Now showing items 1116-1135 of 2953

    • G37(P) Incidence of NEC before and after the introduction of probiotics 

      Gaskell, R.; Ross, S.; Odd, D.; Mann, R.; Griew, P.; Matthews, J.; Bartle, David (BMJ, 2016)
    • The GABAB receptor agonist, baclofen, contributes to three distinct varieties of amnesia in the human brain - A detailed case report. 

      Zeman, Adam; Hoefeijzers, S.; Milton, F.; Dewar, M.; Carr, M.; Streatfield, C. (Elsevier, 2016-01)
      We describe a patient in whom long-term, therapeutic infusion of the selective gamma-amino-butyric acid type B (GABAB) receptor agonist, baclofen, into the cerebrospinal fluid (CSF) gave rise to three distinct varieties ...
    • GATA4 mutations are a cause of neonatal and childhood-onset diabetes. 

      Shaw-Smith, Charles; De Franco, Elisa; Lango Allen, H.; Batlle, M.; Flanagan, Sarah; Borowiec, M.; Taplin, C. E.; van Alfen-van der Velden, J.; Cruz-Rojo, J.; Perez de Nanclares, G.; Miedzybrodzka, Z.; Deja, G.; Wlodarska, I.; Mlynarski, W.; Ferrer, J.; Hattersley, Andrew T.; Ellard, Sian (American Diabetes Association, 2014-08)
      The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and Gata6 are required for pancreatic development. In humans, GATA6 ...
    • GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation 

      Shepherd, Maggie; Hattersley, Andrew T. (Cell Press, 2019-01-08)
      Heterozygous de novo mutations in GATA6 are the most frequent cause of pancreatic agenesis in humans. In mice, however, a similar phenotype requires the biallelic loss of Gata6 and its paralog Gata4. To elaborate the ...
    • GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. 

      De Franco, Elisa; Shaw-Smith, Charles; Flanagan, Sarah; Shepherd, Maggie; Hattersley, Andrew T.; Ellard, Sian (Highwire, 2013-03)
      We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring ...
    • Gaze training improves the retention and transfer of laparoscopic technical skills in novices. 

      Vine, S J; Chaytor, R J; McGrath, John S; Masters, R S W; Wilson, M R (Springer, 2013-09)
      Gaze training is an effective way of training basic laparoscopic skills, resulting in faster acquisition periods and more robust subsequent performance under pressure. The current study is a randomized control trial which ...
    • GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. 

      Haliloglu, B.; Hysenaj, G.; Atay, Z.; Guran, T.; Abalı, S.; Turan, S.; Bereket, A.; Ellard, Sian (Wiley, 2016-09)
      Inactivating heterozygous mutations in the GCK gene are a common cause of MODY and result in mild fasting hyperglycaemia, which does not require treatment. We aimed to identify the frequency, clinical and molecular features ...
    • Generating evidence for new high-risk medical devices. 

      Campbell, Bruce (BMJ, 2019-09-04)
    • Generating knowledge. 

      Estcourt, Stephanie (2016-08-30)
    • Genetic architecture of epigenetic and neuronal ageing rates in human brain regions. 

      Lu, A. T.; Hannon, E.; Levine, M. E.; Crimmins, E. M.; Lunnon, Katie; Mill, Jonathan; Geschwind, D. H.; Horvath, S. (Nature, 2017-05-18)
      Identifying genes regulating the pace of epigenetic ageing represents a new frontier in genome-wide association studies (GWASs). Here using 1,796 brain samples from 1,163 individuals, we carry out a GWAS of two DNA ...
    • The genetic architecture of type 2 diabetes 

      Fuchsberger, C. [et al]; Hattersley, Andrew T. (Nature, 2016-08)
      The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified ...
    • Genetic association study of childhood aggression across raters, instruments, and age 

      Ip, H. F.; van der Laan, C. M.; Krapohl, E. M. L.; Brikell, I.; Sánchez-Mora, C.; Nolte, I. M.; St Pourcain, B.; Bolhuis, K.; Palviainen, T.; Zafarmand, H.; Colodro-Conde, L.; Gordon, S.; Zayats, T.; Aliev, F.; Jiang, C.; Wang, C. A.; Saunders, G.; Karhunen, V.; Hammerschlag, A. R.; Adkins, D. E.; Border, R.; Peterson, R. E.; Prinz, J. A.; Thiering, E.; Seppälä, I.; Vilor-Tejedor, N.; Ahluwalia, T. S.; Day, F. R.; Hottenga, J. J.; Allegrini, A. G.; Rimfeld, K.; Chen, Q.; Lu, Y.; Martin, J.; Soler Artigas, M.; Rovira, P.; Bosch, R.; Español, G.; Ramos Quiroga, J. A.; Neumann, A.; Ensink, J.; Grasby, K.; Morosoli, J. J.; Tong, X.; Marrington, S.; Middeldorp, C.; Scott, J. G.; Vinkhuyzen, A.; Shabalin, A. A.; Corley, R.; Evans, L. M.; Sugden, K.; Alemany, S.; Sass, L.; Vinding, R.; Ruth, K.; Tyrrell, J.; Davies, G. E.; Ehli, E. A.; Hagenbeek, F. A.; De Zeeuw, E.; Van Beijsterveldt, Tcem; Larsson, H.; Snieder, H.; Verhulst, F. C.; Amin, N.; Whipp, A. M.; Korhonen, T.; Vuoksimaa, E.; Rose, R. J.; Uitterlinden, A. G.; Heath, A. C.; Madden, P.; Haavik, J.; Harris, J. R.; Helgeland, Ø; Johansson, S.; Knudsen, G. P. S.; Njolstad, P. R.; Lu, Q.; Rodriguez, A.; Henders, A. K.; Mamun, A.; Najman, J. M.; Brown, S.; Hopfer, C.; Krauter, K.; Reynolds, C.; Smolen, A.; Stallings, M.; Wadsworth, S.; Wall, T. L.; Silberg, J. L.; Miller, A.; Keltikangas-Järvinen, L.; Hakulinen, C.; Pulkki-Råback, L.; Havdahl, A.; Magnus, P.; Raitakari, O. T.; Perry, J. R. B.; Llop, S.; Lopez-Espinosa, M. J.; Bønnelykke, K.; Bisgaard, H.; Sunyer, J.; Lehtimäki, T.; Arseneault, L.; Standl, M.; Heinrich, J.; Boden, J.; Pearson, J.; Horwood, L. J.; Kennedy, M.; Poulton, R.; Eaves, L. J.; Maes, H. H.; Hewitt, J.; Copeland, W. E.; Costello, E. J.; Williams, G. M.; Wray, N.; Järvelin, M. R.; McGue, M.; Iacono, W.; Caspi, A.; Moffitt, T. E.; Whitehouse, A.; Pennell, C. E.; Klump, K. L.; Burt, S. A.; Dick, D. M.; Reichborn-Kjennerud, T.; Martin, N. G.; Medland, S. E.; Vrijkotte, T.; Kaprio, J.; Tiemeier, H.; Davey Smith, G.; Hartman, C. A.; Oldehinkel, A. J.; Casas, M.; Ribasés, M.; Lichtenstein, P.; Lundström, S.; Plomin, R.; Bartels, M.; Nivard, M. G.; Boomsma, D. I. (Nature, 2021-07-30)
      Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from ...
    • Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. 

      Deeb, A.; Habeb, A. M.; Kaplan, W.; Attia, S.; Hadi, S.; Osman, A.; Al-Jubeh, J.; Flanagan, Sarah; DeFranco, Elisa; Ellard, Sian (Wiley, 2016-03)
      Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum ...
    • Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients 

      Broadbent, H.; Farran, E. K.; Chin, E.; Metcalfe, K.; Tassabehji, M.; Turnpenny, Peter D.; Sansbury, Francis H.; Meaburn, E.; Karmiloff-Smith, A. (BioMed Central, 2014-07-01)
      BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, ...
    • Genetic correlates of social stratification in Great Britain 

      Frayling, Timothy M. (Nature, 2019-12)
      Human DNA polymorphisms vary across geographic regions, with the most commonly observed variation reflecting distant ancestry differences. Here we investigate the geographic clustering of common genetic variants that ...
    • A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. 

      Shepherd, Maggie; Shields, Beverley; Ellard, Sian; Rubio-Cabezas, O.; Hattersley, Andrew T. (Wiley, 2009-04)
      Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment. Patients with HNF1A ...
    • Genetic Elucidation of Nonsyndromic Hearing Loss in the High-Throughput Sequencing Era 

      Vona, B.; Hofrichter, M.A.H.; Chioza, Barry A.; Crosby, Andrew H.; Nanda, I.; Haaf, T. (Karger, 2016)
      Hereditary hearing loss is a classic genetically heterogeneous condition with nearly 100 nonsyndromic hearing loss genes currently described and many more awaiting discovery. Priorities in the field with potentially rapid ...
    • Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. 

      Yaghootkar, Hanieh; Lotta, L. A.; Tyrrell, Jessica; Smit, R. A. J.; Jones, S. E.; Donnelly, L.; Beaumont, R.; Campbell, A.; Tuke, M. A.; Hayward, C.; Ruth, K. S.; Padmanabhan, S.; Jukema, J. W.; Palmer, C. C.; Hattersley, Andrew T.; Freathy, Rachel M.; Langenberg, C.; Wareham, N. J.; Wood, A. R.; Murray, A.; Weedon, M. N.; Sattar, N.; Pearson, E.; Scott, R. A.; Frayling, T. M. (American Diabetes Association, 2016-08)
      Recent genetic studies have identified some alleles that are associated with higher BMI but lower risk of type 2 diabetes, hypertension, and heart disease. These "favorable adiposity" alleles are collectively associated ...
    • Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. 

      Tyrrell, Jessica; Richmond, R. C.; Palmer, T. M.; Feenstra, B.; Rangarajan, J.; Metrustry, S.; Cavadino, A.; Paternoster, L.; Armstrong, L. L.; De Silva, N. M. G.; Wood, A. R.; Horikoshi, M.; Geller, F.; Myhre, R.; Bradfield, J. P.; Kreiner-Møller, E.; Huikari, V.; Painter, J. N.; Hottenga, J.J.; Allard, C.; Berry, D. J.; Bouchard, L.; Das, S.; Evans, D. M.; Hakonarson, H.; Hayes, M. G.; Heikkinen, J.; Hofman, A.; Knight, B.; Lind, P. A.; McCarthy, M. I.; McMahon, G.; Medland, S. E.; Melbye, M.; Morris, A. P.; Nodzenski, M.; Reichetzeder, C.; Ring, S. M.; Sebert, S.; Sengpiel, V.; Sørensen, T. I. A.; Willemsen, G.; de Geus, E. J. C.; Martin, N. G.; Spector, T. D.; Power, C.; Järvelin, M.-R.; Bisgaard, H.; Grant, S. F. A.; Nohr, E. A.; Jaddoe, V. W.; Jacobsson, B.; Murray, J. C.; Hocher, B.; Hattersley, Andrew T.; Scholtens, D. M.; Davey Smith, G.; Hivert, M.-F.; Felix, J. F.; Hyppönen, E.; Lowe, W. L.; Frayling, T. M.; Lawlor, D. A.; Freathy, Rachel M. (JAMA, 2016-03-15)
      Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these ...
    • Genetic evidence for different adiposity phenotypes and their opposing influence on ectopic fat and risk of cardiometabolic disease. 

      Martin, Susan; Cule, Madeleine; Basty, Nicolas; Tyrrell, Jessica; Beaumont, Robin N.; Wood, Andrew R.; Frayling, Timothy M.; Sorokin, Elena; Whitcher, Brandon; Liu, Yi; Bell, Jimmy D.; Thomas, E. Louise; Yaghootkar, Hanieh (American Diabetes Association, 2021-05-12)
      To understand the causal role of adiposity and ectopic fat in type 2 diabetes and cardiometabolic diseases, we aimed to identify two clusters of adiposity genetic variants, one with 'adverse' metabolic effects (UFA) and ...