Search Results - "WOODAGE, T"
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The APC I1307K allele and breast cancer risk
Published in Nature genetics (01-09-1998)“…The I1307K variant of APC occurs in approximately 6% of Ashkenazi Jews and has been associated with familial colorectal neoplasia. In four of the eight…”
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2
Bloom syndrome and maternal uniparental disomy for chromosome 15
Published in American journal of human genetics (01-07-1994)“…Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of…”
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3
Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes
Published in Archives of disease in childhood (01-05-1995)“…Eighty seven referrals with Prader-Willi syndrome and 49 with Angelman's syndrome were studied. High resolution cytogenetics was performed on all probands…”
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4
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
Published in Human genetics (01-04-1994)“…A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15, +der(8),t(8;15)(p23.3;q11)pat, was evaluated with DNA…”
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5
Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)
Published in Nucleic acids research (11-10-1991)Get full text
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6
Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome
Published in Clinical genetics (01-01-1993)“…A patient with classical Prader-Willi syndrome was found to have a Robertsonian translocation 45,XY,t(13q15q)mat. On CBG banding, the translocation chromosome…”
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7
Characterization of the CHD Family of Proteins
Published in Proceedings of the National Academy of Sciences - PNAS (14-10-1997)“…The murine gene CHD1 (MmCHD1) was previously isolated in a search for proteins that bound a DNA promoter element. The presence of chromo (chromatin…”
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8
Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13
Published in Genomics (San Diego, Calif.) (01-01-1994)“…The Angelman syndrome (AS) and Prader-Willi syndrome (PWS) loci have been mapped to chromosome 15q11-q13. Chromosomal deletions of differing parental origin in…”
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9
Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome
Published in Medical journal of Australia (21-06-1993)“…To characterise the molecular abnormalities present in a cohort of patients with the Angelman syndrome. DNA samples from 10 patients with the Angelman syndrome…”
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10
Use of wrapper algorithms coupled with a random forests classifier for variable selection in large-scale genomic association studies
Published in Journal of computational biology (01-12-2009)“…Modern large-scale genetic association studies generate increasingly high-dimensional datasets. Therefore, some variable selection procedure should be…”
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11
Evolution of the avian sex chromosomes from an ancestral pair of autosomes
Published in Proceedings of the National Academy of Sciences - PNAS (07-07-1998)“…Among the mechanisms whereby sex is determined in animals, chromosomal sex determination is found in a wide variety of distant taxa. The widespread but not…”
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12
The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews
Published in Nature genetics (01-09-1998)“…Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple…”
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13
Polymorphisms and Haplotypes in the Cytochrome P450 17A1, Prolactin, and Catechol-O-Methyltransferase Genes and Non-Hodgkin Lymphoma Risk
Published in Cancer epidemiology, biomarkers & prevention (01-10-2005)“…Expression of prolactin and of prolactin and estrogen receptors in lymphocytes, bone marrow, and lymphoma cell lines suggests that hormonal modulation may…”
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The pharmacokinetics and acceptability of benoxaprofen following rectal administration
Published in Journal of rheumatology. Supplement (1980)“…The bioavailability of a single 300 mg dose of benoxaprofen was compared after rectal and oral administration in 5 subjects. The total absorption rectally from…”
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The human genome and comparative genomics: understanding human evolution, biology, and medicine
Published in Journal of gastroenterology (01-03-2003)“…The entire 2.9-billion-letter sequence (nucleotide base pairs) of the human genome is available as a resource for scientific discovery. Some of the findings…”
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16
The metabolism of isamoxole in the rat and guinea-pig
Published in Xenobiotica (01-01-1979)“…1. The absorption, metabolism and excretion of isamoxole, (2-methyl-N-butyl-N-(4-methyloxazol-2-yl)propanamide), a compound with anti-allergy properties, has…”
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A variety of genetic mechanisms are associated with the Prader-Willi syndrome
Published in American journal of medical genetics (15-09-1994)“…An extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader-Willi chromosome region (PWCR) of…”
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The effect of penicillamine in the treatment of experimental schistosomiasis with tartar emetic
Published in Annals of tropical medicine and parasitology (01-06-1971)Get more information
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Determination of benoxaprofen [2-(4-chlorophenyl)-alpha-methyl-5-benzoxazoleacetic acid, LRCL 3794] in biological fluids
Published in Journal of chromatography (01-06-1978)“…Benoxaprofen, a novel anti-inflammatory compound, is efficiently (greater than 95%) extracted from plasma and urine in the pH range 1 to 5 into either…”
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Application of the Human Genome to Obstetrics and Gynecology
Published in Clinical obstetrics and gynecology (01-09-2002)Get full text
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