cytogenetic analysis

Summary

Summary: Examination of chromosomes to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.

Top Publications

  1. 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
  2. pmc RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures
    Jason H Mendler
    The Ohio State University, Comprehensive Cancer Center, 1216 James Cancer Hospital, 300 West 10th Ave, Columbus, OH 43210, USA
    J Clin Oncol 30:3109-18. 2012
  3. ncbi Cytogenetic analysis of two species in the Phyllomedusa hypochondrialis group (Anura, Hylidae)
    Daniel Pacheco Bruschi
    Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade Estadual de Campinas UNICAMP, Campinas, SP, Brazil
    Hereditas 149:34-40. 2012
  4. ncbi Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation
    Elpida Fragouli
    Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford OX3 9DU, UK
    Hum Reprod 26:480-90. 2011
  5. pmc A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons
    Oronzo Capozzi
    Department of Genetics and Microbiology, University of Bari, 70126 Bari, Italy
    Genome Res 22:2520-8. 2012
  6. ncbi An integrated cytogenetic and physical map reveals unevenly distributed recombination spots along the papaya sex chromosomes
    Ching Man Wai
    Department of Tropical Plant and Soil Sciences, University of Hawaii, Honolulu, HI 96822, USA
    Chromosome Res 20:753-67. 2012
  7. ncbi Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
    Sylwia Chocholska
    Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
    Am J Med Genet A 140:604-10. 2006
  8. ncbi Acute myeloid leukemia: 2013 update on risk-stratification and management
    Elihu H Estey
    Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
    Am J Hematol 88:318-27. 2013
  9. pmc Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification
    Thomas Kroneis
    Institute of Cell Biology, Histology and Embryology, Center for Molecular Medicine, Medical University Graz, Graz, Austria
    Clin Chem 57:1032-41. 2011
  10. pmc Evidence for cytogenetic and fluorescence in situ hybridization risk stratification of newly diagnosed multiple myeloma in the era of novel therapie
    Prashant Kapoor
    Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
    Mayo Clin Proc 85:532-7. 2010

Research Grants

  1. MAPPING AND CLONING TRANSLOCATION BREAKPOINTS
    Janet Rowley; Fiscal Year: 2004
  2. Chromosome Analysis of Single Cells
    Brynn Levy; Fiscal Year: 2007
  3. Accelerating Cancer Research with Single Cell Arrays
    Heinz Ulrich Weier; Fiscal Year: 2009
  4. CNV Atlas of Human Development
    Ronald Wapner; Fiscal Year: 2010
  5. De novo copy number variation and gene discovery in human brain malformations
    William B Dobyns; Fiscal Year: 2012
  6. Identifying the spectrum of genetic alterations in high risk ALL
    CHARLES G contact MULLIGHAN; Fiscal Year: 2010
  7. Multiplex Detection of Mutations in Leukemia Patients
    Emmanuel Labourier; Fiscal Year: 2010
  8. MOUSE MODELS OF MYELOID LEUKEMIA
    Kevin Shannon; Fiscal Year: 2009
  9. MOLECULAR MARKERS OF PROGNOSIS IN MEDULLOBLASTOMA
    SANDRA BIGNER; Fiscal Year: 2000
  10. MOLECULAR MECHANISMS IN SCLERODERMA--SCL-70/TOPO I
    Angeline Douvas; Fiscal Year: 1990

Detail Information

Publications345 found, 100 shown here

  1. 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...
  2. pmc RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures
    Jason H Mendler
    The Ohio State University, Comprehensive Cancer Center, 1216 James Cancer Hospital, 300 West 10th Ave, Columbus, OH 43210, USA
    J Clin Oncol 30:3109-18. 2012
    ..To determine the association of RUNX1 mutations with therapeutic outcome in younger and older patients with primary cytogenetically normal acute myeloid leukemia (CN-AML) and with gene/microRNA expression signatures...
  3. ncbi Cytogenetic analysis of two species in the Phyllomedusa hypochondrialis group (Anura, Hylidae)
    Daniel Pacheco Bruschi
    Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade Estadual de Campinas UNICAMP, Campinas, SP, Brazil
    Hereditas 149:34-40. 2012
    ..rohdei. Chromosomal data from this study indicate karyotypic homeology between the two groups of P. hypochondrialis species and suggest the existence of more than one taxon under the P. rohdei name...
  4. ncbi Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation
    Elpida Fragouli
    Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford OX3 9DU, UK
    Hum Reprod 26:480-90. 2011
    ..We assessed blastocyst aneuploidy and mosaicism rates and evaluated the accuracy and efficiency of CGH and microarray-CGH (aCGH) for TE analysis...
  5. pmc A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons
    Oronzo Capozzi
    Department of Genetics and Microbiology, University of Bari, 70126 Bari, Italy
    Genome Res 22:2520-8. 2012
    ..The precise definition of synteny block boundaries and orientation, chromosomal fusions, and centromere repositioning events presented here will facilitate genome sequence assembly for these close relatives of humans...
  6. ncbi An integrated cytogenetic and physical map reveals unevenly distributed recombination spots along the papaya sex chromosomes
    Ching Man Wai
    Department of Tropical Plant and Soil Sciences, University of Hawaii, Honolulu, HI 96822, USA
    Chromosome Res 20:753-67. 2012
    ..This cytogenetic map provides essential information for evolutionary study of sex chromosomes in Caricaceae and will facilitate the analysis of papaya sex chromosomes...
  7. ncbi Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
    Sylwia Chocholska
    Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
    Am J Med Genet A 140:604-10. 2006
    ..Thus, the overall X inactivation pattern and inter-individual expression variability of the genes in distal Xp might be determinants of the phenotype associated with the deletion...
  8. ncbi Acute myeloid leukemia: 2013 update on risk-stratification and management
    Elihu H Estey
    Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
    Am J Hematol 88:318-27. 2013
    ....
  9. pmc Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification
    Thomas Kroneis
    Institute of Cell Biology, Histology and Embryology, Center for Molecular Medicine, Medical University Graz, Graz, Austria
    Clin Chem 57:1032-41. 2011
    ..We have developed a method enabling multiple analyses at the single-cell level that combines verification of the genomic identity of microchimeric cells with molecular genetic and cytogenetic diagnosis...
  10. pmc Evidence for cytogenetic and fluorescence in situ hybridization risk stratification of newly diagnosed multiple myeloma in the era of novel therapie
    Prashant Kapoor
    Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
    Mayo Clin Proc 85:532-7. 2010
    ..This study validates the high-risk features defined by FISH and CG in the Mayo risk-stratification model for patients with MM predominantly treated with novel therapies based on immunomodulatory agents...
  11. ncbi Integration of cytogenetic and genetic linkage maps of Lotus japonicus, a model plant for legumes
    Nobuko Ohmido
    Kobe University, Tsurukabuto, Nada, Japan
    Chromosome Res 18:287-99. 2010
    ..japonicus chromosomes is due to the heterochromatin...
  12. ncbi A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia
    O A Bernard
    U434 INSERM CEPH and SD401 No 434 CNRS, Paris, France
    Leukemia 15:1495-504. 2001
    ..These data establish the t(5;14)(q35;q32) as a major abnormality, and Hox11 family member activation as an important pathway in T ALL leukemogenesis...
  13. ncbi Cytogenetic mapping of the retroelements Rex1, Rex3 and Rex6 among cichlid fish: new insights on the chromosomal distribution of transposable elements
    G T Valente
    Departamento de Morfologia, Instituto de Biociencias, UNESP Universidade Estadual Paulista, Botucatu, Brazil
    Cytogenet Genome Res 133:34-42. 2011
    ....
  14. ncbi Testing standard and genetic parameters in 220 patients with multiple myeloma with complete data sets: superiority of molecular genetics
    John D Shaughnessy
    Myeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Br J Haematol 137:530-6. 2007
    ....
  15. ncbi Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies
    Jaroslaw P Maciejewski
    Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Br J Haematol 146:479-88. 2009
    ..SNP-A can complement metaphase karyotyping and will probably play an important role in clinical cytogenetic diagnostics...
  16. ncbi Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    Sau W Cheung
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 7:422-32. 2005
    ..We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH)...
  17. ncbi Preparation of Xenopus tropicalis whole chromosome painting probes using laser microdissection and reconstruction of X. laevis tetraploid karyotype by Zoo-FISH
    Vladimir Krylov
    Faculty of Science, Charles University in Prague, Vinicna 7, 128 44 Prague 2, Czech Republic
    Chromosome Res 18:431-9. 2010
    ..In addition, the observed translocation events could explain the origin of individuals with 18 chromosomes in diploid karyotypes, probably extinct after the genesis of the allotetraploid X. laevis (2n = 36)...
  18. ncbi Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study
    M D Stephenson
    Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada
    Hum Reprod 17:446-51. 2002
    ..The objectives of this study were to determine the frequency and distribution of cytogenetically abnormal miscarriages from couples with recurrent miscarriage and to compare the results with the general population...
  19. ncbi Comprehensive analysis of cooperative gene mutations between class I and class II in de novo acute myeloid leukemia
    Yuichi Ishikawa
    Department of Infectious Diseases, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Eur J Haematol 83:90-8. 2009
    ..These results collectively suggest that TP53 mutation might be a functionally distinguishable class of mutation...
  20. ncbi Gain of chromosome arm 9p is characteristic of primary mediastinal B-cell lymphoma (MBL): comprehensive molecular cytogenetic analysis and presentation of a novel MBL cell line
    M Bentz
    Abteilung Innere Medizin III, Universitat Ulm, Germany
    Genes Chromosomes Cancer 30:393-401. 2001
    ..We also present a novel MBL cell line, MedB-1, which carries the genetic aberrations characteristic of this entity...
  21. ncbi Peptide nucleic acids (PNAs) as diagnostic devices for genetic and cytogenetic analysis
    Franck Pellestor
    INSERM U847, Institute for Research in Biotherapy, Hopital St Eloi, Montpellier, France
    Curr Pharm Des 14:2439-44. 2008
    ....
  22. ncbi Cytogenetic and molecular delineation of a region of chromosome 3q commonly gained in marginal zone B-cell lymphoma
    Sophie Gazzo
    Laboratoire Central d Hématologie, Centre Hospitalier Lyon Sud, Pierre Benite, Lyon, France
    Haematologica 88:31-8. 2003
    ..By conventional cytogenetic analysis, unbalanced translocations involving chromosome 3 and leading to a partial trisomy 3q were identified in a ..
  23. pmc Novel genomic imbalances in B-cell splenic marginal zone lymphomas revealed by comparative genomic hybridization and cytogenetics
    J M Hernandez
    Servicio de Hematologia, Hospital Universitario and Centro de Investigación del Cáncer, Universidad de Salamanca CSIC, Salamanca, Spain
    Am J Pathol 158:1843-50. 2001
    ..05). In summary, chromosomal imbalances in regions 3q, 4q, 5q, 7q, 9q, 12q, and 20q have been detected by CGH in SMZL. Patients with SMZL displaying genetic losses by CGH had a short survival...
  24. ncbi Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 12:2153-65. 2003
    ....
  25. ncbi Molecular cytogenetic characterization of Aegilops biuncialis and its use for the identification of 5 derived wheat-Aegilops biuncialis disomic addition lines
    Annamária Schneider
    Agricultural Research Institute of the Hungarian Academy of Sciences, Martonvasar
    Genome 48:1070-82. 2005
    ..Genomic in situ hybridization (GISH) was used to differentiate the Ae. biuncialis chromosomes from wheat, but no chromosome rearrangements between wheat and Ae. biuncialis were detected in the addition lines...
  26. ncbi Molecular and transcriptional characterization of 17p loss in B-cell chronic lymphocytic leukemia
    Sonia Fabris
    Centro per lo Studio delle Leucemie, Dipartimento di Scienze Mediche, Universita di Milano, U O Ematologia 1, Fondazione IRCCS Policlinico, Milano, Italy
    Genes Chromosomes Cancer 47:781-93. 2008
    ....
  27. ncbi Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
    M Shevell
    Department of Neurology, McGill University, Montreal Children s Hospital, Canada
    Neurology 60:367-80. 2003
    ..To make evidence-based recommendations concerning the evaluation of the child with a nonprogressive global developmental delay...
  28. pmc Molecular cytogenetic analysis of prostatic adenocarcinomas from screening studies : early cancers may contain aggressive genetic features
    J C Alers
    Department of Pathology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands
    Am J Pathol 158:399-406. 2001
    ..Finally, early localized tumors, as detected by screening programs, harbor cancers with aggressive genetic characteristics...
  29. pmc Cytogenetic map of common bean (Phaseolus vulgaris L.)
    Artur Fonsêca
    Laboratory of Plant Cytogenetics, Department of Botany, Federal University of Pernambuco, Recife, PE, 50670 420, Brazil
    Chromosome Res 18:487-502. 2010
    ..Altogether, the results indicate that around half of the common bean genome is heterochromatic and that genes and repetitive sequences are intermingled in the euchromatin and heterochromatin of the species...
  30. ncbi Splenic marginal zone lymphoma
    Vito Franco
    Istituto di Anatomia e Istologia Patologica and Divisione di Ematologia con TMO, University of Palermo, Palermo, Italy
    Blood 101:2464-72. 2003
    ..To date, no definitive therapy has been established. Therapeutic options include treatment abstention, splenectomy, splenic irradiation, and chemotherapy...
  31. ncbi Comparative cytogenetics of cichlid fishes through genomic in-situ hybridization (GISH) with emphasis on Oreochromis niloticus
    Guilherme Targino Valente
    Laboratório de Genômica Integrativa, Departamento de Morfologia, Instituto de Biociencias, UNESP Universidade Estadual Paulista, Botucatu, SP, Brazil
    Chromosome Res 17:791-9. 2009
    ..niloticus resulted from chromosome rearrangement or accumulation caused by recombination suppression during the evolutionary history of the tilapiines...
  32. ncbi Cytogenetic analysis of Populus trichocarpa--ribosomal DNA, telomere repeat sequence, and marker-selected BACs
    M N Islam-Faridi
    Southern Institute of Forest Genetics, Southern Research Station, U S Forest Service, Forest Tree Molecular Cytogenetics Laboratory, Department of Ecosystem Science and Management, Texas A and M University, College Station, TX, USA
    Cytogenet Genome Res 125:74-80. 2009
    ..BAC-FISH will be useful for delineating each of the Populus trichocarpa chromosomes and improving the sequence assembly of this model angiosperm tree species...
  33. ncbi Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis
    Jungwon Huh
    Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA
    Genes Chromosomes Cancer 49:390-9. 2010
    ..Our data suggest that SNP-A is useful for the detection of cryptic aberrations of chromosome 20q and allows for a more precise characterization of complex karyotypes. Furthermore, SNP-A allowed definition of a CDR on 20q...
  34. ncbi Epithelioid hemangioendothelioma of the spinal cord: Description of a case with cytogenetic analysis
    Gianluca Marucci
    Section of Anatomic Pathology, Department of Oncological Sciences, University of Bologna, Bellaria Hospital, Bologna, Italy
    Int J Surg Pathol 14:340-3. 2006
    ..These cells were immunoreactive for CD31 and factor VIII antibodies. Cytogenetic analysis disclosed two clones: 44-45X, - Y [cp3]/46XY[11]...
  35. ncbi Oxidative damage and cytogenetic analysis in leukocytes of Parkinson's disease patients
    L Migliore
    Department of Human and Environmental Sciences, University of Pisa, Italy
    Neurology 58:1809-15. 2002
    ..Increased lipid peroxidation and oxidative DNA damage have been reported in the CNS. Markers of oxidative stress have been identified in the blood of patients with PD...
  36. ncbi Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia
    S Meyer-Monard
    Hematology, University Hospital Basel, Basel, Switzerland
    Leukemia 20:247-53. 2006
    ..Molecular typing revealed a fusion transcript in 49 (26%) patients and cytogenetic analysis revealed an abnormal karyotype in 119 (64%)...
  37. ncbi Molecular cytogenetic analysis of genome structure in Lupinus angustifolius and Lupinus cosentinii
    Inga Hajdera
    Department of Plant Anatomy and Cytology, University of Silesia, Jagiellonska 28, 40 032 Katowice, Poland
    Theor Appl Genet 107:988-96. 2003
    Molecular cytogenetic analysis of Lupinus angustifolius and Lupinus cosentinii was performed using flow cytometry, fluorescence in situ hybridisation (FISH) and differential chromosome staining. Genome size was determined as 2.07 pg for L...
  38. ncbi Dose estimation software for radiation biodosimetry
    Elizabeth A Ainsbury
    Health Protection Agency Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxfordshire OX11 0RQ England
    Health Phys 98:290-5. 2010
    b>Cytogenetic analysis of chromosome damage in blood lymphocytes is widely used for radiation biodosimetry...
  39. pmc Novel genes associated with colorectal cancer are revealed by high resolution cytogenetic analysis in a patient specific manner
    Hisham Eldai
    Bioinformatics, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
    PLoS ONE 8:e76251. 2013
    ..Our analysis shows patient specific CRC manifestations at the genomic level and that these different events affect individual CRC patients differently. ..
  40. pmc Long-term disease-free survivors with cytogenetically normal acute myeloid leukemia and MLL partial tandem duplication: a Cancer and Leukemia Group B study
    Susan P Whitman
    Division of Hematology and Oncology, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43240, USA
    Blood 109:5164-7. 2007
    ..5-7.7 years). Intensive consolidation therapy that included autologous peripheral stem-cell transplantation during CR1 may have contributed to the better outcome of this historically poor-prognosis group of CN-AML patients with MLL-PTD...
  41. ncbi Chromosomal speciation in mice: a cytogenetic analysis of recombination
    Valeria Merico
    Dipartimento di Biologia e Biotecnologie Lazzaro Spallanzani, University of Pavia, Via Ferrata 9, 27100, Pavia, Italy
    Chromosome Res 21:523-33. 2013
    ..The low frequency of proximal recombination in pentavalents of CHPO-IUVA hybrids may promote reproductive isolation between the CHPO and IUVA races, when coupled with reduced hybrid unfitness...
  42. pmc Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding
    M Kwiatek
    Laboratory of Distant Crosses, Institute of Plant Genetics, Polish Academy of Sciences, Strzeszynska 34, 60 479, Poznan, Poland
    J Appl Genet 54:147-55. 2013
    ..An importance of the cytogenetic markers in plant breeding and their possible role in chromosome structure, function and evolution is discussed...
  43. ncbi Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence
    Germana Falcone
    Department of Cell Biology and Neurosciences, National Institute of Health, Rome, Italy
    Aging Cell 12:312-5. 2013
    ....
  44. ncbi Chromosome evolution in Xenarthra: new insights from an ancient group
    M Svartman
    Departamento de Biologia Geral, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
    Cytogenet Genome Res 137:130-43. 2012
    ....
  45. ncbi Cytogenetic analysis of 531 Chinese women with premature ovarian failure
    Xue Jiao
    Center for Reproductive Medicine, Provincial Hospital affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China
    Hum Reprod 27:2201-7. 2012
    ..This retrospective cohort study was to determine the frequency and types of chromosomal abnormalities in Han Chinese women with well-documented premature ovarian failure (POF)...
  46. ncbi Comparative molecular cytogenetic analysis of three Leuciscus species (Pisces, Cyprinidae) using chromosome banding and FISH with rDNA
    Alicja Boron
    Department of Zoology, Faculty of Biology, University of Warmia and Mazury, M Oczapowskiego 5, Olsztyn, 10 718, Poland
    Genetica 135:199-207. 2009
    A comparative molecular cytogenetic analysis was performed on three species of the genus Leuciscus viz. ide L. idus, chub L. cephalus and dace L...
  47. ncbi Environmental exposure to carcinogenic polycyclic aromatic hydrocarbons--the interpretation of cytogenetic analysis by FISH
    Radim J Sram
    Laboratory of Genetic Ecotoxicology, Institute of Experimental Medicine AS CR, v v i, and Health Institute of Central Bohemia, Videnska 1083, 142 20 Prague 4, Czech Republic
    Toxicol Lett 172:12-20. 2007
    ..Chromosomal aberrations were analyzed by fluorescent in situ hybridization (FISH) and conventional cytogenetic analysis. Urinary cotinine, plasma levels of vitamins A, E and C, folate, total cholesterol, HDL, LDL cholesterols ..
  48. pmc TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study
    Klaus H Metzeler
    The Ohio State University Comprehensive Cancer Center, 1216 James Cancer Hospital, 300 West 10th Ave, Columbus, OH 43210, USA
    J Clin Oncol 29:1373-81. 2011
    ....
  49. ncbi Cytogenetic analysis of diploidy in cloned bovine embryos using an improved air-dry karyotyping method
    Guang Peng Li
    Department of Animal, Dairy and Veterinary Sciences, Utah State University, Logan, UT 84322, USA
    Theriogenology 63:2434-44. 2005
    ..We concluded that the modified air-dry method provided a larger source of mitotic nuclei for chromosome analyses of cloned bovine embryos...
  50. ncbi Simultaneous presence of bovine papillomavirus and bovine leukemia virus in different bovine tissues: in situ hybridization and cytogenetic analysis
    A Yaguiu
    Laboratorio de Genetica, Instituto Butantan, Sao Paulo, SP, Brasil
    Genet Mol Res 7:487-97. 2008
    ..BLV DNA sequences were not detected in their progeny. A newborn calf that was negative for BLV infection showed specific chromosome rearrangements possibly related to the effect of infection with BPV...
  51. ncbi A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15
    J Wirth
    Max Planck Institut fur Molekulare Genetik
    Hum Mol Genet 10:201-10. 2001
    ..Our data suggest that lack of expression of these sequences contributes to the PWS phenotype...
  52. pmc Cytogenetic analysis of Phyllomedusa distincta Lutz, 1950 (2n = 2x = 26), P. tetraploidea Pombal and Haddad, 1992 (2n = 4x = 52), and their natural triploid hybrids (2n = 3x = 39) (Anura, Hylidae, Phyllomedusinae)
    Simone Lilian Gruber
    Instituto de Biociencias, Departamento de Biologia, UNESP, Universidade Estadual Paulista, Av, 24a, 1515, Rio Claro 13506 900, SP, Brazil
    BMC Genet 14:75. 2013
    ..We analyse the chromosomes of P. distincta, P. tetraploidea, and their triploid hybrids, to enlighten the origin of polyploidy and to obtain some evidence on diploidisation of tetraploid karyotype...
  53. ncbi Superficial primitive Ewing's sarcoma: a clinicopathologic and molecular cytogenetic analysis of 14 cases
    Marie J Terrier-Lacombe
    Pathology Department, Institut Gustave Roussy, Villejuif, France
    Mod Pathol 22:87-94. 2009
    ..Given the difficulty of the diagnosis and the importance of an adapted treatment, a confirmation of the diagnosis by molecular or cytogenetic techniques is recommended when dealing with a superficial tumor...
  54. ncbi Prognostic value of cytogenetic analysis in clear cell renal carcinoma: a study on 131 patients with long-term follow-up
    Alessandro Antonelli
    Anticancer Res 30:4705-9. 2010
    b>Cytogenetic analysis has a role in diagnosis of conventional renal cell carcinoma, but its role in prognosis is still matter of debate. This study reviews the Authors' experience in cytogenetic analysis of clear cell renal carcinoma.
  55. ncbi Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints
    M Manvelyan
    Department of Genetics and Laboratory of Cytogenetics, State University, Jerewan 375025, Armenia
    Int J Mol Med 19:855-64. 2007
    ..Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon...
  56. ncbi Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup
    Fleurisca J Korteweg
    Department of Obstetrics, University Medical Centre Groningen and University of Groningen, Groningen, The Netherlands
    Obstet Gynecol 111:865-74. 2008
    To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death.
  57. pmc Adult acute erythroleukemia: an analysis of 91 patients treated at a single institution
    F P S Santos
    Department of Leukemia, University of Texas M D Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA
    Leukemia 23:2275-80. 2009
    ..The diagnosis of AML-M6 does not impart by itself a worse prognosis, and treatment decisions on this disease should be guided by well known AML prognostic factors...
  58. ncbi Molecular cytogenetic analysis of a human breast metastasis model: identification of phenotype-specific chromosomal rearrangements
    Steve Goodison
    Department of Pathology, University of Florida, Shands Health Science Center, 655 West 8th Street, Jacksonville, FL 32209 6511, USA
    Cancer Genet Cytogenet 156:37-48. 2005
    ..The integration of these karyotypic data with other cytogenetic and genomic databases will enhance our ability to identify genes that play critical roles in cancer development and progression...
  59. ncbi Limitations associated with analysis of cytogenetic data for biological dosimetry
    Volodymyr A Vinnikov
    Grigoriev Institute for Medical Radiology of the Academy of Medical Science of Ukraine, Kharkiv, 61024, Ukraine
    Radiat Res 174:403-14. 2010
    ..This will allow the investigator to take a probabilistic approach to analysis of cytogenetic data, which can be considered highly appropriate for biological dose estimation...
  60. ncbi Molecular cytogenetic analysis of Spitz nevi shows clear differences to melanoma
    B C Bastian
    Cancer Genetics Program, Cancer Center, University of California San Francisco, 94143 0808, USA
    J Invest Dermatol 113:1065-9. 1999
    ....
  61. ncbi Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-cell lymphoma/leukemia cell lines
    Hiroyuki Tagawa
    Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan
    Genes Chromosomes Cancer 34:175-85. 2002
    ..We conclude that TCBA1 is a possible target gene for T-cell lineage-specific chromosome aberrations at 6q21...
  62. ncbi Cytogenetic analysis of a malignant triton tumour by comparative genomic hybridization (CGH) and review of the literature
    Dimitrios Koutsimpelas
    Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Eur Arch Otorhinolaryngol 268:1391-6. 2011
    ..Comparing our results with those of previous studies, we found evidence for recurrent genomic aberrations at the chromosomes 1, 16, 17, 19, and 22 suggesting the involvement of several oncogenes in the genesis of MTT...
  63. ncbi Deletions of chromosome arms 7p and 7q in adult acute myeloid leukemia: a marker chromosome confirmed by array comparative genomic hybridization
    Kwang Sook Woo
    Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Dongdaesin Dong, Seo Gu, Busan, 602 715, Korea
    Cancer Genet Cytogenet 194:71-4. 2009
    ..There is evidence that the outcome is better when -7 or del(7q) occurs in patients with a simple karyotype, compared with a complex karyotype...
  64. ncbi Taxonomy and inventory of the cytospecies and cytotypes of the Simulium damnosum complex (Diptera: Simuliidae) in relation to onchocerciasis
    R J Post
    The Natural History Museum London and London School of Hygiene and Tropical Medicine, UK
    Trop Med Int Health 12:1342-53. 2007
    ..There are 183 inversions known from the complex as a whole, of which 49% are fixed and/or diagnostic between cytoforms, and the fixed/diagnostic inversions seem to occur disproportionately on chromosome arm 2L...
  65. ncbi Acute erythroid leukemia
    Zhuang Zuo
    Department of Hematopathology, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Arch Pathol Lab Med 134:1261-70. 2010
    ..The pure erythroid leukemia subtype is composed of 80% or more immature erythroblasts. Although these morphologic criteria appear straightforward, AEL overlaps with other types of AML and myelodysplastic syndrome that are erythroid rich...
  66. ncbi Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study
    M S F Wong
    Department of Obstetrics and Gynaecology, Kwong Wah Hospital, 25 Waterloo Road, Hong Kong
    Hong Kong Med J 11:267-72. 2005
    ..To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong...
  67. ncbi Enhanced yield of chromosome aberrations after CT examinations in paediatric patients
    G Stephan
    Federal Office for Radiation Protection, Oberschleissheim, Germamy
    Int J Radiat Biol 83:281-7. 2007
    ..To determine whether computed tomography (CT) could enhance the chromosome aberration yields in paediatric patients...
  68. pmc Cytogenetic analysis of spontaneously activated noninseminated oocytes and parthenogenetically activated failed fertilized human oocytes--implications for the use of primate parthenotes for stem cell production
    T Almeida Santos
    Serviço de Genética Médica da Faculdade de Medicina de Coimbra, Coimbra, Portugal
    J Assist Reprod Genet 20:122-30. 2003
    ..corrected] Spontaneous parthenogenetically activated noninseminated oocytes and failed fertilized oocytes after ART activated by puromycin were studied to assess cleavage ability and the cytogenetic constitution of the resulting embryos...
  69. ncbi Analysis and comparison of clinicohematological parameters and molecular and cytogenetic response of two Bcr/Abl fusion transcripts
    S Polampalli
    Department of Medical Oncology, Molecular Biology Laboratory, Tata Memorial Hospital, Mumbai, India
    Genet Mol Res 7:1138-49. 2008
    ..e., blast crisis, and that there is no difference in treatment response between the two transcripts. However, further studies are required to understand the molecular pathways involved in the Bcr/Abl mechanism...
  70. pmc Molecular cytogenetic analysis of Podocarpus and comparison with other gymnosperm species
    Brian G Murray
    School of Biological Sciences, University of Auckland, New Zealand
    Ann Bot 89:483-9. 2002
    ..Some retroelements such as copia pPonty3 and gypsy pPot1li are more abundant in the genome of Picea abies and Ginkgo biloba than in the species from which they were amplified...
  71. pmc Comparison of genetic and clinical aspects in patients with acute myeloid leukemia and myelodysplastic syndromes all with more than 50% of bone marrow erythropoietic cells
    Ulrike Bacher
    Department for Stem Cell Transplantation, University of Hamburg, Hamburg, Germany
    Haematologica 96:1284-92. 2011
    ..We aimed to investigate the biological/genetic justification for the different categories of myeloid malignancies with increased erythropoiesis (≥50% of bone marrow cells)...
  72. ncbi Cytogenetic analysis of a primary bone angiosarcoma
    Jennifer B Dunlap
    Department of Pathology, Oregon Health and Sciences University, 3181 S W Sam Jackson Park Road, Portland, OR 97239, USA
    Cancer Genet Cytogenet 194:1-3. 2009
    ....
  73. ncbi Cyclin D2 dysregulation by chromosomal translocations to TCR loci in T-cell acute lymphoblastic leukemias
    E Clappier
    Genome Rearrangements and Cancer Group, INSERM U728 and Institut Universitaire d Hematologie, Hôpital Saint Louis and Paris 7 University, Paris, France
    Leukemia 20:82-6. 2006
    ..This report is the first clear evidence of a direct involvement of cyclin D2 in human cancer due to recurrent somatic genetic alterations...
  74. ncbi Evidence for non-disomic inheritance in a Citrus interspecific tetraploid somatic hybrid between C. reticulata and C. limon using SSR markers and cytogenetic analysis
    Mourad Kamiri
    Unité de Recherche Multiplication végétative, CIRAD, San Giuliano, 20230, France
    Plant Cell Rep 30:1415-25. 2011
    ..b>Cytogenetic analysis of meiosis in the somatic hybrid revealed 11% tetravalents and 76% bivalents...
  75. ncbi Cytogenetic analysis of cancer cell lines
    Roderick A F MacLeod
    DSMZ Deutsche Sammlung von Mikroorganismen und Zellkulturen, Braunschweig, Germany
    Methods Mol Biol 731:57-78. 2011
    ..Thus, evidence-based protocols are described for hypotonic harvesting, rapid G-banding, and FISH and SKY analysis of cell cultures to allow troubleshooting and fine-tuning to suit the requirements of individual cell lines...
  76. ncbi New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients
    Detlef Haase
    Department of Hematology and Oncology, University of Gottingen, Gottingen, Germany
    Blood 110:4385-95. 2007
    ..Our analyses offer new insights into the prognostic significance of rare chromosomal abnormalities and specific karyotypic combinations in MDS...
  77. ncbi Plexiform fibrohistiocytic tumor with molecular and cytogenetic analysis
    Stéphanie Leclerc-Mercier
    Departments of Pathology, Necker Enfants Malades Hospital, APHP, Paris, France
    Pediatr Dermatol 28:26-9. 2011
    ..b>Cytogenetic analysis revealed a 46,X,del(X)(q13)[3]/46,XX[23] karyotype...
  78. ncbi Cytogenetics for the study of telomere function in plants
    J Siroky
    Department of Plant Developmental Genetics Institute of Biophysics, Czech Academy of Sciences, v v i, Brno, Czech Republic
    Cytogenet Genome Res 122:374-9. 2008
    ....
  79. ncbi Interphase cytogenetic analysis in Argentinean B-cell chronic lymphocytic leukemia patients: association of trisomy 12 and del(13q14)
    Christian Chena
    Departamento de Genetica, Instituto de Investigaciones Hematologicas, Academia Nacional de Medicina, Buenos Aires, Argentina
    Cancer Genet Cytogenet 146:154-60. 2003
    ..The coexistence of trisomy 12 with deletion 13q14 was observed in a higher frequency than reported in the literature. A probable adverse prognosis is suggested for this group of patients, likely related to clonal evolution...
  80. ncbi Why can't we find a better biological indicator of dose?
    Philippe Voisin
    Institut de Radioprotection et de Surete Nucleaire, Direction de la RadioProtection de l Homme, Service de Radiobiologie et d Epidemiologie, BP 17, 92262 Fontenay aux Roses Cedex, France
    Radiat Prot Dosimetry 112:465-9. 2004
    ..Developments in modern molecular biology have brought new approaches into prospect but so far they are not routinely applicable. The potential use and throughput of these new technologies is discussed...
  81. ncbi Comparative cytogenetic analysis on four tree frog species (Anura, Hylidae, Hylinae) from Brazil
    S Kasahara
    Departamento de Biologia, Instituto de Biociencias, Universidade Estadual Paulista UNESP, Rio Claro, SP, Brasil
    Cytogenet Genome Res 103:155-62. 2003
    A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication ..
  82. ncbi Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 114:198-206. 2004
    ..Alternative models are also discussed...
  83. ncbi Genomic stability and functional activity may be lost in telomerase-transduced human CD8+ T lymphocytes
    Marco W J Schreurs
    Department of Pathology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Blood 106:2663-70. 2005
    ..In view of this, we performed an extensive cytogenetic analysis of hTERT-transduced MART-1 (melanoma antigen recognized by T cell 1)-and human papillomavirus type 16 (..
  84. ncbi Cytogenetic analysis of myoepithelial cell carcinoma of salivary gland
    Elisabetta Magrini
    Anatomia Patologica, Universita di Bologna, Ospedale Bellaria, Via Altura 3, 40139 Bologna, Italy
    Virchows Arch 444:82-6. 2004
    ..b>Cytogenetic analysis showed a composite karyotype in the primary tumour: 45-46,XY, +3[cp3]/ 44-45,XY, -17[cp4]/ 46,XY[5]...
  85. ncbi Assessment by cytogenetic analysis of the radioprotection properties of propolis extract
    A Montoro
    Servicio de Protección Radiológica, Hospital La Fe, Av Campanar no 21, Valencia, 46009, Spain
    Radiat Prot Dosimetry 115:461-4. 2005
    ....
  86. ncbi Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis
    Achuthan Rajgopal
    Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, UK
    Cancer Genet Cytogenet 142:46-50. 2003
    ..The faint terminal subbands often make cytogenetic analysis of 1p36 particularly difficult...
  87. ncbi A comprehensive genetic and histopathologic analysis identifies two subgroups of B-cell malignancies carrying a t(14;19)(q32;q13) or variant BCL3-translocation
    J I Martin-Subero
    Institute of Human Genetics, University Hospital Schleswig Holstein Campus Kiel, Christian Albrechts University, Kiel, Germany
    Leukemia 21:1532-44. 2007
    ..g. trisomy 12) and unmutated IgVH genes. In conclusion, our study indicates that BCL3 translocations are not restricted to B-CLL but present in a heterogeneous group of B-cell malignancies...
  88. ncbi Lipoblastoma in a 23-year-old male: distinction from atypical lipomatous tumor using cytogenetic and fluorescence in-situ hybridization analysis
    Raf Sciot
    Department of Pathology University Hospital, Catholic University of Leuven, University Hospital St Rafael, Minderbroedersstraat 12, 3000 Leuven, Belgium
    Virchows Arch 442:468-71. 2003
    ..The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well...
  89. ncbi Rearrangement of chromosomal region 8q11-13 in lipomatous tumours: correlation with lipoblastoma morphology
    Petter Brandal
    Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway
    J Pathol 208:388-94. 2006
    ..When selective therapies tailor-made against the specific pathogenetic rearrangement become available, it will become mandatory to pay more attention to the genetic constitution of the tumour cells than to their phenotypic appearance...
  90. ncbi Primary renal synovial sarcoma confirmed by cytogenetic analysis: a lesion distinct from sarcomatoid renal cell carcinoma
    Beverley A Shannon
    Tissugen Pty Ltd, Westernn Australia
    Arch Pathol Lab Med 129:238-40. 2005
    ..We report a case of primary renal synovial sarcoma confirmed by standard cytogenetic analysis, showing the characteristic t(X; 18)(p11.2:q11...
  91. ncbi PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2)
    A Röpke
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Cytogenet Genome Res 119:33-8. 2007
    ..In conclusion, our results demonstrate that low-level amplification is a further mechanism of PLAG1 activation in lipoblastomas...
  92. ncbi [Cytogenetic analysis of material from spontaneous abortion]
    Daniel Lorber Rolnik
    Grupo Fleury Medicina and Saúde, Sao Paulo, SP
    Rev Assoc Med Bras 56:681-3. 2010
    ..To describe chromosomal abnormalities in spontaneous abortion material...
  93. ncbi Cytogenetic analysis of giant oocytes and zygotes to assess their relevance for the development of digynic triploidy
    B Rosenbusch
    Department of Gynecology and Obstetrics, University of Ulm, Prittwitzstrasse 43, D 89075 Ulm, Germany
    Hum Reprod 17:2388-93. 2002
    ..In order to assess the role of binucleate giant oocytes for generating digynic triploidy, we studied their frequency, maturation patterns and chromosomal complements at metaphase II (MII) or after fertilization...
  94. ncbi Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey
    M Balkan
    Department of Medical Biology and Genetic, Medical Faculty, Dicle University, Diyarbair, Turkey
    Genet Mol Res 9:1094-103. 2010
    ..The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the ..
  95. ncbi CD40L stimulation enhances the ability of conventional metaphase cytogenetics to detect chromosome aberrations in B-cell chronic lymphocytic leukaemia cells
    Raymund Buhmann
    GSF, National Research Center for Environment and Health, Genzentrum and Medizinische Klinik III, Klinikum der Universitaet Muenchen Grosshadern, Germany
    Br J Haematol 118:968-75. 2002
    ..1), so far unreported in B-CLL, was detected. Taken together, the results of our study show the potential of CD40L-enhanced metaphase cytogenetics to detect more and new chromosome aberrations in B-CLL...
  96. ncbi Molecular cytogenetic characterization of marginal zone B-cell lymphoma: correlation with clinicopathologic findings in 14 cases
    A Cuneo
    Dipartimento di Scienze Biomediche e Terapie Avanzate, Sezione di Ematologia, Universita di Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
    Haematologica 86:64-70. 2001
    ..To improve the definition of the incidence and significance of chromosome lesions occurring in marginal zone B-cell lymphoma (MZBCL)...
  97. ncbi Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population
    Swarna Mandava
    Cytogenetic Division, Super Religare Laboratories Ltd, Mumbai, India
    Genet Test Mol Biomarkers 14:499-504. 2010
    ..Down syndrome (DS) is the most common genetic reason for learning disability and congenital malformations in the human population, occurring with an incidence of 1 in 650-1000 newborns...
  98. pmc Cytogenetic analysis of the third chromosome heterochromatin of Drosophila melanogaster
    Dmitry E Koryakov
    Department of Cytology and Genetics, Novosibirsk State University, Novosibirsk, 630090 Russia
    Genetics 160:509-17. 2002
    ..Intriguingly, a major part of chromosome 3 heterochromatin was found to be "empty," in that it did not contain either known genes or known satellite DNAs...
  99. ncbi Cytogenetic analysis of two related Deltochilum (Coleoptera, Scarabaeidae) species: Diploid number reduction, extensive heterochromatin addition and differentiation
    D C Cabral-de-Mello
    Departamento de Genetica, Centro de Ciências Biológicas CCB, Universidade Federal de Pernambuco UFPE, Recife, Pernambuco, Brazil
    Micron 41:112-7. 2010
    ....
  100. ncbi Interphase cytogenetic analysis of 1q12 satellite III DNA in melanocytic lesions: increased aneuploidy with malignant histology
    J D Lee
    Department of Dermatology, Medical University of South Carolina, 96 Jonathan Lucas, Charleston, SC 29425, USA
    Am J Dermatopathol 23:176-80. 2001
    To examine the relationship of chromosome 1 copy number to melanocytic tumorigenesis, interphase cytogenetic analysis of 1q12 satellite III DNA was performed on the spectrum of melanocytic lesions comprising Clark's tumor progression ..
  101. ncbi Morphological and cytogenetic analysis of human giant oocytes and giant embryos
    Hanna Balakier
    CReATe Program, Inc, Toronto, Canada
    Hum Reprod 17:2394-401. 2002
    ..We report the morphology, cytogenetics and developmental potential of human giant oocytes from patients undergoing assisted reproductive technologies...

Research Grants62

  1. MAPPING AND CLONING TRANSLOCATION BREAKPOINTS
    Janet Rowley; Fiscal Year: 2004
    ..Careful cytogenetic analysis has defined the breakpoints in recurring chromosome rearrangements, and this has been the major tool ..
  2. Chromosome Analysis of Single Cells
    Brynn Levy; Fiscal Year: 2007
    ..Since it is not feasible to culture and perform conventional cytogenetic analysis on single cells, CGH presents itself as an attractive technique for identifying chromosomal imbalances in ..
  3. Accelerating Cancer Research with Single Cell Arrays
    Heinz Ulrich Weier; Fiscal Year: 2009
    ..tumors are rarely in metaphase, our ongoing research focuses on the development of technologies for the cytogenetic analysis of interphase cells...
  4. CNV Atlas of Human Development
    Ronald Wapner; Fiscal Year: 2010
    ..It is very likely that cytogenomic arrays will become the method of choice for both pediatric and prenatal cytogenetic analysis within the next few years...
  5. De novo copy number variation and gene discovery in human brain malformations
    William B Dobyns; Fiscal Year: 2012
    ..that more than 10% of patients with ACC, CVH or PMG will have de novo CNV below the resolution of routine cytogenetic analysis, but detectable by current array platforms. We therefore expect to identify 70-100 patients with small CNV...
  6. Identifying the spectrum of genetic alterations in high risk ALL
    CHARLES G contact MULLIGHAN; Fiscal Year: 2010
    ..the Philadelphia chromosome (BCR-ABL1), low hypodiploid ALL, and ALL cases lacking changes on conventional cytogenetic analysis. We aim to detect new genetic changes, and also examine associations between genetic changes and treatment ..
  7. Multiplex Detection of Mutations in Leukemia Patients
    Emmanuel Labourier; Fiscal Year: 2010
    ..Risk stratification for these diseases has shifted from morphology and cytogenetic analysis to molecular markers...
  8. MOUSE MODELS OF MYELOID LEUKEMIA
    Kevin Shannon; Fiscal Year: 2009
    ..of 5q31 and 7q22 found in human myeloid leukemia for gene discovery and functional studies;and, (3) harness cytogenetic analysis, SKY, and expression profiling to address specific questions relevant to the pathogenesis and treatment of ..
  9. MOLECULAR MARKERS OF PROGNOSIS IN MEDULLOBLASTOMA
    SANDRA BIGNER; Fiscal Year: 2000
    ..b>Cytogenetic analysis and restriction fragment length polymorphism analysis using Microsatellite probes have shown that ..
  10. MOLECULAR MECHANISMS IN SCLERODERMA--SCL-70/TOPO I
    Angeline Douvas; Fiscal Year: 1990
    ..These in vitro studies will be corroborated by cytogenetic analysis. The proposed investigations will allow us to distinguish among several possible mechanisms of collagen ..
  11. IN SITU HYBRIDIZATION IN PRENATAL DIAGNOSIS
    Kenneth Castleman; Fiscal Year: 1993
    ..Using DNA probes on interphase cells avoids the culturing required for routine cytogenetic analysis. This will reduce the time and cost of prenatal diagnosis and permit extension of the test to a larger ..
  12. GENOMIC ABERRATIONS BY OPTICAL MAPPING
    David Schwartz; Fiscal Year: 2000
    ..problems with sample preparation and heterogeneity of karyotype within a single tumor have hampered cytogenetic analysis of solid tumors as a clinical toot...
  13. BETA GALACTOSIDASES IN GLOBOID CELL LEUKODYSTROPHY
    Thaddeus Kurczynski; Fiscal Year: 1980
    ..b>Cytogenetic analysis of the hybrid cells will be performed and attempts will be made to localize the genetic control of various ..
  14. GLIOMA HETEROGENEITY AND CHEMOSENSITIVITY
    Adrienne Scheck; Fiscal Year: 2002
    ..artificial chromosomes (BACs) that span the length of chromosome 22 as probes for molecular and molecular cytogenetic analysis (Specific Aim 1)...
  15. PROGENITOR COLONY RT-PCR ANALYSIS IN CML TREATMENT
    Melanie Ehrlich; Fiscal Year: 2000
    ..In studies on CML patients in which only uncultured material is used for this RT-PCR or in which cytogenetic analysis or fluorescence in situ hybridization is done to detect the BCR/ABL translocation, the majority of the ..
  16. AUTOMATED KARYOTYPING SYSTEM
    David Patterson; Fiscal Year: 1990
    ..All of this work is critically dependent upon cytogenetic analysis of the highest caliber...
  17. BIOMEDICAL RESEARCH SUPPORT GRANT
    ADRIANNE ROGERS; Fiscal Year: 1991
    ..All of this work is critically dependent upon cytogenetic analysis of the highest caliber...
  18. GENETICS AND BIOLOGY OF HUMAN OVARIAN TERATOMAS
    Urvashi Surti; Fiscal Year: 1992
    ..for this purpose, each teratoma and the corresponding normal tissue will be cultured for cytogenetic analysis using various banding techniques to detect chromosomal heteromorphisms...
  19. RECOVERY OF FETAL CELLS IN MATERNAL BLOOD
    DAVID SAMMONS; Fiscal Year: 1999
    ..and the common aneuploidies; the results will be compared with those obtained after conventional cytogenetic analysis. Cultures will be evaluated for paternal DNA sequences and for karyotype...
  20. NEOPLASTIC PROGRESSION IN ULCERATIVE COLITIS
    Frederic Waldman; Fiscal Year: 1999
    ..In addition, the proposed studies offer the prospect of developing an objective surveillance test based on molecular cytogenetic analysis of chromosomes for the early detection of UC-related neoplasia.
  21. MOLECULAR CYTOGENETIC ANALYSIS OF HUMAN CHROMOSOMES
    JAY GEORGE; Fiscal Year: 1992
    DESCRIPTION (Adapted from applicant's abstract):Cytogenetic analysis is an important diagnostic laboratory tool in medical genetics, oncology, and genetic research...
  22. GENETIC ANALYSIS OF B CELL LEUKEMIA
    John Cowell; Fiscal Year: 2001
    ..b>Cytogenetic analysis of tumor cells reveals that up to half of these leukemias show structural rearrangements involving ..
  23. CYTOGENETIC SCREENING OF MAMMARY EPITHELIAL CELLS
    Bassem Haddad; Fiscal Year: 2001
    ..We have developed a new approach that can be applied to early detection, based on cytogenetic analysis using comparative genomic hybridization (CGH) of epithelial cells derived from nipple aspirate fluid (NAF)...
  24. IMAGE PROCESSING IN PRENATAL ANALYSIS
    DAVID BING; Fiscal Year: 1993
    For prenatal cytogenetic analysis, cells are now sampled from the amniotic sac, a procedure which carries some risk and some women will not submit to it. There is a desire to find a less invasive and less risky sampling procedure...
  25. Automatic Metaphase Spread Finder using Novel ScanScope
    DIRK SOENKSEN; Fiscal Year: 2001
    Manual slide scanning is one of the most tedious and time-consuming elements of cytogenetic analysis. The development and application of a new automated digital scanning technology, termed ScanScope, is proposed for efficiently finding ..
  26. GENETIC PATHWAYS TOWARD GLIOMAGENESIS
    Elizabeth Maher; Fiscal Year: 2003
    ..b>Cytogenetic analysis of clinical glioma specimens has identified multiple genetic lesions known to be involved in oncogenic/..
  27. GORDON RESEARCH CONFERENCE ON MEIOSIS
    Nancy Kleckner; Fiscal Year: 1992
    ..In addition to the scheduled talks, there will be a workshop on the cytogenetic analysis of chromosome pairing and two poster sessions...
  28. MOLECULAR ANALYSIS OF TEL AND TEL/AML1 IN PREB LEUKEMIA
    Giuseppina Nucifora; Fiscal Year: 2001
    ..Although the t(12;21) is rarely seen by cytogenetic analysis, the TEL/AML1 fusion is detected in about 25-30% of childhood ALL by using molecular analysis...
  29. MOLECULAR AND CYTOGENETIC ANALYSIS OF PROSTATE CARCINOMA
    Arthur Brothman; Fiscal Year: 2000
    ..It is hoped that these studies will lead to both the ultimate identification of tumor suppressor genes in prostate cancer as well as FISH prognostic tests. ..
  30. DETECTION OF MDS USING FISH IN PRETRANSPLANT SAMPLES
    David Hurd; Fiscal Year: 2002
    ..While the tMDS/tAML is then expressed post AHSCT, the etiology is the prior treatment. Standard cytogenetic analysis of bone marrow samples prior to transplant has not proven to be sensitive enough to reliably detect which ..
  31. MOLECULAR AND CYTOGENETIC STUDIES OF HUMAN CELL AGING
    Olivia Pereira Smith; Fiscal Year: 1992
    ..b>Cytogenetic analysis combined with the use of restriction fragment length polymorphisms have allowed for the identification of ..
  32. BIOSYNTHESIS IN NORMAL AND VIRUS TRANSFORMED CELLS
    Fred Valentine; Fiscal Year: 1990
    ..5. The molecular and cytogenetic analysis of murine lymphomas induced by radiation and chemical carcinogens, with emphasis on the cellular oncogenes ..
  33. GENETICS OF THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME
    JAMES SKARE; Fiscal Year: 1992
    ..Blot hybridization coupled with a high-resolution cytogenetic analysis of 19 patients may reveal a boy who had XLP as the result of a deletion in the Xq26 vicinity...
  34. AKS IITM CYTOGENETIC ANALYSIS SYSTEM
    Robert Ferrell; Fiscal Year: 1991
    It is the specific aim of this proposal to establish a central facility for the cytogenetic analysis of normal and pathological specimens and cell lines derived from such samples as described in the research summaries of the major user ..
  35. MOLECULAR GENETICS OF BLADDER CANCER
    Timothy Ratliff; Fiscal Year: 1990
    ..be divided into 6 sessions including: Pathological Correlates with Biological Behavior of Bladder Cancer, Cytogenetic Analysis of DNA Alternations in Cancer, Allelic Loss in Cancer, Genetic Models and Cancer Progression, Molecular ..
  36. Molecular Stratification of Brain Tumors
    John Cowell; Fiscal Year: 2005
    ..What is clearly needed is a more objective way of stratifying brain tumor patients. Cytogenetic analysis of brain tumors has provided some clues as to the underlying genetic heterogeneity in brain tumors but the ..
  37. CYTOGENETIC ANALYSIS OF LAMPBRUSH CHROMOSOMES
    Nancy Hutchison; Fiscal Year: 1992
    ..Both scanning and transmission electron microscopy will also be used to examine the lampbrush loop organization, especially the loop/chromomere junction in greater detail...
  38. STUDIES OF HUMAN HEMATOPOIETIC AND CANCER CELLS
    George Moore; Fiscal Year: 1980
    ..Characterization of all the cell lines included cytogenetic analysis, growth in immunosuppressed mice, cytotoxicity assays, estrogen and progesterone receptor proteins, ..
  39. ImmunoResistant Brain Tumor Models
    CAROL KRUSE; Fiscal Year: 2004
    ..At the chromosomal level, cytogenetic analysis will help identify chromosomal alterations that are unique to ITR and parental gliomas...
  40. DNA PROBE ASSAY FOR THE PHILADELPHIA TRANSLOCATION
    John Stephenson; Fiscal Year: 1990
    ..Clinical evaluation of the assays, in comparison with cytogenetic analysis, will be completed...
  41. HEREDITARY AND INDUCED CANCER IN AN ANIMAL MODEL.
    Alfred Knudson; Fiscal Year: 1992
    ..be used will include matings with an unrelated inbred strain, irradiation, surgery, pathologic examination, cytogenetic analysis, and molecular genetic techniques...
  42. Cell Death and Clonal Survival in Myelodysplastic Syndr*
    H Deeg; Fiscal Year: 2008
    ..To achieve these objectives, we must better understand the underlying mechanisms of MDS and thereby identify ways by which the disease process can be arrested, progression prevented, and the disease hopefully be cured. ..
  43. WT1 Expression in Patients with MDS Treated with ATG an*
    H Deeg; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  44. Calorie Restriction Effects on Chromosomal Aberrations
    CHARLEEN MOORE; Fiscal Year: 2003
    ..The results will be essential in identifying potential mechanisms by which CR acts in cancer prevention and delay of the aging process in long-lived species such as the rhesus monkey and humans. ..
  45. NOVEL THERAPEUTIC STRATEGIES IN MYELODYSPLASTIC SYNDROME
    H Deeg; Fiscal Year: 2003
    ..Optimization of therapy, in turn, should reduce morbidity and mortality associated with MDS and improve the quality of life of patients with MDS. ..
  46. Bone Marrow Failure Scientific Symposium
    Jaroslaw Maciejewski; Fiscal Year: 2004
    ..The conference would conclude with a general forum to discuss lessons learned. Session abstracts and a conference summary would be distributed to attendees. A monograph would result from this event. ..
  47. TCR Diagnostics in LGL Leukemia and Immune Cytopenias
    Jaroslaw Maciejewski; Fiscal Year: 2009
    ..abstract_text> ..
  48. Predisposition to chromosomal alterations in MDS
    Jaroslaw Maciejewski; Fiscal Year: 2008
    ..abstract_text> ..
  49. Cell Sorting and Molecular Analysis for Minimal Disease Detection
    Barbara Zehentner; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  50. Molecular T Cell Repertoire in Aplastic Anemia
    Jaroslaw Maciejewski; Fiscal Year: 2007
    ..abstract_text> ..
  51. A PROGRAM OF RESEARCH IN POPULATION CYTOGENETICS
    Terry J Hassold; Fiscal Year: 2010
    ....
  52. MOLECULAR BASIS OF ROBERTSONIAN TRANSLOCATION FORMATION
    Lisa Shaffer; Fiscal Year: 2005
    ..abstract_text> ..
  53. Biology of Imatinib-Resistant Mutants of BCR-ABL
    Michael Deininger; Fiscal Year: 2009
    ..Such crucial proteins may then be exploited as drug targets for the treatment of chronic myeloid leukemia, and further, for other types of cancer. ..
  54. Gene Expression Phenotype in Autosomal Recessive Disease
    Vivian Cheung; Fiscal Year: 2007
    ..The approach can also be broadened to study the contribution of heterozygosity of recessive diseases to the complex genetic architecture of human diseases and traits. [unreadable] [unreadable]..