Search Results - "HARVEY, J. F"
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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
Published in British journal of cancer (13-09-2004)“…Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences,…”
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2
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy
Published in American journal of medical genetics. Part A (01-02-2009)“…Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while…”
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3
Trisomy 18 : studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction
Published in American journal of human genetics (01-03-1995)“…We have studied the mechanism of origin of 63 cases of trisomy 18. In 2 the additional chromosome was paternal in origin, and in the remaining 61 it was…”
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4
A ray-tracing approach for indoor/outdoor propagation through window structures
Published in IEEE transactions on antennas and propagation (01-05-2002)“…A ray-tracing approach for indoor/outdoor propagation through windows is proposed. Using both the finite-difference time-domain (FDTD) method and a ray-tracing…”
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5
Microstructure of visibly luminescent porous silicon
Published in Applied physics letters (01-06-1992)“…The microstructure of luminescent porous silicon, formed by electrochemical etching of silicon wafers has been characterized by cross-sectional high-resolution…”
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6
Effects of five years of frequent N additions, with or without acidity, on the growth and below-ground dynamics of a young Sitka spruce stand growing on an acid peat: implications for sustainability
Published in Hydrology and earth system sciences (2004)“…A field manipulation study was established to demonstrate effects of simulated wet N and S deposition on a young (planted 1986) stand of Sitka spruce growing…”
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7
The anxiolytic-like activity of GR159897, a non-peptide NK2 receptor antagonist, in rodent and primate models of anxiety
Published in Psychopharmacologia (01-09-1995)“…The non-peptide NK2 receptor antagonist, GR159897, was evaluated in two putative models of anxiety, the mouse light-dark box and the marmoset human intruder…”
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8
Supernumerary marker 15 chromosomes : a clinical, molecular and FISH approach to diagnosis and prognosis
Published in Human genetics (01-02-1995)“…Seventeen patients presenting with either de novo or familial supernumerary marker (mar) 15 chromosomes were shown by fluorescent in situ hybridization…”
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9
Identification of false-positive CBFβ/MYH11 RT-PCR results
Published in Leukemia (01-10-1999)“…Persistent problems with false positive results were encountered when carrying out a published RT-PCR method to detect the CBFβ/MYH11 transcripts associated…”
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10
Fracture Tests on Bitumen Films
Published in Journal of materials in civil engineering (01-01-2005)“…This paper investigates the adhesive properties of bitumen films. Tensile tests on bitumen butt joints and double cantilever beam specimens, over a wide range…”
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11
Potential for ammonia recapture by farm woodlands: design and application of a new experimental facility
Published in TheScientificWorld (30-11-2001)“…There has been increasing pressure on farmers in Europe to reduce the emissions of ammonia from their land. Due to the current financial climate in which…”
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12
t(8;21) myelodysplasia, an early presentation of M2 AML
Published in British journal of haematology (01-04-1995)“…The reciprocal translocation of genetic material between chromosomes 8 and 21, t(8;21), is usually restricted to cases of acute myeloid leukaemia (AML). Cases…”
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13
Anxiolytic activity of tachykinin NK2 receptor antagonists in the mouse light-dark box
Published in European journal of pharmacology (21-12-1993)“…The tachykinin NK2 receptor antagonists, GR100679 (0.02-200 micrograms/kg s.c.) and (+/-)-SR489698 (0.05-5.0 micrograms/kg s.c.), dose-dependently increased…”
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14
Resonant-tunneling transmission-line relaxation oscillator
Published in Applied physics letters (26-05-1997)“…Experimental and numerical results are presented for a high-frequency oscillator consisting of a resonant-tunneling diode (RTD) series-embedded in a…”
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15
Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy
Published in Human genetics (1996)“…Dentatorubral and pallidolysian atrophy (DRPLA), a neurological disorder thought to be rare in European populations, is caused by a triplet repeat expansion in…”
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16
Throughfall Chemistry in a Sitka Spruce Plantation in Response to Six Different Simulated Polluted Mist Treatments
Published in Water, air, and soil pollution (01-08-2001)“…A mixed provenance Sitka spruce plantation, planted in 1986 on a drained deep peat, has been exposed to 6 different simulated mist treatments in 4 replicated…”
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17
A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant?
Published in American journal of human genetics (01-12-1999)“…Methylation analysis with probe PW71 ( D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome…”
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Effects of Simulated Acid Mist on a Sitka Spruce Forest Approaching Canopy Closure: Significance of Acidified Versus Non-Acidified Nitrogen Inputs
Published in Water, air, and soil pollution (01-08-2001)“…Effects of enhanced N, S and NS Acid additions, up to approximately 100 kg N and S ha^sup -1^ y^sup -1^, are described for a 15-year-old Sitka spruce forest…”
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19
High pressure optical investigation of porous silicon
Published in Applied physics letters (21-09-1992)“…We have performed the first photoluminescence (PL) measurements under hydrostatic pressure up to 37 kbar at room temperature on several porous silicon (Si)…”
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20
MEMS and Si micromachined circuits for high-frequency applications
Published in IEEE transactions on microwave theory and techniques (01-03-2002)“…RF micromachining and microelectromechanical structure (MEMS) technology promise to provide an innovative approach in the development of effective and low-cost…”
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