Now showing items 55-74 of 649

    • Baraitser-Winter Cerebrofrontofacial Syndrome. 

      Yates, T M; Turner, Claire L.; Firth, H V; Berg, J; Pilz, D T (Wiley, 2016-09-13)
      Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and ...
    • BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan 

      Crosby, Andrew; Baple, Emma L. (Wiley, 2019-11)
      Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure or function of cellular cilia. As such, a precise molecular ...
    • BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription 

      Dias, C.; Estruch, S. B.; Graham, S. A.; McRae, J.; Sawiak, S. J.; Hurst, J. A.; Joss, S. K.; Holder, S. E.; Morton, J. E.V.; Turner, Claire L.; Thevenon, J.; Mellul, K.; Sánchez-Andrade, G.; Ibarra-Soria, X.; Deriziotis, P.; Santos, R. F.; Lee, S-C.; Faivre, L.; Kleefstra, T.; Liu, P.; Hurles, M. E.; Fisher, S.E.; Logan, D.W. (Elsevier, 2016-07-21)
      Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in ...
    • Being and becoming a spasticity nurse specialist: a reflexive narrative study 

      Jarrett, Louise (Mark Allen Group, 2015-06-02)
      Spasticity is a common neurological symptom that can lead to complex disability, particularly in progressive multiple sclerosis (MS). A key role of the specialist spasticity nurse is to support people to effectively manage ...
    • Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes. 

      Williams, G. M.; Long, A. E.; Wilson, I. V.; Aitken, R. J.; Wyatt, R. C.; McDonald, Timothy J.; Wong, F. S.; Hattersley, Andrew T.; Williams, A. J. K.; Bingley, P. J.; Gillespie, K. M. (Springer, 2016-09-03)
      This study aimed to determine the frequency of residual beta cell function in individuals with long-standing type 1 diabetes who were recruited at diagnosis, and relate this to baseline and current islet autoantibody profile.
    • Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. 

      Stride, A.; Ellard, Sian; Clark, P.; Shakespeare, L.; Salzmann, Maurice B.; Shepherd, Maggie; Hattersley, Andrew T. (Highwire, 2005-07)
      Patients with diabetes due to hepatocyte nuclear factor (HNF)-1alpha mutations have beta-cell deficiency, insulin sensitivity, altered proinsulin levels, and a low renal threshold for glucose. It is uncertain how many of ...
    • beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. 

      Frayling, T. M.; Evans, J. C.; Bulman, M. P.; Pearson, E. R.; Allen, Louisa; Owen, K.; Bingham, Coralie; Hannemann, Michael; Shepherd, Maggie; Ellard, Sian; Hattersley, Andrew T. (Highwire, 2001-02)
      beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ...
    • Bevacizumab and Combination Chemotherapy in rectal cancer Until Surgery (BACCHUS): a phase II, multicentre, open-label, randomised study of neoadjuvant chemotherapy alone in patients with high-risk cancer of the rectum 

      Glynne-Jones, R.; Hava, N.; Goh, V.; Bosompem, S.; Bridgewater, J.; Chau, I.; Gaya, A.; Wasan, H.; Moran, B.; Melcher, L.; MacDonald, A.; Osborne, Melanie; Beare, S.; Jitlal, M.; Lopes, A.; Hall, M.; West, N.; Quirke, P.; Wong, W. L.; Harrison, M.; Bacchus, investigators (BioMed Central, 2015-10-23)
      BACKGROUND: In locally advanced rectal cancer (LARC) preoperative chemoradiation (CRT) is the standard of care, but the risk of local recurrence is low with good quality total mesorectal excision (TME), although many still ...
    • Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 

      Xu, Z.[et al]; Turnpenny, Peter D. (Cell Press, 2018-07-05)
      The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth ...
    • Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 

      Sansbury, F. H.; Kirel, B.; Caswell, Richard C; Allen, H. L.; Flanagan, Sarah; Hattersley, Andrew T.; Ellard, Sian; Shaw-Smith, Charles (Nature, 2015-12)
      Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations ...
    • Bilateral testicular torsion in a 36-week neonate. 

      Clarke, Michael J H; Crocker, Samuel; Bartle, David; Apsey, John (BMJ, 2018-02-07)
      A male neonate born after uncomplicated vaginal delivery at 36 weeks' gestation was noted to have large and firm testicles bilaterally on routine examination. A testicular ultrasound scan was subsequently organised that ...
    • Bile acid metabolism is altered in those with insulin resistance after gestational diabetes mellitus. 

      Shaw, Nicholas (Elsevier, 2018-11-30)
      Bile acids (BAs) are known mediators of glucose metabolism that are altered in type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM). We hypothesised that post-prandial BA fractions are changed in women ...
    • Biofilm in group A streptococcal necrotizing soft tissue infections 

      Siemens, N.; Chakrakodi, B.; Shambat, S. M.; Morgan, Marina; Bergsten, H.; Hyldegaard, O.; Skrede, S.; Arnell, P.; Madsen, M. B.; Johansson, L.; Juarez, J.; Bosnjak, L.; Mörgelin, M.; Svensson, M.; Norrby-Teglund, A. (American Society for Clinical Investigation, 2016-07-07)
    • Bony changes in Primary Hyperparathyroidism. 

      Thomas, Nicholas; Anaspure, Rahul; Vaidya, Bijay (Oxford Journals, 2017-07-28)
    • A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. 

      Flanagan, S E; Vairo, F; Johnson, M B; Caswell, R; Laver, T W; Lango Allen, H; Hussain, K; Ellard, Sian (Wiley, 2017-03-20)
      Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes ...
    • CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations 

      Ellard, Sian (Cell Press, 2019-12)
      Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary ...
    • Can agent-based simulation be used as a tool to support polypharmacy prescribing practice? 

      Chalk, D.; Manzi, S.; Britten, N.; Kluettgens, B.; Magura, Ratidzai; Valderas, J. (BMJ, 2017-07)
      We sought to develop a simulation modelling method to help better understand the complex interplay of factors that lead to people with type 2 diabetes and asthma not taking all of their medication as prescribed when faced ...
    • The cancer-associated cell migration protein TSPAN1 is under control of androgens and its upregulation increases prostate cancer cell migration. 

      Munkley, J.; McClurg, U. L.; Livermore, K. E.; Ehrmann, I.; Knight, Bridget; Mccullagh, Paul; McGrath, John S; Crundwell, Malcolm; Harries, L. W.; Leung, H Y; Mills, I. G.; Robson, C. N.; Rajan, P.; Elliott, D. J. (Nature, 2017-07-12)
      Cell migration drives cell invasion and metastatic progression in prostate cancer and is a major cause of mortality and morbidity. However the mechanisms driving cell migration in prostate cancer patients are not fully ...
    • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 

      Peterlongo, P.; Chang-Claude, J.; Moysich, K. B.; Rudolph, A.; Schmutzler, R. K.; Simard, J.; Soucy, P.; Eeles, R. A.; Easton, D. F.; Hamann, U.; Wilkening, S.; Chen, B.; Rookus, M. A.; Schmidt, M. K.; van der Baan, F. H.; Spurdle, A. B.; Walker, L. C.; Lose, F.; Maia, A. T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Gomez Garcia, E. B.; Olopade, O. I.; Nussbaum, R. L.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Orsulic, S.; Lester, J.; Chung, W. K.; Miron, A.; Southey, M. C.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Ding, Y. C.; Neuhausen, S. L.; Hansen, T. V.; Gerdes, A. M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E. E.; Blazer, K. R.; Weitzel, J. N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M. G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J. E.; Donaldson, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Davidson, R.; Hodgson, S. V.; Ellis, S.; Cole, T.; Embrace,; Godwin, A. K.; Claes, K.; Van Maerken, T.; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O. M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Gemo Study Collaborators; Piedmonte, M.; Friedlander, M. L.; Rodriguez, G. C.; Copeland, L. J.; de la Hoya, M.; Segura, P. P.; Nevanlinna, H.; Aittomaki, K.; van Os, T. A.; Meijers-Heijboer, H. E.; van der Hout, A. H.; Vreeswijk, M. P.; Hoogerbrugge, N.; Ausems, M. G.; van Doorn, H. C.; Collee, J. M.; Hebon,; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M. R.; Olswold, C.; Couch, F. J.; Lindor, N. M.; Wang, X.; Szabo, C. I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M. E.; Zhang, L.; Joseph, V.; Berger, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Rennert, G.; Mulligan, A. M.; Glendon, G.; Tchatchou, S.; Andrulis, I. L.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Thomassen, M.; Jensen, U. B.; Laitman, Y.; Rantala, J.; von Wachenfeldt, A.; Ehrencrona, H.; Askmalm, M. S.; Borg, A.; Kuchenbaecker, K. B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P. D.; Chenevix-Trench, G.; K. ConFab Investigators; Antoniou, A. C.; Friedman, E. (Cancer Epidemiol Biomarkers Prev, 2015-01-01)
      BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
    • Care pathway: the role of the health care professional in the management of spasticity 

      Keenan, L.; Stevenson, V.; Jarrett, Louise (Multiple Sclerosis Trust, 2010)