Search Results - "Jacky, Peter B."
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Guidance for Fluorescence in Situ Hybridization Testing in Hematologic Disorders
Published in The Journal of molecular diagnostics : JMD (01-04-2007)“…Fluorescence in situ hybridization (FISH) provides an important adjunct to conventional cytogenetics and molecular studies in the evaluation of chromosome…”
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Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities
Published in Genetics in medicine (01-12-2009)“…Purpose: Cytogenetic analysis of tumor tissue detects clonal abnormalities. The information obtained from these studies is utilized for diagnosis, prognosis,…”
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Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation
Published in Human molecular genetics (01-11-1999)“…The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The…”
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Section E6 of the ACMG technical standards and guidelines: chromosome studies for acquired abnormalities
Published in Genetics in medicine (01-09-2005)“…Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality…”
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The giemsa banding pattern of canine chromosomes, using a cell synchronization technique
Published in Genome (01-06-1991)“…Cytogenetic investigations of the domestic dog, Canis familiaris, were performed on the Doberman pinscher and two Boxer dogs. Conventional homogeneously…”
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Fragile Sites in Chromosomes: Possible Model for the Study of Spontaneous Chromosome Breakage
Published in Science (American Association for the Advancement of Science) (01-04-1983)“…The tissue culture condition that is required for the type of chromosome breakage seen at most fragile sites, namely, the absence of folic acid and thymidine…”
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A novel Robertsonian translocation in a family of Walker hounds
Published in Genome (01-08-1991)“…A 5-year-old female Walker hound was presented to the Washington State University Veterinary Teaching Hospital as a result of a narrowing of the vulva, which…”
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Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalitie: This updated Section E6 has been incorporated into Section E: Clinical Cytogenetics of the 2005 ACMG Standards and Guidelines for Clinical Genetics Laboratories and supersedes the previous section E6
Published in Genetics in medicine (01-09-2005)“…Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality…”
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Guidelines for the diagnosis of fragile X syndrome
Published in Journal of medical genetics (1993)“…Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG…”
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Hypomethylation of an Expanded FMR1 Allele Is Not Associated with a Global DNA Methylation Defect
Published in American journal of human genetics (01-11-1999)“…The vast majority of fragile-X full mutations are heavily methylated throughout the expanded CGG repeat and the surrounding CpG island. Hypermethylation…”
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Fully Expanded FMR1CGG Repeats Exhibit a Length-and Differentiation-Dependent Instability in Cell Hybrids That is Independent of DNA Methylation
Published in Human molecular genetics (01-11-1999)“…The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The…”
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FMC-HU-1-B: a lymphoma B-cell line with unusual characteristics
Published in Leukemia research (1985)“…A cell line (FMC-Hu-1-B) was established from a biopsy of an abdominal mass of a child with non-Burkitt's lymphoma. The establishment of the cell line…”
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Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2
Published in American journal of medical genetics (16-06-1998)“…We present clinical outcome, through several years of follow‐up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of…”
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Cytogenetic evaluation of four canine mast cell tumors
Published in Cancer genetics and cytogenetics (01-05-1991)“…We evaluated four canine cutaneous mast cell tumors cytogenetically. All four tumors contained both hypodiploid and hyperdiploid cells, an increase in the…”
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The fragile X chromosome: current methods
Published in American journal of medical genetics (01-04-1982)Get more information
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