Search Results - "Bruyere, H"
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1
Leukocyte count as a predictor of death during remission induction in acute myeloid leukemia
Published in Leukemia & lymphoma (01-07-2006)“…Acute myeloid leukemia (AML) presenting with a high leukocyte count has been associated with an increase in induction mortality and poor results in a number of…”
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2
CCMG statement on direct-to-consumer genetic testing
Published in Clinical genetics (01-01-2012)Get full text
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3
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
Published in American journal of medical genetics. Part A (15-11-2006)“…Sensorineural hearing loss (SNHL) is the most common inherited sensory disorder, reported in 1–3 of every 1,000 births. It has been estimated that 50% of all…”
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4
Recurrent trisomy 21: four cases in three generations
Published in Clinical genetics (01-11-2005)“…While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has…”
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5
Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: Case report
Published in Human reproduction (Oxford) (01-11-2003)“…We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent…”
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6
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
Published in Clinical genetics (01-03-1999)“…The syndrome of infantile spasms, hypsarrhythmia, and mental retardation (West syndrome) is a classical form of epilepsy, occurring in early infancy, which is…”
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7
Fulminant tumour lysis syndrome in acute myelogenous leukaemia with inv(16)(p13;q22)
Published in European journal of haematology (01-10-2002)“…: Tumour lysis syndrome (TLS) is caused by rapid breakdown of malignant cells resulting in electrolyte disturbances and acute renal failure. TLS has rarely…”
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8
De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly
Published in Prenatal diagnosis (01-11-1996)Get full text
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9
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
Published in Prenatal diagnosis (01-04-2006)“…Objectives 1. To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the Y…”
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10
Cardioteratogenic dose of ethanol reduces both lactic dehydrogenase and succinic dehydrogenase activity in the bulbar ridges of the embryonic chick heart
Published in Journal of applied toxicology (01-01-1994)“…It has been established previously that the chick embryo is an appropriate model for studying the pathogenesis of ethanol-induced ventricular septal defect and…”
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11
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Published in Nature genetics (01-04-2002)“…Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily…”
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12
Cardioteratogenic dose of ethanol in the chick embryo results in egg white concentrations comparable to human blood alcohol levels
Published in Journal of applied toxicology (01-02-1990)“…Three-day-old chick embryos were exposed to a dose of ethyl alcohol (0.32 ml of 50% ethanol) that we previously demonstrated produces cardiac malformations in…”
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13
Short Report: Recurrent trisomy 21: four cases in three generations
Published in Clinical genetics (01-11-2005)“…While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has…”
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14
Cardioteratogenic dose of ethanol in the chick embryo results in albumin ethanol concentrations comparable to human blood alcohol levels
Published in Journal of applied toxicology (01-01-1994)“…Three-day-old chick embryos (Hamburger-Hamilton stages 18-19) were exposed to a dose of ethyl alcohol (0.32 ml of 50% ethanol) that causes cardiac…”
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15
Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier
Published in Fetal diagnosis and therapy (01-09-2004)“…To estimate the fetal risk of uniparental disomy (UPD) associated with the presence of a Robertsonian translocation (RT) in a parent or in the fetus, to…”
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16
Light- and electron-microscopic observations of theophylline-induced aortic aneurysms in embryonic chicks
Published in The American journal of pathology (01-09-1983)“…These investigators have previously developed a model for inducing aortic aneurysms by administering theophylline or caffeine to embryonic chicks. This report…”
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17
Potentiating effects of caffeine on the cardiovascular teratogenicity of ephedrine in chick embryos
Published in Toxicology letters (01-12-1985)“…Ephedrine was administered to 3-day chick embryos (Hamburger-Hamilton developmental stage 19) together with caffeine at doses where each agent alone caused…”
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18
Cardiovascular teratogenicity of ephedrine in chick embryos
Published in Toxicology letters (01-12-1985)“…The cardiovascular teratogenicity and embryotoxicity of ephedrine was studied in chick embryos treated after 2.5-6 days of incubation (Hamburger-Hamilton…”
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19
An interactive image processing system for the quantification of cardiac function in the embryonic chick
Published in Biomedical sciences instrumentation (1993)“…This paper describes an interactive computer-based method for quantifying embryonic chick heart blood pool volumes that have been recorded as digitized image…”
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20
The effects of cardioteratogenic doses of caffeine on cardiac function in the 3-day chick embryo
Published in Journal of applied toxicology (01-06-1987)“…The effects on embryonic cardiac function of caffeine administration (two non-cardioteratogenic and two cardioteratogenic doses) to Hamburger-Hamilton stage 19…”
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