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1.	Aamodt, K., et al. (författare) Alignment of the ALICE Inner Tracking System with cosmic-ray tracks 2010 Ingår i: Journal of Instrumentation. - 1748-0221. ; 5 Konferensbidrag (refereegranskat)abstract ALICE (A Large Ion Collider Experiment) is the LHC (Large Hadron Collider) experiment devoted to investigating the strongly interacting matter created in nucleus-nucleus collisions at the LHC energies. The ALICE ITS, Inner Tracking System, consists of six cylindrical layers of silicon detectors with three different technologies; in the outward direction: two layers of pixel detectors, two layers each of drift, and strip detectors. The number of parameters to be determined in the spatial alignment of the 2198 sensor modules of the ITS is about 13,000. The target alignment precision is well below 10 mu m in some cases (pixels). The sources of alignment information include survey measurements, and the reconstructed tracks from cosmic rays and from proton-proton collisions. The main track-based alignment method uses the Millepede global approach. An iterative local method was developed and used as well. We present the results obtained for the ITS alignment using about 10(5) charged tracks from cosmic rays that have been collected during summer 2008, with the ALICE solenoidal magnet switched off.
2.	Aamodt, K., et al. (författare) First proton-proton collisions at the LHC as observed with the ALICE detector: measurement of the charged-particle pseudorapidity density at root s=900 GeV 2010 Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 65:1-2, s. 111-125 Tidskriftsartikel (refereegranskat)abstract On 23rd November 2009, during the early commissioning of the CERN Large Hadron Collider (LHC), two counter-rotating proton bunches were circulated for the first time concurrently in the machine, at the LHC injection energy of 450 GeV per beam. Although the proton intensity was very low, with only one pilot bunch per beam, and no systematic attempt was made to optimize the collision optics, all LHC experiments reported a number of collision candidates. In the ALICE experiment, the collision region was centred very well in both the longitudinal and transverse directions and 284 events were recorded in coincidence with the two passing proton bunches. The events were immediately reconstructed and analyzed both online and offline. We have used these events to measure the pseudorapidity density of charged primary particles in the central region. In the range vertical bar eta vertical bar < 0.5, we obtain dN(ch)/d eta = 3.10 +/- 0.13(stat.) +/- 0.22(syst.) for all inelastic interactions, and dN(ch)/d eta = 3.51 +/- 0.15(stat.) +/- 0.25(syst.) for nonsingle diffractive interactions. These results are consistent with previous measurements in proton-antiproton interactions at the same centre-of-mass energy at the CERN Sp<(p)over bar>S collider. They also illustrate the excellent functioning and rapid progress of the LHC accelerator, and of both the hardware and software of the ALICE experiment, in this early start-up phase.
3.	Aamodt, K., et al. (författare) Midrapidity Antiproton-to-Proton Ratio in pp Collisons root s=0.9 and 7 TeV Measured by the ALICE Experiment 2010 Ingår i: Physical Review Letters. - 1079-7114. ; 105:7 Tidskriftsartikel (refereegranskat)abstract The ratio of the yields of antiprotons to protons in pp collisions has been measured by the ALICE experiment at root s = 0.9 and 7 TeV during the initial running periods of the Large Hadron Collider. The measurement covers the transverse momentum interval 0.45 < p(t) < 1.05 GeV/c and rapidity vertical bar y vertical bar < 0.5. The ratio is measured to be R-vertical bar y vertical bar<0.5 = 0.957 +/- 0.006(stat) +/- 0.0014(syst) at 0.9 Tev and R-vertical bar y vertical bar<0.5 = 0.991 +/- 0.005 +/- 0.014(syst) at 7 TeV and it is independent of both rapidity and transverse momentum. The results are consistent with the conventional model of baryon-number transport and set stringent limits on any additional contributions to baryon-number transfer over very large rapidity intervals in pp collisions.
4.	Aamodt, K., et al. (författare) Production of pions, kaons and protons in pp collisions at root s=900 GeV with ALICE at the LHC 2011 Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 71:6 Tidskriftsartikel (refereegranskat)abstract The production of pi(+), pi(-), K+, K-, p, and (p) over bar at mid-rapidity has been measured in proton-proton collisions at root s = 900 GeV with the ALICE detector. Particle identification is performed using the specific energy loss in the inner tracking silicon detector and the time projection chamber. In addition, time-of-flight information is used to identify hadrons at higher momenta. Finally, the distinctive kink topology of the weak decay of charged kaons is used for an alternative measurement of the kaon transverse momentum (p(t)) spectra. Since these various particle identification tools give the best separation capabilities over different momentum ranges, the results are combined to extract spectra from p(t) = 100 MeV/c to 2.5 GeV/c. The measured spectra are further compared with QCD-inspired models which yield a poor description. The total yields and the mean pt are compared with previous measurements, and the trends as a function of collision energy are discussed.
5.	Aamodt, K., et al. (författare) Two-pion Bose-Einstein correlations in pp collisions at root s=900 GeV 2010 Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 82:5 Tidskriftsartikel (refereegranskat)abstract We report on the measurement of two-pion correlation functions from pp collisions at root s = 900 GeV performed by the ALICE experiment at the Large Hadron Collider. Our analysis shows an increase of the Hanbury Brown-Twiss radius with increasing event multiplicity, in line with other measurements done in particle- and nuclear collisions. Conversely, the strong decrease of the radius with increasing transverse momentum, as observed at the Relativistic Heavy Ion Collider and at Tevatron, is not manifest in our data.
6.	Aamodt, K., et al. (författare) Charged-particle multiplicity measurement in proton-proton collisions at root s=0.9 and 2.36 TeV with ALICE at LHC 2010 Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 68:1-2, s. 89-108 Tidskriftsartikel (refereegranskat)abstract Charged-particle production was studied in proton-proton collisions collected at the LHC with the ALICE detector at centre-of-mass energies 0.9 TeV and 2.36 TeV in the pseudorapidity range vertical bar eta vertical bar < 1.4. In the central region (vertical bar eta vertical bar < 0.5), at 0.9 TeV, we measure charged-particle pseudo-rapidity density dN(ch)/d eta = 3.02 +/- 0.01(stat.)(-0.05)(+0.08)(syst.) for inelastic interactions, and dN(ch)/d eta = 3.58 +/- 0.01 (stat.)(-0.12)(+0.12)(syst.) for non-single-diffractive interactions. At 2.36 TeV, we find dN(ch)/d eta = 3.77 +/- 0.01(stat.)(-0.12)(+0.25)(syst.) for inelastic, and dN(ch)/d eta = 4.43 +/- 0.01(stat.)(-0.12)(+0.17)(syst.) for non-single-diffractive collisions. The relative increase in charged-particle multiplicity from the lower to higher energy is 24.7% +/- 0.5%(stat.)(-2.8)(+5.7)%(syst.) for inelastic and 23.7% +/- 0.5%(stat.)(-1.1)(+4.6)%(syst.) for non-single-diffractive interactions. This increase is consistent with that reported by the CMS collaboration for non-single-diffractive events and larger than that found by a number of commonly used models. The multiplicity distribution was measured in different pseudorapidity intervals and studied in terms of KNO variables at both energies. The results are compared to proton-antiproton data and to model predictions.
7.	Aamodt, K., et al. (författare) Charged-particle multiplicity measurement in proton-proton collisions at root s=7 TeV with ALICE at LHC 2010 Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 68:3-4, s. 345-354 Tidskriftsartikel (refereegranskat)abstract The pseudorapidity density and multiplicity distribution of charged particles produced in proton-proton collisions at the LHC, at a centre-of-mass energy root s = 7 TeV, were measured in the central pseudorapidity region vertical bar eta vertical bar < 1. Comparisons are made with previous measurements at root s = 0.9 TeV and 2.36 TeV. At root s = 7 TeV, for events with at least one charged particle in \|eta vertical bar\| < 1, we obtain dN(ch)/d eta = 6.01 +/- 0.01(stat.)(-0.12)(+0.20) (syst.). This corresponds to an increase of 57.6%+/-0.4%(stat.)(-1.8%)(+3.6) (syst.) relative to collisions at 0.9 TeV, significantly higher than calculations from commonly used models. The multiplicity distribution at 7 TeV is described fairly well by the negative binomial distribution.
8.	Aamodt, K., et al. (författare) Transverse momentum spectra of charged particles in proton-proton collisions at root s=900 GeV with ALICE at the LHC 2010 Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 693:2, s. 53-68 Tidskriftsartikel (refereegranskat)abstract The inclusive charged particle transverse momentum distribution is measured in proton-proton collisions at root s = 900 GeV at the LHC using the ALICE detector. The measurement is performed in the central pseudorapidity region (vertical bar eta vertical bar < 0.8) over the transverse momentum range 0.15 < p(T) < 10 GeV/c. The correlation between transverse momentum and particle multiplicity is also studied. Results are presented for inelastic (INEL) and non-single-diffractive (NSD) events. The average transverse momentum for vertical bar eta vertical bar < 0.8 is < p(T)>(INEL) = 0.483 +/- 0.001 (stat.) +/- 0.007 (syst.) GeV/c and < p(T)>(NSD) = 0.489 +/- 0.001 (stat.) +/- 0.007 (syst.) GeV/c, respectively. The data exhibit a slightly larger < p(T)> than measurements in wider pseudorapidity intervals. The results are compared to simulations with the Monte Carlo event generators PYTHIA and PHOJET. (C) 2010 Published by Elsevier B.V.
9.	Figlioli, G, et al. (författare) The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer 2019 Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38- Tidskriftsartikel (refereegranskat)abstract Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658, p.Gln1701, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
10.	Milne, RL, et al. (författare) Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer 2017 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:12, s. 1767-1778 Tidskriftsartikel (refereegranskat)
11.	Bancroft, EK, et al. (författare) Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations 2019 Ingår i: BJU international. - : Wiley. - 1464-410X .- 1464-4096. ; 123:2, s. 284-292 Tidskriftsartikel (refereegranskat)
12.	Iso, H, et al. (författare) Collaborative overview ('meta-analysis') of prospective observational studies of the associations of usual blood pressure and usual cholesterol levels with common causes of death: protocol for the second cycle of the Prospective Studies Collaboration 1999 Ingår i: Journal of cardiovascular risk. - : Oxford University Press (OUP). - 1350-6277 .- 1741-8267 .- 1741-8275. ; 6:5, s. 315-320 Tidskriftsartikel (refereegranskat)
13.	Bancroft, EK, et al. (författare) Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study 2014 Ingår i: European urology. - : Elsevier BV. - 1873-7560 .- 0302-2838. ; 66:3, s. 489-499 Tidskriftsartikel (refereegranskat)
14.	Whitlock, G, et al. (författare) Body-mass index and cause-specific mortality in 900 000 adults: collaborative analyses of 57 prospective studies 2009 Ingår i: Lancet (London, England). - 1474-547X. ; 373:9669, s. 1083-1096 Tidskriftsartikel (refereegranskat)
15.	Ferreira, MA, et al. (författare) Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer 2019 Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741- Tidskriftsartikel (refereegranskat)abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
16.	Alexander, SPH, et al. (författare) THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: G protein-coupled receptors 2019 Ingår i: British journal of pharmacology. - : Wiley. - 1476-5381 .- 0007-1188. ; 176176 Suppl 1, s. S21-S141 Tidskriftsartikel (refereegranskat)
17.	Phelan, CM, et al. (författare) Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer 2017 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:5, s. 680-691 Tidskriftsartikel (refereegranskat)
18.	Acuna-Hidalgo, R, et al. (författare) Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway 2014 Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 95:3, s. 285-293 Tidskriftsartikel (refereegranskat)
19.	Bansal, Sheel, et al. (författare) Practical Guide to Measuring Wetland Carbon Pools and Fluxes 2023 Ingår i: Wetlands (Wilmington, N.C.). - : SPRINGER. - 0277-5212 .- 1943-6246. ; 43:8 Forskningsöversikt (refereegranskat)abstract Wetlands cover a small portion of the world, but have disproportionate influence on global carbon (C) sequestration, carbon dioxide and methane emissions, and aquatic C fluxes. However, the underlying biogeochemical processes that affect wetland C pools and fluxes are complex and dynamic, making measurements of wetland C challenging. Over decades of research, many observational, experimental, and analytical approaches have been developed to understand and quantify pools and fluxes of wetland C. Sampling approaches range in their representation of wetland C from short to long timeframes and local to landscape spatial scales. This review summarizes common and cutting-edge methodological approaches for quantifying wetland C pools and fluxes. We first define each of the major C pools and fluxes and provide rationale for their importance to wetland C dynamics. For each approach, we clarify what component of wetland C is measured and its spatial and temporal representativeness and constraints. We describe practical considerations for each approach, such as where and when an approach is typically used, who can conduct the measurements (expertise, training requirements), and how approaches are conducted, including considerations on equipment complexity and costs. Finally, we review key covariates and ancillary measurements that enhance the interpretation of findings and facilitate model development. The protocols that we describe to measure soil, water, vegetation, and gases are also relevant for related disciplines such as ecology. Improved quality and consistency of data collection and reporting across studies will help reduce global uncertainties and develop management strategies to use wetlands as nature-based climate solutions.
20.	Brennan, Donal, et al. (författare) The transcription factor Sox11 is a prognostic factor for improved recurrence-free survival in epithelial ovarian cancer 2009 Ingår i: European Journal of Cancer. - : Elsevier BV. - 1879-0852 .- 0959-8049. ; 45:8, s. 1510-1517 Tidskriftsartikel (refereegranskat)abstract Abstract Background: Current prognostic molecular markers for epithelial ovarian cancer (EOC) are insufficient. The aim of the current study was to investigate the role of Sox11 in EOC Methods: Using an in silico transcriptomic screen Sox11 was identified as a potential EOC biomarker. Sox11 protein expression was evaluated using immunohistochemistry (IHC) in 76 EOC cases, which were analyzed using automated algorithms to develop a quantitative scoring model. Results: Sox11 mRNA expression was up-regulated in EOC compared to normal tissues. Automated analysis of Sox11 in the EOC cohort revealed high expression of Sox11, in 40% of tumours, who had an improved recurrence free survival (RFS) (p= 0.002). Multivariate analysis confirmed Sox11 was an independent predictor of improved RFS after controlling for stage and grade. Conclusions: These data suggest that Sox11 is a new prognostic marker in EOC. Loss of SOX 11 is associated with a decreased RFS and a more aggressive phenotype.
21.	Burgos, CM, et al. (författare) Differences in Outcomes in Prenatally Diagnosed Congenital Diaphragmatic Hernia Compared to Postnatal Detection: A Single-Center Experience 2016 Ingår i: Fetal diagnosis and therapy. - : S. Karger AG. - 1421-9964 .- 1015-3837. ; 39:4, s. 241-247 Tidskriftsartikel (refereegranskat)abstract <b><i>Objectives: </i></b>To compare outcomes in pregnancies with a prenatal detection of congenital diaphragmatic hernia (CDH) with children diagnosed after birth, treated at the same institution, and to determine the ability to predict prognosis through measurements of the observed to expected lung-to-head ratio (O/E LHR). <b><i>Methods:</i></b> This is a retrospective review of all children with CDH treated at our institution during 2006-2014. We compared outcomes of infants referred for surgery after postnatal diagnosis with outcomes of infants with prenatally diagnosed CDH. <b><i>Results:</i></b> In the prenatal group, O/E LHR was significantly different between survivors and deceased patients, with a cutoff at 35% O/E LHR. Survival to discharge and 1-year survival were significantly higher in the postnatal group that required intubation within 24 h; i.e., 92 and 89% versus 85 and 73% in the prenatal group (p < 0.05). There was less need for extracorporeal membrane oxygenation (ECMO), 41 versus 60%, and patch, 41 versus 75% (p < 0.001), in the postnatal group with early diagnosis compared with the prenatal group, respectively. <b><i>Conclusion: </i></b>Children with prenatally diagnosed CDH represent a population with a more severe condition compared to infants diagnosed after birth. They have poorer outcomes with higher needs for ECMO or use of patch, and lower survival rates were observed at an O/E LHR below 35%.
22.	Burgos, CM, et al. (författare) European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis 2024 Ingår i: Orphanet journal of rare diseases. - 1750-1172. ; 19:1, s. 60- Tidskriftsartikel (refereegranskat)
23.	Burgos, CM, et al. (författare) Hydrops and congenital diaphragmatic hernia: reported incidence and postnatal outcomes. Analysis of the congenital diaphragmatic hernia study group registry 2024 Ingår i: Journal of perinatology : official journal of the California Perinatal Association. - 1476-5543. Tidskriftsartikel (refereegranskat)
24.	Burgos, CM, et al. (författare) Maternal Risk Factors and Perinatal Characteristics in Congenital Diaphragmatic Hernia: A Nationwide Population-Based Study 2019 Ingår i: Fetal diagnosis and therapy. - : S. Karger AG. - 1421-9964 .- 1015-3837. ; 46:6, s. 385-391 Tidskriftsartikel (refereegranskat)abstract <b><i>Background:</i></b> The etiology of congenital diaphragmatic hernia (CDH) remains poorly understood. We hypothesize that environmental factors play an important role in the development of CDH. <b><i>Aim:</i></b> The objective of this study was to investigate associated maternal risk factors in pregnancies with CDH. <b><i>Material and Methods:</i></b> The study was a nationwide, population-based prospective case-control study consisting of a cohort of newborn children entered into the records of pregnant women receiving antenatal care in Sweden, registered in the Medical Birth Registry during the period from January 1, 1982 to December 31, 2015. The study outcome CDH and the different exposures were assessed through linkage to the Swedish National Patient Registry for both cases and mothers. <b><i>Results:</i></b> A total of 972 cases of CDH were registered into one of the national registries in Sweden between 1982 and 2015. The incidence of neonates with CDH in Sweden from 1982 to 2015 was 3/10,000 live births. The mortality rate during the study period was 31%. Maternal age, ethnicity, parity, exposure to tobacco, BMI, IVF, previous history of spontaneous abortion or intrauterine fetal demise, and coexisting chronic diseases (urinary tract infection, chronic renal disease, pregestational diabetes, epilepsy, asthma, ulcerative colitis, inflammatory bowel disease, or systemic lupus erythematous) were not associated with an increased risk of CDH in the fetus. There was a significant association between maternal hypertension and the risk of the child being affected by CDH (OR 3.32, 95% CI 1.41–7.79, <i>p</i> = 0.01). No association was found between preeclampsia and CDH. <b><i>Conclusions:</i></b> Pregestational hypertension is associated with an increased risk of giving birth to a baby with CDH, but no association was observed in pregnancies developing preeclampsia and the occurrence of CDH.
25.	Burgos, CM, et al. (författare) Outcomes in infants with prenatally diagnosed gastroschisis and planned preterm delivery 2015 Ingår i: Pediatric surgery international. - : Springer Science and Business Media LLC. - 1437-9813 .- 0179-0358. ; 31:11, s. 1047-1053 Tidskriftsartikel (refereegranskat)
26.	Burgos, CM, et al. (författare) Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry 2023 Ingår i: Prenatal diagnosis. - 1097-0223. ; 43:10, s. 1265-1273 Tidskriftsartikel (refereegranskat)
27.	Chen, Mei-Ling, et al. (författare) Challenges and opportunities in establishing scientific and regulatory standards for determining therapeutic equivalence of modified-release products : Workshop summary report. 2010 Ingår i: Clinical Therapeutics. - : Elsevier BV. - 0149-2918 .- 1879-114X. ; 32:10, s. 1704-1712 Tidskriftsartikel (refereegranskat)abstract The current regulatory approaches and criteria for bioequivalence evaluation were considered adequate for the assessment of therapeutic equivalence and interchangeability of conventional monophasic MR products. Additional measures may occasionally be needed to establish the bioequivalence of multiphasic MR products, and development of such measures is an important objective. The metric of partial AUC was proposed for products designed to have a rapid drug action followed by sustained response.
28.	Clarke, J A, et al. (författare) The role of simulation in support of Internet-based energy services 2004 Ingår i: Energy and Buildings. - : Elsevier BV. - 0378-7788 .- 1872-6178. ; 36:8, s. 837-846 Tidskriftsartikel (refereegranskat)abstract The connection of buildings to the Internet broadband network is becoming commonplace. The establishment of such an infrastructure enables the development of a range of new energy, environment and health-related services for people in their homes and workplaces. Telecommunications companies and utilities are actively developing examples of such services, and local authorities and health care providers are supporting trial deployments. Several of the services can be enabled or enhanced through the application of building modelling and simulation. This paper describes the infrastructure for the e-services under test within a European research project and shows the potential for simulation support for these services.
29.	Conner, P, et al. (författare) A comparative study of breast cell proliferation during hormone replacement therapy: effects of tibolon and continuous combined estrogen-progestogen treatment 2004 Ingår i: Climacteric : the journal of the International Menopause Society. - : Informa UK Limited. - 1369-7137. ; 7:1, s. 50-58 Tidskriftsartikel (refereegranskat)
30.	Conner, P, et al. (författare) Accuracy and impact of prenatal diagnosis in infants with omphalocele 2018 Ingår i: Pediatric surgery international. - : Springer Science and Business Media LLC. - 1437-9813 .- 0179-0358. ; 34:6, s. 629-633 Tidskriftsartikel (refereegranskat)
31.	Conner, P, et al. (författare) Breast cancer and hormonal therapy 2008 Ingår i: Clinical obstetrics and gynecology. - 1532-5520. ; 51:3, s. 592-606 Tidskriftsartikel (refereegranskat)
32.	Conner, P, et al. (författare) Breast cell proliferation in postmenopausal women during HRT evaluated through fine needle aspiration cytology 2003 Ingår i: Breast cancer research and treatment. - : Springer Science and Business Media LLC. - 0167-6806 .- 1573-7217. ; 78:2, s. 159-165 Tidskriftsartikel (refereegranskat)
33.	Conner, P, et al. (författare) Breast epithelial proliferation in postmenopausal women evaluated through fine-needle-aspiration cytology 2001 Ingår i: Climacteric : the journal of the International Menopause Society. - 1369-7137. ; 4:1, s. 7-12 Tidskriftsartikel (refereegranskat)
34.	Conner, P (författare) Breast response to menopausal hormone therapy--aspects on proliferation, apoptosis and mammographic density 2007 Ingår i: Annals of medicine. - : Informa UK Limited. - 0785-3890 .- 1365-2060. ; 39:1, s. 28-41 Tidskriftsartikel (refereegranskat)
35.	Conner, P, et al. (författare) Combined ultrasound and biochemistry for risk evaluation in the first trimester: the Stockholm experience of a new web-based system 2012 Ingår i: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 91:1, s. 34-38 Tidskriftsartikel (refereegranskat)
36.	Conner, P, et al. (författare) Expression of p53 and markers for apoptosis in breast tissue during long-term hormone therapy in cynomolgus monkeys 2005 Ingår i: American journal of obstetrics and gynecology. - : Elsevier BV. - 0002-9378. ; 193:1, s. 58-63 Tidskriftsartikel (refereegranskat)
37.	Conner, P, et al. (författare) First trimester contingent testing with either nuchal translucency or cell-free DNA. Cost efficiency and the role of ultrasound dating 2015 Ingår i: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 94:4, s. 368-375 Tidskriftsartikel (refereegranskat)
38.	Conner, P, et al. (författare) Hyperprolactinemia; etiology, diagnosis and treatment alternatives 1998 Ingår i: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 0001-6349. ; 77:3, s. 249-262 Tidskriftsartikel (refereegranskat)
39.	Conner, P, et al. (författare) Mammographic breast density, hormones, and growth factors during continuous combined hormone therapy 2004 Ingår i: Fertility and sterility. - : Elsevier BV. - 0015-0282. ; 81:6, s. 1617-1623 Tidskriftsartikel (refereegranskat)
40.	Conner, P, et al. (författare) [Prenatal risk assessment of chromosome abnormalities. A combination of ultrasonography and biochemical test--the most effective method] 2006 Ingår i: Lakartidningen. - 0023-7205. ; 103:45, s. 3460-3 Tidskriftsartikel (refereegranskat)
41.	Conner, P, et al. (författare) [Prenatal screening for chromosome abnormalities--time to change strategy] 2006 Ingår i: Lakartidningen. - 0023-7205. ; 103:41, s. 3060-1 Tidskriftsartikel (refereegranskat)
42.	Conner, P, et al. (författare) Whole-genome sequencing for prenatal diagnosis of congenital malformations: a prospective cohort study in a clinical setting 2023 Ingår i: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. - 0960-7692. ; 62, s. 160-160 Konferensbidrag (övrigt vetenskapligt/konstnärligt)
43.	Ekengren, J, et al. (författare) Fluid absorption during transurethral bladder surgery 1995 Ingår i: Scandinavian journal of urology and nephrology. - : Informa UK Limited. - 0036-5599 .- 1651-2065. ; 29:4, s. 519-520 Tidskriftsartikel (refereegranskat)
44.	Grigelioniene, G, et al. (författare) Extending the phenotype of lethal skeletal dysplasia type al Gazali 2011 Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4833 .- 1552-4825. ; 155A:6, s. 1404-1408 Tidskriftsartikel (refereegranskat)
45.	Grigelioniene, G, et al. (författare) The phenotype range of achondrogenesis 1A 2013 Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4833 .- 1552-4825. ; 161161A:10, s. 2554-2558 Tidskriftsartikel (refereegranskat)
46.	Hammarsjö, A., et al. (författare) High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses 2021 Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008 Tidskriftsartikel (refereegranskat)abstract Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
47.	Iwarsson, E, et al. (författare) Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening 2020 Ingår i: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 40:7, s. 852-859 Tidskriftsartikel (refereegranskat)
48.	Iwarsson, E, et al. (författare) Increased risk at first trimester screening: trisomies are not everything, but the risk for an atypical chromosome aberration is low. Experiences from the Swedish Pregnancy Register 2019 Ingår i: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 27, s. 1101-1101 Konferensbidrag (övrigt vetenskapligt/konstnärligt)
49.	Karlsson, M, et al. (författare) The natural history of prenatally diagnosed congenital pulmonary airway malformations and bronchopulmonary sequestrations 2022 Ingår i: Journal of pediatric surgery. - 1531-5037. ; 57:10, s. 282-287 Tidskriftsartikel (refereegranskat)
50.	Karlsson, M, et al. (författare) The natural history of prenatally diagnosed congenital pulmonary airway malformations and bronchopulmonary sequestrations 2022 Ingår i: Journal of pediatric surgery. - : Elsevier BV. - 1531-5037 .- 0022-3468. ; 57:10, s. 282-287 Tidskriftsartikel (refereegranskat)

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