Search Results - "Duncan, E. L."
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1
Glycaemic behaviour during breastfeeding in women with Type 1 diabetes
Published in Diabetic medicine (01-07-2016)“…Aim To describe glycaemia in both breastfeeding women and artificially feeding women with Type 1 diabetes, and the changes in glycaemia induced by suckling…”
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2
Zero-point entropy in stuffed spin-ice
Published in Nature physics (01-04-2006)“…The third law of thermodynamics dictates that the entropy of a system in thermal equilibrium goes to zero as its temperature approaches absolute zero. In ice,…”
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3
Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types
Published in Human molecular genetics (01-11-1997)“…Telomerase is a multicomponent reverse transcriptase enzyme that adds DNA repeats to the ends of chromosomes using its RNA component as a template for…”
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4
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
Published in Clinical genetics (01-12-2015)“…Short‐rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations…”
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5
Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
Published in Clinical genetics (01-07-2017)“…Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease‐mitochondrial RNA processing (RNase‐MRP) and RNase‐P (RMRP)…”
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6
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists
Published in Osteoporosis international (2012)“…Summary Bisphosphonates can increase bone mineral density (BMD) in children with osteogenesis imperfecta (OI). In this study of adults with OI type I,…”
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7
‘Sink or swim’: an evaluation of the clinical characteristics of individuals with high bone mass
Published in Osteoporosis international (01-02-2012)“…Summary High bone mineral density on routine dual energy X-ray absorptiometry (DXA) may indicate an underlying skeletal dysplasia. Two hundred fifty-eight…”
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8
Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’
Published in Molecular psychiatry (01-08-2014)Get full text
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9
Traits and Motives: Toward an Integration of Two Traditions in Personality Research
Published in Psychological review (01-04-1998)“…After reviewing classic and current conceptions of trait (as measured by questionnaires) and motive (as measured by the Thematic Apperception Test [TAT] or…”
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10
Does hypertension and its pharmacotherapy affect the quality of sexual function in women?
Published in American journal of hypertension (01-06-2000)“…Considerable research has been conducted into the effects of antihypertensive drugs on male sexual functioning. This remains underexplored in women, even…”
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11
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery
Published in Osteoporosis international (01-02-2014)“…In the last decade, huge breakthroughs in genetics—driven by new technology and different statistical approaches—have resulted in a plethora of new disease…”
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12
Letter to the Editor: Posttraumatic stress disorder has genetic overlap with cardiometabolic traits
Published in Psychological medicine (01-08-2017)Get more information
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13
Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis
Published in Journal of bone and mineral research (01-12-1999)“…We have investigated the role of 23 candidate genes in the control of bone mineral density (BMD) by linkage studies in families of probands with osteoporosis…”
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14
A brilliant breakthrough in OI type V
Published in Osteoporosis international (01-02-2014)“…Interferon-induced transmembrane protein 5 or bone-restricted i fitm -like gene ( Bril ) was first identified as a bone gene in 2008, although no in vivo role…”
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15
Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism
Published in Pediatric diabetes (01-06-2018)“…Background To assess the utility of whole‐exome sequencing (WES) for mutation detection in maturity‐onset diabetes of the young (MODY) and congenital…”
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16
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis
Published in Genes and immunity (01-01-2016)“…Acute anterior uveitis (AAU) involves inflammation of the iris and ciliary body of the eye. It occurs both in isolation and as a complication of ankylosing…”
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17
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
Published in Clinical genetics (01-07-2015)“…Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (BMD) and fibro‐osseous…”
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18
Malignant transformation of NIH3T3 cells by overexpression of mot-2 protein
Published in Oncogene (20-08-1998)“…The murine mortalin genes, mot-1 and mot-2, are members of the hsp70 family of proteins and differ from each other by only two amino acid residues. Mot-1 is…”
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19
Sex, drugs, and hypertension : a methodological approach for studying a sensitive subject
Published in International journal of impotence research (01-02-2001)“…Sexual dysfunction is a recognized side effect of hypertension and antihypertensive medications in men, but is not established as a side effect in women, due…”
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20
Stuffed rare earth pyrochlore solid solutions
Published in Journal of solid state chemistry (01-10-2006)“…Synthesis and crystal structures are described for the compounds Ln 2(Ti 2− xLn x )O 7− x /2, where Ln=Tb, Dy, Ho, Er, Tm, Yb, Lu, and x ranges from 0 to 0.67…”
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