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| 1 | Genetic interactions and modifi er genes in Hirschsprung's disease显示文摘Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung' s disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modif ier genes. | Adam S Wallace Richard B Anderson | 2011 | World Journal of Gastroenterology2011,17,45: | 5 |
| 2 | Brain changes in diabetes mellitus patients withgastrointestinal symptoms显示文摘Diabetes mellitus is a common disease and its prevalence is increasing worldwide. In various studies up to 30%-70% of patients present dysfunction and complications related to the gut. To date several clinical studies have demonstrated that autonomic nervous system neuropathy and generalized neuropathy of the central nervous system(CNS) may play a major role. This systematic review provides an overview of the neurodegenerative changes that occur as a consequence of diabetes with a focus on the CNS changes and gastrointestinal(GI) dysfunction. Animal models where diabetes was induced experimentally support that the disease induces changes in CNS. Recent investigations with electroencephalography and functional brain imaging in patients with diabetes confirm these structural and functional brain changes. Encephalographic studies demonstrated that altered insular processing of sensory stimuli seems to be a key player in symptom generation. In fact one study indicated that the more GI symptoms the patients experienced, the deeper the insular electrical source was located. The electroencephalography was often used in combination with quantitative sensory testingmainly showing hyposensitivity to stimulation of GI organs. Imaging studies on patients with diabetes and GI symptoms mainly showed microstructural changes,especially in brain areas involved in visceral sensory processing. As the electrophysiological and imaging changes were associated with GI and autonomic symptoms they may represent a future therapeutic target for treating diabetics either pharmacologically or with neuromodulation. | Anne M Drewes Eirik Søfteland Georg Dimcevski Adam D Farmer Christina Brock Jens B Frøkjær Klaus Krogh Asbjørn M Drewes | 2016 | World Journal of Diabetes2016,7,2: | 4 |
| 3 | Intravitreal triamcinolone for refractory diabetic macular edema显示文摘 | Adam Martidis Jay S Duker Paul B Greenberg Adam H Rogers Carmen A Puliafito Elias Reichel Caroline Baumal | 2002 | Ophthalmology2002,,5: | 2 |
| 4 | Knowledge spillovers and patent citations: Evidence from a survey of innovators显示文摘 | Jaffe Adam B Manuel Trajtenberg and Michael S Fogarty | 2000 | Industrial Technology and Productivity2000,90,2: | 1 |
| 5 | Calculation of the effects of protonation on rigid-rod polymers显示文摘 | Farmer B L Dudis D S Adams W W | 1994 | Polymer1994,35,17: | 1 |
| 6 | Performance of an adaptive multichannel combiner for long range underwater communications显示文摘 | Sharif B S Neasham J A Hinton O R Adams A E | 1996 | IEE Electronics letters1996,32,3: | 1 |
| 7 | Appling the TranstheoreticalModel to Exercise:A Systematic and Comprehensive Review of theLiterature显示文摘 | Spencer L Adams T B Malone S | 2006 | Health Promotion Practice2006,7,4: | 1 |
| 8 | Transient homodynamic effect of recruitment maneuvers in three experimental models of acute lung injury显示文摘 | Lin S C Adams A B Sinonson D A | 2004 | Crit Care Med2004,32,12: | 1 |
| 9 | A Computationally Efficient Doppler Compensation Sys tern for Under Water Acoustic Communications显示文摘 | Sharif B S Neasham J Hinton O R Adams A E | 2000 | IEEE Journal of Oceanic Engineering2000,25,1: | 1 |
| 10 | Quality of life after burn injury:the impact of joint contracture显示文摘 | Leblebici B Adam M Bagis S | | 0,,06: | 1 |
| 11 | High n-type antimony dopant activation in germanium using laser annealing for n+/p junction diode显示文摘 | THAREJA G CHOPARA S ADAMS B | 2011 | IEEE Electron Device Letters2011,32,7: | 1 |
| 12 | A variable force binder for a draw press显示文摘 | Zhang S L Karl B O | 1998 | Journal of Materials Processing Technology1998,73,: | 1 |
| 13 | A novel Pd/MgAlOx catalyst for NOX storage-reduction显示文摘 | SILLETTI B A ADAMS R T SIGMON S M NIKOLOPOULOS A SPIVEY J J LAMB H H | 2006 | Catal Today2006,114,1: | 1 |
| 14 | Orientation imaging: the emergence of a new microscopy 显示文摘 | Adams B L Wright S I Kunze K | 1993 | Metall Trans1993,24,: | 1 |
| 15 | Viewpoint:experimental recovery of geometrically necessary dislocationdensity in polycrystals显示文摘 | EL-DASHER B S ADAMS B L ROLLETT A D | 2003 | Scripta Materialia2003,48,2: | 1 |
| 16 | Aerosol deposition in ventilation ducts显示文摘 | Adam N Everitt P Riffat S B | 1996 | International Journal of Energy Research1996,20,8: | 1 |
| 17 | Differential development of progeni tor activityfor three B-cell lineages显示文摘 | Kantor A B ,Stall A M,Adams S | 1992 | Proc Natl Acad Sci USA,1992,,: | 1 |
| 18 | Dendritic cell based PSMA immunotherapy for prostate cancer using a CD40-targeted adenovirus vector显示文摘 | Williams B J Bhatia S Adams L K | | 0,,10: | 1 |
| 19 | The Role of Boards of Directors in Corporate Governance:A Conceptual Framework and Survey显示文摘 | Adams R B Hermalin B Weisbach M S | 2010 | Journal of Economic Literature2010,,48: | 1 |
| 20 | An antibody- and synthetic peptide-defined rubella virus E1 glycoprotein neutraliza- tiondomain显示文摘 | Wolinsky J S Sukholutsky E Moore W T Lovett A McCarthy M Adame B | 1993 | J Virol1993,67,2: | 1 |