetic instability will be studied with a series of techniques, including newly established spectral karyotyping and comparative genomic hybridization methods...
  59. WAVELET-BASED AUTOMATED CHROMOSOME IDENTIFICATION
    Kenneth Castleman; Fiscal Year: 2000
    Commercial automated karyotyping instruments have improved to the point where the major factor limiting throughput is the time required for operator correction of chromosome classification errors...
  60. COMPARATIVE HYBRIDIZATION OF AP PCR ARRAYS
    SERGEI MALKHOSYAN; Fiscal Year: 2000
    ..This high-density unbiased molecular karyotyping will facilitate the discovery of novel cancer genes and open new horizons for the diagnostic and prognostic ..
  61. COMPARATIVE HYBRIDIZATION OF AP PCR ARRAYS
    SERGEI MALKHOSYAN; Fiscal Year: 2003
    ..This high-density unbiased molecular karyotyping will facilitate the discovery of novel cancer genes and open new horizons for the diagnostic and prognostic ..
  62. ASI-Spectral Karyotyping (SKY) System
    Muriel Davisson; Fiscal Year: 2005
    ..Funding is requested for the purchase of a semi-automated spectral karyotyping system, the ASI-SKY System, Applied Spectral Imaging, Inc...