Now showing items 646-665 of 2953

    • Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics 

      Rickman, Olivia J.; Voutsina, Nikol; Baple, Emma L.; Crosby, Andrew H. (Elsevier Science, 2020-10-16)
      The raw datasets of oxysterol quantifications from whole cell and mitochondrial fractions of THP-1 monocytes and macrophages, neuronal-like SH-SH5Y cells and human peripheral blood mononuclear cells are presented. Oxysterols ...
    • Day case laparoscopic cholecystectomy: Safety and feasibility in obese patients. 

      Gregori, M.; Miccini, M.; Biacchi, D.; deSchoutheete, Jean-Charles; Bonomo, Luca; Manzelli, Antonio (Elsevier, 2017-12-09)
      Day-case laparoscopic cholecystectomy (DCLC) is not universally adopted and its use is limited to patients selected by non-standardized criteria. Since laparoscopic cholecystectomy is considered technically more difficult ...
    • De novo missense variants in FBXO11 alter its protein expression and subcellular localization 

      Gregor, A.; Meerbrei, T.; Gerstner, T.; Toutain, A.; Lynch, S. A.; Stals, K.; Maxton, C.; Lemke, J. R.; Bernat, J. A.; Bombei, H. M.; Foulds, N.; Hunt, D.; Kuechler, A.; Beygo, J.; Stöbe, P.; Bouman, A.; Palomares-Bralo, M.; Santos-Simarro, F.; Garcia-Minaur, S.; Pacio-Miguez, M.; Popp, B.; Vasileiou, G.; Hebebrand, M.; Reis, A.; Schuhmann, S.; Krumbiegel, M.; Brown, N. J.; Sparber, P.; Melikyan, L.; Bessonova, L.; Cherevatova, T.; Sharkov, A.; Shcherbakova, N.; Dabir, T.; Kini, U.; Schwaibold, E. M. C.; Haack, T. B.; Bertoli, M.; Hoffjan, S.; Falb, R.; Shinawi, M.; Sticht, H.; Zweier, C. (Oxford University Press, 2021-09-09)
      Recently, we and others identified de novo FBXO11 variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic ...
    • Decreased tibial nerve movement in patients with failed back surgery syndrome and persistent leg pain 

      Shum, G; Hutton, Mike; Chan, Daniel; Chauhan, Rohan (Springer, 2019-07)
      Purpose To measure and compare the total and normalised tibial nerve movements during forward bending in patients with and without failed back surgery syndrome (FBSS) and persistent leg pain following anatomically successful ...
    • Deep and Frequent Phenotyping study protocol: an observational study in prodromal Alzheimer's disease 

      Ballard, Clive (BMJ, 2019-03-23)
      Introduction: Recent failures of potential novel therapeutics for Alzheimer's disease (AD) have prompted a drive towards clinical studies in prodromal or preclinical states. However, carrying out clinical trials in early ...
    • A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. 

      Çamtosun, E.; Flanagan, Sarah; Ellard, Sian; Şıklar, Z.; Hussain, K.; Kocaay, P.; Berberoğlu, M. (Galenos, 2015-06)
      Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and ...
    • Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype 

      Rankin, Julia (Wiley, 2019-04)
      Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ...
    • Defining a New Prognostic index for Stage I Non-seminomatous Germ Cell Tumors using CXCL12 Expression and Proportion of Embyronal Carcinoma 

      Gilbert, D. C.; Al-Saadi, R.; Thway, K.; Chandler, Ian; Berney, D. M.; Gabe, R.; Stenning, S.; Sweet, J.; Huddart, R.; Shipley, J. M. (Clinical Cancer Research, 2015-10-09)
      PURPOSE: Up to 50% of patients diagnosed with stage I non-seminomatous germ cell tumors (NSGCT) harbor occult metastases. Patients are managed by surveillance with chemotherapy at relapse or adjuvant treatment up-front. ...
    • Defining a Severe Asthma Super-Responder: Findings from a Delphi Process 

      Upham, J. W.; Le Lievre, C.; Jackson, D. J.; Masoli, M.; Wechsler, M. E.; Price, D. B. (Elsevier, 2021-07-13)
      BACKGROUND: Clinicians are increasingly recognizing severe asthma patients in whom biologics and other add-on therapies lead to dramatic improvement. Currently, there is no agreed-upon super-responder (SR) definition. ...
    • Defining drug response for stratified medicine. 

      Lonergan, M.; Senn, S. J.; McNamee, C.; Daly, A. K.; Sutton, R.; Hattersley, Andrew T.; Pearson, E.; Pirmohamed, M. (Elsevier, 2017-01)
      The premise for stratified medicine is that drug efficacy, drug safety, or both, vary between groups of patients, and biomarkers can be used to facilitate more targeted prescribing, with the aim of improving the benefit:risk ...
    • Defining left ventricular remodeling following acute ST-segment elevation myocardial infarction using cardiovascular magnetic resonance. 

      Bulluck, H.; Go, Y.Y.; Crimi, G.; Ludman, Andrew J.; Rosmini, S.; Abdel-Gadir, A.; Bhuva, A. N.; Treibel, T. A.; Fontana, M.; Pica, S.; Raineri, C.; Sirker, A.; Herrey, A. S.; Manisty, C.; Groves, A.; Moon, J. C.; Hausenloy, D. J. (BioMed Central, 2017-03-13)
      The assessment of post-myocardial infarction (MI) left ventricular (LV) remodeling by cardiovascular magnetic resonance (CMR) currently uses criteria defined by echocardiography. Our aim was to provide CMR criteria for ...
    • Defining the genetic aetiology of monogenic diabetes can improve treatment. 

      Gloyn, A. L.; Ellard, Sian (Taylor & Francis, 2006-09)
      A molecular genetic diagnosis is now possible for > 80% of patients with monogenic diabetes. This not only provides accurate information regarding inheritance and prognosis, but can inform treatment decisions and improve ...
    • Defining the role of common variation in the genomic and biological architecture of adult human height 

      Wood, A. R.; Hattersley, Andrew T.; Frayling, Timothy M. (Nature, 2014-11)
      Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in ...
    • Definitions for loss of domain: an International Delphi Consensus of Expert Surgeons 

      Smart, Neil J. (Springer, 2020-04)
      No standardized written or volumetric definition exists for 'loss of domain' (LOD). This limits the utility of LOD as a morphological descriptor and as a predictor of peri- and postoperative outcomes. Consequently, our aim ...
    • Delayed absorbable synthetic plug (GORE BIO-A ) for the treatment of fistula in ano: a systematic review 

      Narang, Sunil K.; Jones, C.; Alam, Nasra N; Daniels, Ian R.; Smart, Neil J. (Wiley, 2016-01-04)
      AIM: Recent advances in the treatment of fistula-in-ano have focused on surgical techniques that preserve sphincter integrity. Plugs that obliterate the lumen of the fistula track have been proposed as one such method and ...
    • Delineating the expanding phenotype associated with SCAPER gene mutation 

      Fasham, James; Baple, Emma L.; Crosby, Andrew H. (Wiley, 2019-08)
    • Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 

      Weerts, M. J. A.; Lanko, K.; Guzmán-Vega, F. J.; Jackson, A.; Ramakrishnan, R.; Cardona-Londoño, K. J.; Peña-Guerra, K. A.; van Bever, Y.; van Paassen, B. W.; Kievit, A.; van Slegtenhorst, M.; Allen, N. M.; Kehoe, C. M.; Robinson, H. K.; Pang, L.; Banu, S. H.; Zaman, M.; Efthymiou, S.; Houlden, H.; Järvelä, I.; Lauronen, L.; Määttä, T.; Schrauwen, I.; Leal, S. M.; Ruivenkamp, C. A. L.; Barge-Schaapveld, Dqcm; Peeters-Scholte, Cmpcd; Galehdari, H.; Mazaheri, N.; Sisodiya, S. M.; Harrison, V.; Sun, A.; Thies, J.; Pedroza, L. A.; Lara-Taranchenko, Y.; Chinn, I. K.; Lupski, J. R.; Garza-Flores, A.; McGlothlin, J.; Yang, L.; Huang, S.; Wang, X.; Jewett, T.; Rosso, G.; Lin, X.; Mohammed, S.; Merritt, J. L., 2nd; Mirzaa, G. M.; Timms, A. E.; Scheck, J.; Elting, M. W.; Polstra, A. M.; Schenck, L.; Ruzhnikov, M. R. Z.; Vetro, A.; Montomoli, M.; Guerrini, R.; Koboldt, D. C.; Mosher, T. M.; Pastore, M. T.; McBride, K. L.; Peng, J.; Pan, Z.; Willemsen, M.; Koning, S.; Turnpenny, P. D.; de Vries, B. B. A.; Gilissen, C.; Pfundt, R.; Lees, M.; Braddock, S. R.; Klemp, K. C.; Vansenne, F.; van Gijn, M. E.; Quindipan, C.; Deardorff, M. A.; Hamm, J. A.; Putnam, A. M.; Baud, R.; Walsh, L.; Lynch, S. A.; Baptista, J.; Person, R. E.; Monaghan, K. G.; Crunk, A.; Keller-Ramey, J.; Reich, A.; Elloumi, H. Z.; Alders, M.; Kerkhof, J.; McConkey, H.; Haghshenas, S.; Maroofian, R.; Sadikovic, B.; Banka, S.; Arold, S. T.; Barakat, T. S. (Nature, 2021-08-03)
      PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for ...
    • Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant 

      Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton-Brown, Katrina (Wiley, 2021-05-25)
      Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense ...
    • Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome 

      Turnpenny, Peter (Wiley, 2019-06)
      Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, ...