The Experts below are selected from a list of 32922 Experts worldwide ranked by ideXlab platform

Frederic M. Waldman - One of the best experts on this subject based on the ideXlab platform.

  • Renal Cell Carcinoma Genetic Analysis by Comparative Genomic Hybridization and Restriction Fragment Length Polymorphism Analysis
    The Journal of urology, 1996
    Co-Authors: Joseph C. Presti, Holger Moch, Victor E. Reuter, Carlos Cordon-cardo, Frederic M. Waldman
    Abstract:

    AbstractPurpose: To compare Comparative Genomic Hybridization (CGH) with restriction fragment length polymorphism (RFLP) analysis in renal cell carcinoma (RCC).Materials and Methods: Fifteen RCC specimens were analyzed by both CGH and RFLP analysis at 18 loci.Results: Restriction fragment length polymorphism analysis was informative on 90 chromosomal arms. Allelic imbalance was identified on 27 chromosomal arms by RFLP and on 26 arms by CGH. Data from CGH and RFLP demonstrated a high degree of concordance (p less than 0.001). Comparative Genomic Hybridization identified previously documented areas of interest in RCC as well as potential new areas of interest including loss of genetic material on chromosome 2 and gains of genetic material on chromosome 16p.Conclusions: Comparative Genomic Hybridization can successfully be performed in RCC As it surveys the entire genome simultaneously, it may be more efficient than conventional cytogenetics or RFLP analysis in analyzing RCC.

  • Comparative Genomic Hybridization for genetic analysis of renal oncocytomas.
    Genes chromosomes & cancer, 1996
    Co-Authors: Joseph C. Presti, Holger Moch, Victor E. Reuter, Danh Huynh, Frederic M. Waldman
    Abstract:

    Renal oncocytomas are uncommon tumors of the kidney that are considered to be of low malignant potential. Neither conventional cytogenetic nor restriction fragment length polymorphism analyses have identified consistent genetic alterations in their Genomic DNA. The purpose of the present study was to identify the genetic alterations associated with the development of renal oncocytomas. We studied 13 renal oncocytomas by using Comparative Genomic Hybridization, and we identified loss of genetic material from chromosomes 1 and/or 14 in six of these tumors. These alterations may represent early genetic events in the development of these tumors.

Tak Yeung Leung - One of the best experts on this subject based on the ideXlab platform.

Donna G Albertson - One of the best experts on this subject based on the ideXlab platform.

  • array Comparative Genomic Hybridization and its applications in cancer
    Nature Genetics, 2005
    Co-Authors: D Pinkel, Donna G Albertson
    Abstract:

    Alteration in DNA copy number is one of the many ways in which gene expression and function may be modified. Some variations are found among normal individuals, others occur in the course of normal processes in some species and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur before or shortly after fertilization, and DNA dosage-alteration changes occurring in somatic cells are frequent contributors to cancer. Detecting these aberrations and interpreting them in the context of broader knowledge facilitates the identification of crucial genes and pathways involved in biological processes and disease. Over the past several years, array Comparative Genomic Hybridization has proven its value for analyzing DNA copy-number variations. Here, we discuss the state of the art of array Comparative Genomic Hybridization and its applications in cancer, emphasizing general concepts rather than specific results.

  • Comparative Genomic Hybridization.
    Annual review of genomics and human genetics, 2005
    Co-Authors: D Pinkel, Donna G Albertson
    Abstract:

    Altering DNA copy number is one of the many ways that gene expression and function may be modified. Some variations are found among normal individuals ( 14, 35, 103 ), others occur in the course of normal processes in some species ( 33 ), and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur prior to or shortly after fertilization, whereas DNA dosage alterations that occur in somatic cells are frequent contributors to cancer. Detecting these aberrations, and interpreting them within the context of broader knowledge, facilitates identification of critical genes and pathways involved in biological processes and diseases, and provides clinically relevant information. Over the past several years array Comparative Genomic Hybridization (array CGH) has demonstrated its value for analyzing DNA copy number variations. In this review we discuss the state of the art of array CGH and its applications in medical genetics and cancer, emphasizing general concepts rather than specific results.

  • Measurement of DNA sequence copy number variation using Comparative Genomic Hybridization to microarrays
    Nature Genetics, 1999
    Co-Authors: Donna G Albertson, Rick Segraves, Bing Huey, Xiaosong Zhang, J. Palmer, Stephanie Blackwood, Antoine M. Snijders, Gregory L. Hamilton, Britt-marie Ljung, Shanaz H. Dairkee
    Abstract:

    Measurement of DNA sequence copy number variation using Comparative Genomic Hybridization to microarrays

Kwong Wai Choy - One of the best experts on this subject based on the ideXlab platform.

  • Current limitations and difficulties in application of microarray Comparative Genomic Hybridization in prenatal diagnosis
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
    Co-Authors: Ying Chen, Kwong Wai Choy
    Abstract:

    Subchromosomal abnormalities can be positioned by the detection of copy number variation (CNV) using microarray Comparative Genomic Hybridization (aCGH). aCGH has become a powerful tool in understanding the association between gene and genetic etiology in both research and clinical laboratories.Meanwhile as a new technique, controversies inevitably arose in its clinical application. As for the phenotype of CNV, little has been disclosed. For the clinicians, the difficulty in explanation of the CNV to the patients is obvious, which makes many doctors refuse to use aCGH for clinical diagnosis. Customized arrays have been exploited to decrease the uncertainty and efforts to search for a balance between overloaded information and insufficient information have been made. The purpose of this review is to discuss the current limitations and difficulties on application of aCGH in prenatal diagnosis and its application prospect from the point of a clinician. Key words: microarray Comparative Genomic Hybridization;  prenatal gene diagnosis;  copy number variation;  genetic counseling

  • Second-trimester detection of Mowat-Wilson syndrome using Comparative Genomic Hybridization microarray testing.
    Obstetrics & Gynecology, 2010
    Co-Authors: Kwong Wai Choy, Anthony W.h. Chan, Tze Kin Lau, Tak Yeung Leung
    Abstract:

    BACKGROUND:Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray Comparative Genomic Hybridization (array Comparative Genomic Hybridization) may help prenatal diagnosis by revea

  • Second-trimester detection of Mowat-Wilson syndrome using Comparative Genomic Hybridization microarray testing.
    Obstetrics and gynecology, 2010
    Co-Authors: Kwong Wai Choy, Anthony W.h. Chan, Tze Kin Lau, Tak Yeung Leung
    Abstract:

    Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray Comparative Genomic Hybridization (array Comparative Genomic Hybridization) may help prenatal diagnosis by revealing small genetic defects. A patient presented with a fetus with large nuchal translucency and ambiguous genitalia at 13 weeks of gestation. Conventional fetal karyotype by chorionic villus sampling was 46,XY,inv (1)(p31q42). The inversion was de novo. Further analysis by array Comparative Genomic Hybridization revealed a single-copy ZEB2 gene deletion at 2q22.3 consistent with Mowat-Wilson syndrome. Ultrasonography at 17 weeks revealed a reduced nuchal fold of 5 mm. The patient decided to terminate the pregnancy, which was completed uneventfully at 17 weeks of gestation. Array Comparative Genomic Hybridization is a useful complementary diagnostic tool in fetuses with increased nuchal translucency but apparently normal karyotypes.

J W Gray - One of the best experts on this subject based on the ideXlab platform.

  • Comparative Genomic Hybridization.
    Current protocols in human genetics, 2001
    Co-Authors: S Devries, J W Gray, D Pinkel, F M Waldman, D Sudar
    Abstract:

    Comparative Genomic Hybridization (CGH) is a powerful molecular cytogenetic technique that permits assessment of DNA copy number on a genome-wide scale. Of note, this methodology uses tumor DNA as a probe for fluorescence in situ Hybridization (FISH) to normal metaphase chromosomes and does not require dividing cells from the tumor specimen. This unit provides protocols for CGH, for preparation of metaphase chromosomes, tumor and normal DNAs for FISH and for the microscopy and image analysis of CGH experiments.

  • 30 – Comparative Genomic Hybridization
    PCR Applications, 1999
    Co-Authors: Koei Chin, J W Gray
    Abstract:

    Publisher Summary This chapter discusses Comparative Genomic Hybridization (CGH) in detail. CGH is a "genome scanning" technique that allows entire test genomes to be analyzed for changes in relative deoxyribonucleic acid (DNA) sequence copy number. In CGH, total genome DNA from a test sample and from a reference sample (typically normal Genomic DNA) are labeled independently with different fluorochromes and cohybridized to normal chromosome preparations. CGH Hybridizations are usually analyzed using digital imaging microscopy. The chapter discusses the advantages of using CGH. It maps changes in copy number in complex genomes onto normal metaphase chromosomes so they can be easily related to physical maps and/or physically mapped genes. Also, it employs Genomic DNA so that cell culture is not required. As a result, CGH has proven especially useful for analysis of genetic changes in solid tumors, physical deletions, homogeneously staining regions, and double-minute chromosomes of unknown origin. In addition, it has proven useful for detection of segmentalaneusomies during pre or neonatal diagnosis. Finally, a complete protocol is outlined for CGH in this chapter.

  • Comparative Genomic Hybridization in the Detection of DNA Copy Number Abnormalities in Uveal Melanoma
    Cancer research, 1994
    Co-Authors: Kathleen B. Gordon, Curtis Thompson, Devron H. Char, Joan M. O'brien, Stewart Kroll, Siavash Ghazvini, J W Gray
    Abstract:

    Genomic instability appears to play an important role in the development, growth, invasiveness, and eventual metastasis of the neoplastic cell. We have used a powerful new technique, Comparative Genomic Hybridization, to evaluate genetic alterations in 10 fresh frozen uveal melanomas. Comparative Genomic Hybridization utilizes dual fluorescence in situ Hybridization to characterize chromosome deletions and duplications, allowing for simultaneous evaluation of the entire human genome. Several consistent chromosomal abnormalities were detected. This study confirmed previous findings obtained using standard cytogenetic techniques but demonstrated an increased incidence in abnormalities of chromosomes 3 and 8; there was loss of chromosome 3 and duplication of 8q. In addition, we identified, although less frequently, other recurrent abnormal regions including alterations on chromosomes 6p, 7q, 9p, and 13q.