51 results on '"MacDonald, Ian"'
Search Results
2. Additional file 2 of Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i): protocol for a cluster randomised controlled trial to compare screening, feedback and intervention for child anxiety problems to usual school practice
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Reardon, Tessa, Ukoumunne, Obioha C., Violato, Mara, Ball, Susan, Brown, Paul, Ford, Tamsin, Gray, Alastair, Hill, Claire, Jasper, Bec, Larkin, Michael, Macdonald, Ian, Morgan, Fran, Pollard, Jack, Sancho, Michelle, Sniehotta, Falko F., Spence, Susan H., Stallard, Paul, Stainer, Jason, Taylor, Lucy, Williamson, Victoria, Day, Emily, Fisk, Jennifer, Green, Iheoma, Halliday, Gemma, Hennigan, Ciara, Pearcey, Samantha, Robertson, Olly, and Creswell, Cathy
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Additional file 2: Supplement 2. Schedule of enrolment, intervention, and assessment.
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- 2022
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3. Some aspects of the union security provisions in the Australian Conciliation and Arbitration jurisdiction
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MacDonald, Ian George.
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ComputingMilieux_COMPUTERSANDEDUCATION ,ComputerApplications_COMPUTERSINOTHERSYSTEMS ,Uncategorized - Abstract
This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff and postgraduate students can use the link in the References field.
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- 2022
- Full Text
- View/download PDF
4. Additional file 3 of Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i): protocol for a cluster randomised controlled trial to compare screening, feedback and intervention for child anxiety problems to usual school practice
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Reardon, Tessa, Ukoumunne, Obioha C., Violato, Mara, Ball, Susan, Brown, Paul, Ford, Tamsin, Gray, Alastair, Hill, Claire, Jasper, Bec, Larkin, Michael, Macdonald, Ian, Morgan, Fran, Pollard, Jack, Sancho, Michelle, Sniehotta, Falko F., Spence, Susan H., Stallard, Paul, Stainer, Jason, Taylor, Lucy, Williamson, Victoria, Day, Emily, Fisk, Jennifer, Green, Iheoma, Halliday, Gemma, Hennigan, Ciara, Pearcey, Samantha, Robertson, Olly, and Creswell, Cathy
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Additional file 3: Supplement 3. Progression criteria assessed by the Programme Steering Committee prior to progressing to Phase 2.
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- 2022
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5. sj-pdf-1-jcb-10.1177_0271678X221082911 - Supplemental material for Altered functional connectivity during hypoglycaemia in type 1 diabetes
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Jacob, Peter, Nwokolo, Munachiso, Cordon, Sally M, Macdonald, Ian A, Zelaya, Fernando O, Amiel, Stephanie A, O���Daly, Owen, and Choudhary, Pratik
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110320 Radiology and Organ Imaging ,FOS: Clinical medicine ,FOS: Biological sciences ,Medicine ,Cell Biology ,110305 Emergency Medicine ,110306 Endocrinology ,Biochemistry ,69999 Biological Sciences not elsewhere classified ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental material, sj-pdf-1-jcb-10.1177_0271678X221082911 for Altered functional connectivity during hypoglycaemia in type 1 diabetes by Peter Jacob, Munachiso Nwokolo, Sally M Cordon, Ian A Macdonald, Fernando O Zelaya, Stephanie A Amiel, Owen O���Daly and Pratik Choudhary in Journal of Cerebral Blood Flow & Metabolism
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- 2022
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6. Additional file 1 of Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i): protocol for single-arm feasibility trial
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Reardon, Tessa, Ball, Susan, Breen, Maria, Brown, Paul, Day, Emily, Ford, Tamsin, Gray, Alastair, Green, Iheoma, Hill, Claire, Jasper, Bec, King, Thomas, Larkin, Michael, Macdonald, Ian, Morgan, Fran, Pollard, Jack, Sancho, Michelle, Sniehotta, Falko F., Spence, Susan H., Stallard, Paul, Stainer, Jason, Ukoumunne, Obioha C., Violato, Mara, Williams, Chloe, Williamson, Victoria, and Creswell, Cathy
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Additional file 1. SPIRIT 2013 Checklist: Recommended items to address in a clinical trial protocol and related documents*.
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- 2022
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7. Additional file 2 of Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i): protocol for single-arm feasibility trial
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Reardon, Tessa, Ball, Susan, Breen, Maria, Brown, Paul, Day, Emily, Ford, Tamsin, Gray, Alastair, Green, Iheoma, Hill, Claire, Jasper, Bec, King, Thomas, Larkin, Michael, Macdonald, Ian, Morgan, Fran, Pollard, Jack, Sancho, Michelle, Sniehotta, Falko F., Spence, Susan H., Stallard, Paul, Stainer, Jason, Ukoumunne, Obioha C., Violato, Mara, Williams, Chloe, Williamson, Victoria, and Creswell, Cathy
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Additional file 2. Schedule of enrolment, intervention and assessment.
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- 2022
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8. sj-pdf-1-jcb-10.1177_0271678X221082911 - Supplemental material for Altered functional connectivity during hypoglycaemia in type 1 diabetes
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Jacob, Peter, Nwokolo, Munachiso, Cordon, Sally M, Macdonald, Ian A, Zelaya, Fernando O, Amiel, Stephanie A, O���Daly, Owen, and Choudhary, Pratik
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110320 Radiology and Organ Imaging ,FOS: Clinical medicine ,FOS: Biological sciences ,Medicine ,Cell Biology ,110305 Emergency Medicine ,110306 Endocrinology ,Biochemistry ,69999 Biological Sciences not elsewhere classified ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental material, sj-pdf-1-jcb-10.1177_0271678X221082911 for Altered functional connectivity during hypoglycaemia in type 1 diabetes by Peter Jacob, Munachiso Nwokolo, Sally M Cordon, Ian A Macdonald, Fernando O Zelaya, Stephanie A Amiel, Owen O���Daly and Pratik Choudhary in Journal of Cerebral Blood Flow & Metabolism
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- 2022
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9. Additional file 3 of Identifying Child Anxiety Through Schools-identification to intervention (iCATS-i2i): protocol for single-arm feasibility trial
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Reardon, Tessa, Ball, Susan, Breen, Maria, Brown, Paul, Day, Emily, Ford, Tamsin, Gray, Alastair, Green, Iheoma, Hill, Claire, Jasper, Bec, King, Thomas, Larkin, Michael, Macdonald, Ian, Morgan, Fran, Pollard, Jack, Sancho, Michelle, Sniehotta, Falko F., Spence, Susan H., Stallard, Paul, Stainer, Jason, Ukoumunne, Obioha C., Violato, Mara, Williams, Chloe, Williamson, Victoria, and Creswell, Cathy
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Additional file 3. Indicative interview topic guides.
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- 2022
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10. Enhancing learning by informed student decision making on learning strategy use
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Macdonald, Ian
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ComputingMilieux_COMPUTERSANDEDUCATION ,ComputerApplications_COMPUTERSINOTHERSYSTEMS ,Uncategorized - Abstract
This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff and postgraduate students can use the link in the Reference field.
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- 2021
- Full Text
- View/download PDF
11. Additional file 1 of Commercial weight loss diets meet nutrient requirements in free living adults over 8 weeks: A randomised controlled weight loss trial
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Truby, Helen, Hiscutt, Rebecca, Herriot, Anne M, Stanley, Manana, deLooy, Anne, Fox, Kenneth R, Baic, Susan, Robson, Paula J, Macdonald, Ian, Taylor, Moira A, Ware, Robert, Logan, Catherine, and Livingstone, MBE
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Data_FILES - Abstract
Authors’ original file for figure 1
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- 2021
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12. Additional file 3 of Commercial weight loss diets meet nutrient requirements in free living adults over 8 weeks: A randomised controlled weight loss trial
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Truby, Helen, Hiscutt, Rebecca, Herriot, Anne M, Stanley, Manana, deLooy, Anne, Fox, Kenneth R, Baic, Susan, Robson, Paula J, Macdonald, Ian, Taylor, Moira A, Ware, Robert, Logan, Catherine, and Livingstone, MBE
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Data_FILES - Abstract
Authors’ original file for figure 3
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- 2021
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13. Additional file 2 of Commercial weight loss diets meet nutrient requirements in free living adults over 8 weeks: A randomised controlled weight loss trial
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Truby, Helen, Hiscutt, Rebecca, Herriot, Anne M, Stanley, Manana, deLooy, Anne, Fox, Kenneth R, Baic, Susan, Robson, Paula J, Macdonald, Ian, Taylor, Moira A, Ware, Robert, Logan, Catherine, and Livingstone, MBE
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Data_FILES - Abstract
Authors’ original file for figure 2
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- 2021
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14. Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations
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MacDonald, Ian M, Moen, Christopher, Duncan, Jacque L, Tsang, Stephen H, Cehajic-Kapetanovic, Jasmina, and Aleman, Tomas S
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Canada ,5.2 Cellular and gene therapies ,Leber Congenital Amaurosis ,Neurosciences ,Biomedical Engineering ,Genetic Therapy ,Neurodegenerative ,Eye ,gene therapy ,eye diseases ,Opthalmology and Optometry ,Genetics ,retinal degeneration ,Humans ,sense organs ,Eye Disease and Disorders of Vision ,Biotechnology ,choroideremia - Abstract
PurposeTo report combined viewpoints on ocular gene therapy from a select group of clinician scientists and a patient advocacy group.MethodsWith the support of Randy Wheelock and Dr. Chris Moen from the Choroideremia Research Foundation (CRF), a special interest group at the 2019 Annual meeting of the Association for Research in Vision and Ophthalmology in Vancouver, Canada, shared their knowledge, experience, concepts, and ideas and provided a forum to discuss therapeutic strategies for the treatment of inherited retinal disorders, using experience in choroideremia (CHM) as a model.ResultsA member of the CRF presented the patient perspective and role in clinical trials. Five clinician scientists presented reasons for limited long-term visual improvement in many gene therapy trials, including challenges with dose, incomplete understanding of photoreceptor metabolism, vector delivery, inflammation, and identification of patients likely to benefit from treatment.ConclusionsThe shared experience of the five clinician scientists indicates that the results of ocular gene therapy for choroideremia have been less successful than for RPE65-related Leber congenital amaurosis. Improvement in vector delivery and developing a better understanding of gene expression in target tissues, treatment dose and side effects, and inflammation, as well as identifying patients who are most likely to benefit without suffering excessive risk, are necessary to advance the development of effective therapies for inherited retinal degenerations.Translational relevanceAdditional long-term data are required to determine if ocular gene therapy will be sufficient to alter natural progression in choroideremia. Combination therapies may have to be considered, as well as alternative vectors that minimize risk.
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- 2020
15. Additional file 2 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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Data_FILES - Abstract
Additional file 2. Participant characteristics.
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- 2020
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16. Additional file 6 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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Additional file 6. Sensitivity analysis of long and short sleepers.
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- 2020
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17. Additional file 3 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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Additional file 3. Variation matrix.
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- 2020
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18. Suppplementary_files - The effects of moderate alterations in adrenergic activity on acute appetite regulation in obese women: A randomised crossover trial
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Tsofliou, Fotini, Pitsiladis, Yannis P, Lara, Jose, Hadjicharalambous, Marios, Macdonald, Ian A, Wallace, Mike A, and Lean, Mike E J
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111199 Nutrition and Dietetics not elsewhere classified ,FOS: Health sciences - Abstract
Suppplementary_files for The effects of moderate alterations in adrenergic activity on acute appetite regulation in obese women: A randomised crossover trial by Fotini Tsofliou, Yannis P Pitsiladis, Jose Lara, Marios Hadjicharalambous, Ian A Macdonald, Mike A Wallace and Mike E J Lean in Nutrition and Health
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- 2020
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19. Additional file 4 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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Additional file 4. Comparison of the sample distribution of each DV and predicted values following the reallocation of time from ST to LIPA.
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- 2020
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20. Additional file 1 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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Additional file 1. Data flow chart and covariates.
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- 2020
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21. Additional file 5 of Compositional analysis of the associations between 24-h movement behaviours and cardio-metabolic risk factors in overweight and obese adults with pre-diabetes from the PREVIEW study: cross-sectional baseline analysis
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Swindell, Nils, Rees, Paul, Fogelholm, Mikael, Drummen, Mathijs, MacDonald, Ian, J. Martinez, Navas-Carretero, Santiago, Handjieva-Darlenska, Teodora, Boyadjieva, Nadka, Bogdanov, Georgi, Poppitt, Sally, Gant, Nicholas, Silvestre, Marta, Brand-Miller, Jennie, Schlicht, Wolfgang, Muirhead, Roslyn, Brodie, Shannon, Tikkanen, Heikki, Jalo, Elli, Westerterp-Plantenga, Margriet, Adam, Tanja, Vestentoft, Pia, Larsen, Thomas, Raben, Anne, and Stratton, Gareth
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sense organs ,skin and connective tissue diseases - Abstract
Additional file 5. Asymmetry of predicted change in outcome variables.
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- 2020
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22. Characteristics and hydrocarbon seepage at the Challenger Knoll in the Sigsbee Basin, Gulf of Mexico
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Hsu, Chieh-Wei, MacDonald, Ian R., Römer, Miriam, Pape, Thomas, Sahling, Heiko, Wintersteller, Paul, and Bohrmann, Gerhard
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010504 meteorology & atmospheric sciences ,Geochemistry ,Drilling ,Environmental Science (miscellaneous) ,010502 geochemistry & geophysics ,Geotechnical Engineering and Engineering Geology ,Oceanography ,01 natural sciences ,Deep sea ,Seafloor spreading ,Salt tectonics ,chemistry.chemical_compound ,Water column ,chemistry ,Earth and Planetary Sciences (miscellaneous) ,Petroleum ,Bathymetry ,Surface water ,Geology ,0105 earth and related environmental sciences - Abstract
Active seafloor hydrocarbon seepage from three distinct, positive seafloor features, termed knolls, in the Sigsbee Knolls area, Gulf of Mexico (GOM), was investigated in March 2015. The study sites included the Challenger Knoll, which was drilled by the Deep Sea Drilling Program (DSDP) in 1969 and showed the influence of salt tectonics on its evolution and the presence of subsurface petroleum. This study used gas flare mapping in the water column, detailed seafloor bathymetry, backscatter mapping, sub-bottom profiling, and remote sensing of surface water to locate seafloor areas of hydrocarbon emissions. Flares of gas bubbles were detected in the water column above all three knolls, making them the deepest reported gas emission sites in the GOM. Although surface oil slicks above the Sigsbee Knolls have been detected by satellite imaging in the past; in this study, neither satellite imagery nor ship-based observations detected floating oil, this suggests that oil seepage in the region is intermittent. High-resolution video surveys of the seafloor at Challenger Knoll, using a camera system mounted on a lowered tow-vehicle, documented the presence of seep-related chemosynthetic fauna including clam fields and microbial mats at the western part of the knoll. These findings are consistent with previous investigations that link hydrocarbon seepage at Challenger Knoll to salt tectonics. During visual seafloor inspections, no asphalt deposits, such as those known from sites in the Campeche Knoll area in the southern GOM, were observed. These findings indicate that hydrocarbon seepage is less pronounced in the Sigsbee Knolls region, central GOM, than is the case in hydrocarbon systems in the northern or southern GOM.
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- 2019
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23. Macular spatial distribution of preserved autofluorescence in patients with choroideremia
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Hariri, Amir H, Ip, Michael S, Girach, Aniz, Lam, Byron L, Fischer, M Dominik, Sankila, Eeva-Marja, Pennesi, Mark Edward, Holz, Frank G, Maclaren, Robert E, Birch, David G, Hoyng, Carel B, MacDonald, Ian M, Black, Graeme C, Tsang, Stephen H, Bressler, Neil M, Stepien, Kimberly E, Larsen, Michael, Gorin, Michael B, Meunier, Isabelle, Webster, Andrew R, Sadda, SriniVas, and For Natural History of the Progression of Choroideremia (NIGHT) Study Group
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Fovea Centralis ,optical coherence tomography ,fundus autofluorescence ,Fundus Oculi ,Clinical Sciences ,Visual Acuity ,retinal pigment epithelium ,Neurodegenerative ,Ophthalmology & Optometry ,Multimodal Imaging ,preserved autofluorescence ,Optical Coherence ,Clinical Research ,Opthalmology and Optometry ,For Natural History of the Progression of Choroideremia (NIGHT) Study Group ,Public Health and Health Services ,Humans ,Fluorescein Angiography ,ellipsoid zone ,Tomography ,Choroideremia - Abstract
Background/aimsTo better understand the pattern of degeneration progression in cases with choroideremia.MethodsA cohort of genotypically confirmed choroideremia cases who underwent optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging was studied. Using HEYEX review software, the foveal centre was marked on FAF images under guidance of corresponding OCT images, followed by application of an ETDRS grid. The boundaries of preserved autofluorescence (AF) were manually segmented in each individual ETDRS subfield. The regional distribution of preserved AF was assessed by comparing its area among the various subfields.ResultsA total of 168 eyes from 84 choroideremia cases were enrolled. There was a statistically significant difference in the amount of preserved AF area between inner subfields as determined by one-way analysis of variance (F (3,668)=9.997, p
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- 2019
24. DS_DISC849838 – Supplemental material for Pathway-Based High-Throughput Chemical Screen Identifies Compounds That Decouple Heterochromatin Transformations
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MacDonald, Ian A., Butler, Kyle V., Herring, Laura E., Clinkscales, Sarah E., Yelagandula, Ramesh, Stecher, Karin, Bell, Oliver, Graves, Lee M., Jin, Jian, and Hathaway, Nathaniel A.
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FOS: Clinical medicine ,111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified - Abstract
Supplemental material, DS_DISC849838 for Pathway-Based High-Throughput Chemical Screen Identifies Compounds That Decouple Heterochromatin Transformations by Ian A. MacDonald, Kyle V. Butler, Laura E. Herring, Sarah E. Clinkscales, Ramesh Yelagandula, Karin Stecher, Oliver Bell, Lee M. Graves, Jian Jin and Nathaniel A. Hathaway in SLAS Discovery
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- 2019
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25. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia
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Hariri, Amir H., Velaga, Swetha B., Girach, Aniz, Ip, Michael S., Le, Phuc V., Lam, Byron L., Fischer, M. Dominik, Sankila, Eeva-Marja, Pennesi, Mark E., Holz, Frank G., Maclaren, Robert E., Birch, David G., Hoyng, Carel B., Macdonald, Ian M., Black, Graeme C., Tsang, Stephen H., Bressler, Neil M., Larsen, Michael, Gorin, Michael B., Webster, Andrew R., Sadda, Srinivas R., Nat Hist Progression Choroideremia, University of Helsinki, Clinicum, Silmäklinikka, Department of Ophthalmology and Otorhinolaryngology, and HUS Head and Neck Center
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0301 basic medicine ,Male ,medicine.medical_specialty ,OPTICAL COHERENCE TOMOGRAPHY ,Visual acuity ,genetic structures ,Intraclass correlation ,Fundus Oculi ,Visual Acuity ,Retinal Pigment Epithelium ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Choroideremia ,03 medical and health sciences ,0302 clinical medicine ,Optical coherence tomography ,Ophthalmology ,medicine ,Humans ,3125 Otorhinolaryngology, ophthalmology ,Fluorescein Angiography ,Aged ,Reproducibility ,Retinal pigment epithelium ,medicine.diagnostic_test ,MUTATIONS ,business.industry ,Reproducibility of Results ,SUBANALYSIS ,DEGENERATION ,Middle Aged ,medicine.disease ,GENE ,eye diseases ,Ophthalmoscopy ,Autofluorescence ,030104 developmental biology ,medicine.anatomical_structure ,Multicenter study ,030221 ophthalmology & optometry ,Female ,sense organs ,CHM ,medicine.symptom ,business ,Tomography, Optical Coherence - Abstract
PURPOSE: To identify valid and reproducible methods for quantifying anatomic outcome measures for eyes with choroideremia (CHM) in clinical trials. DESIGN: Reliability analysis study. METHODS: In this multicenter study, patients with confirmed genetic diagnosis of CHM were enrolled. All cases underwent spectral-domain optical coherence tomography (SDOCT) and fundus autofluorescence (FAF) imaging. Two graders independently delineated boundaries of preserved autofluorescence (PAF) and pre-served ellipsoid zone (EZ) on FAF and OCT images, respectively. The results of the 2 independent gradings of both FAF and OCT images were compared to assess the reproducibility of the grading methods. RESULTS: A total of 148 eyes from 75 cases were included. In 21% of eyes PAF and in 43% of eyes preserved EZ had extended beyond the image capture area. After exclusion of these eyes and low-quality images, 114 FAF and 77 OCT images were graded. The mean PAF areas from 2 independent gradings were 3.720 +/- 3.340 mm(2) and 3.692 +/- 3.253 mm2, respectively. Intraclass correlation coefficient (ICC) for these gradings was 0.996. The mean preserved EZ areas from 2 independent gradings were 2.746 +/- 2.319 mm2 and 2.858 2.446 mm2, respectively. ICC for these gradings was 0.991. CONCLUSIONS: Quantifying preserved retinal pigment epithelium and EZ areas on FAF and OCT images, respectively, in CHM patients is highly reproducible. These variables would be potential anatomic outcome measures for CHM clinical trials and could be studied and tracked longitudinally in choroideremia. (C) 2017 Elsevier Inc. All rights reserved.
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- 2017
26. 2014 Mesophotic Cruise Report NOAA NRDA Mesophotic Reefs Technical Working Group
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Etnoyer, Peter J., Randall, Michael, Sulak, Ken, and MacDonald, Ian
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- 2015
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27. Alter-Africas: Science Fiction and the Post-Colonial Black African Novel
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MacDonald, Ian P.
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Science fiction ,Comparative literature ,African literature ,Postcolonialism in literature - Abstract
This project investigates the emergence of near-future fiction in the post-colonial African novel. Analyzing The Rape of Shavi (1983) by Buchi Emecheta, Osiris Rising (1995) by Ayi Kwei Armah, Wizard of the Crow (2006) by Ngugi wa Thiong'o, and Big Bishop Roko and the Altar Gangsters (2006) by B. Kojo Laing, I gauge the impact of African science fiction (sf) on issues of historicity, economics, statism and localized identities and how these have adapted or are adapting to an increasingly globalized and technophilic world. Identifying sf's roots in the European travelogue, I attend to the way each author codes technology in the text and the manners in which technophilic spaces exacerbate or ease the frequent tension between modernity and tradition in African literature. By reading these works against novels by, among others, Thomas Pynchon, Ishmael Reed, Robert Heinlein, and Chinua Achebe, I conclude that recent developments in the African sf novel offer a compelling critique on the genre's colonial heritage and have progressively indigenized sf by wedding it to local traditions of orature and myth. While Black African sf production has been historically overlooked in literary studies, it is important to revisit early moves in the direction of African near-future fiction in order to contextualize the rising interest in the genre on the part of African authors.
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- 2014
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28. An Evaluation of Self-governance in the New Zealand Bluff Oyster Fishery – The Indicator System Approach@
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Yang, Yuwen, Cullen, Ross, Hearnshaw, Edward, and MacDonald, Ian
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Demand and Price Analysis, Environmental Economics and Policy, Food Consumption/Nutrition/Food Safety, Land Economics/Use, Production Economics, Productivity Analysis, Research and Development/Tech Change/Emerging Technologies, Research Methods/ Statistical Methods, Resource /Energy Economics and Policy - Published
- 2013
29. Hypergeometric Functions I
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Macdonald, Ian G.
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Mathematics - Classical Analysis and ODEs ,Classical Analysis and ODEs (math.CA) ,FOS: Mathematics ,Mathematics - Combinatorics ,Combinatorics (math.CO) - Abstract
This is the typewritten version of a handwritten manuscript which was completed by Ian G. Macdonald in 1987 or 1988. The manuscript is a very informal working paper, never intended for formal publication. Nevertheless, copies of the manuscript have circulated widely, giving rise to quite a few citations in the subsequent 25 years. Therefore it seems justified to make the manuscript available for the whole mathematical community. The author kindly gave his permission that a typewritten version be posted on arXiv., Comment: 63 pages
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- 2013
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30. A Portable Optical CT Scanner for Interactive Teaching of Medical Imaging Principles
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Battista, Jerry, Taylor, Reggie, Jordan, Kevin, Miller, John, and MacDonald, Ian
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Medical Imaging ,Medical Physics ,Teaching ,education ,ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION ,Computed Tomography (CT) ,Labs ,Education Technologies and Innovative Resources - Abstract
Computed Tomography (CT) is widely used as a diagnostic imaging tool in modern medicine. The traditional method of teaching CT principles involves classroom lectures, with demonstrations on a clinical system that can only be accessed during off-hours. The x-ray and ‘black-box’ nature of a clinical system, and the lag time between lectures and demonstrations severely limit the teaching efficiency. A scaled-down portable imaging system that does not use x-rays would be ideal for an interactive classroom or laboratory session. We therefore developed a system using visible light rays instead of x-rays, so that experiments can be conducted immediately and safely with no high-voltage or radiation hazards. Educators at the University of Western Ontario will collaborate with industry to manufacture the scanner (http://www.deskcat.com/) to meet educational objectives, such as those specified by the Commission on the Accreditation of Medical Physics Education Programs (CAMPEP). The table-top CT imaging device will come with a “kit” of experimental modules and specialized software that demonstrate radiography and CT image reconstruction. Image quality is characterized by 'live' measurements of spatial resolution, contrast resolution, and optical attenuation coefficients using plastic specimens or liquids. We expect that a low-cost portable system (< $15,000 CDN) will enrich the students' learning experience and improve the long-term retention of fundamental imaging concepts. This teaching package should prove attractive to universities with Physics, Biophysics, or Biomedical Engineering Departments, as well as Medical Schools with residency training programs (Radiology, Nuclear Medicine, Medical Imaging, Radiation Oncology). The scanner will be demonstrated at the poster.
- Published
- 2011
31. Adenyl cyclase and 3',5'-amp phosphodiesterase from bovine brain: a direct chemical assay
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Macdonald, Ian A.
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Biology, General - Published
- 2009
- Full Text
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32. How Important is Reputation for New Zealand Wine Makers?
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Bicknell, Kathryn and MacDonald, Ian
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Hedonic pricing, New Zealand wine, willingness to pay, quality, reputation, Agribusiness, Agricultural and Food Policy, Crop Production/Industries - Abstract
The wine industry in New Zealand has been maturing over the past few decades, with consumers becoming more sophisticated and wineries responding by increasing their production of premium varieties. In addition, there have been several legal changes and subsequent changes to the distribution and marketing of wine in New Zealand that have made wine more widely available. It is therefore an interesting and dynamic time to gain a more comprehensive understanding of the relative effects of regional reputation and producer-specific quality on the willingness to pay for domestically produced premium table wine in New Zealand. Previous empirical work suggests that New Zealand consumers rely on both expert opinion and regional reputation when determining their willingness to pay for wine produced domestically. The current paper extends this work by considering the development of a winery's reputation in more detail. Hedonic price analysis is used to determine the price premia associated with a range of indicators of both individual and collective reputation. Preliminary statistical results are presented and interpreted within the context of a growing body of international literature on wine economics.
- Published
- 2009
33. Who are Controlling Community Forestry User Groups in Nepal? Scrutiny of Elite Theory
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Yadav, Bhagwan Dutta, Bigsby, Hugh R., and MacDonald, Ian
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Social structure, leadership, caste, community forestry, decision making, Community/Rural/Urban Development, Environmental Economics and Policy, Political Economy - Abstract
Nepal has established community forestry institutions to manage natural resources at the local community level under the assumption that there will be better management than under Government agencies. However, community forestry has not been entirely successful as it has not addressed the needs of poor and marginalised groups. The main goal of this study is to examine how Nepalese social structure guides the structure of the Executive Committee (EC) of Community Forestry User Groups and in particular, whether the EC is dominated by elite groups that could in turn hinder the needs of poor and marginalised groups. This paper uses data from the middle hill district of Baglung, Nepal. Statistical analysis indicates that decision-making is dominated by the local elite, who are typically from higher castes, have larger land holdings, and have a higher income. The empirical results are expected to suggest policy makers design program for empowering people of low caste, poor and lower socio-economic status to create opportunity to be involved in decision making in order to have equal or need based benefits acquired by CF.
- Published
- 2008
34. Threats from Illegal Logging
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MacDonald, Ian
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Resource /Energy Economics and Policy, Risk and Uncertainty - Published
- 2005
35. Threats from Illegal Fishing
- Author
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MacDonald, Ian
- Subjects
Resource /Energy Economics and Policy - Abstract
Before I start my presentation on the very important subject of illegal fishing, I do want to congratulate Dr Meryl Williams on her appointment to the Chair of the Board of Management of the Australian Centre for International Agricultural Research and President of its Policy Advisory Council. I am very pleased to note that for the first time we have in the position someone who does have a very distinguished background in fisheries. I also am delighted to have someone there who lived in the same small country town as I did in Queensland. Fish, fisheries, fisheries management, oceans and seas are particularly important for a country like Australia where our marine jurisdiction is about twice the size of the nation’s landmass. One of the major differences between the Australian fisheries and those of many other counties is that our marine jurisdictions don’t enjoy the same level of productivity as many others around the world, due to the lack of significant upwelling of cold water. Thankfully, however, we do have one of the world’s best fisheries management regimes. Fish is a very important, healthy food throughout the world, and particularly in those parts that are developing or facing severe food deprivation. Forty percent of the world’s population, or about 2.4 billion people, rely on seafood as their primary source of protein. As this conference clearly illustrates, global fish stocks are under threat, and so too is food security for these 2.4 billion people. The threat to the future of fish as food comes from many sources, but one of the most insidious is illegal, unregulated and unreported fishing — IUU fishing — on an industrial scale. This principally occurs on the high seas and in the remoter oceans of the world, where the coastal state simply does not have the resources, the money or the political will to address the problem. In our sphere of influence, however, IUU fishing is being attacked. Our fight against it focuses on marine border incursions.
- Published
- 2004
36. The Importance of Pre-commitment in International Environmental Agreements
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MacDonald, Ian
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game theory, international environmental agreements, pre-commitment., Environmental Economics and Policy, International Relations/Trade - Abstract
In the face of transboundary pollution externalities, cooperation in regulatory efforts between countries is required to move the economy towards the efficient outcome. Existing research in this field concludes that such cooperation is unlikely to occur because of the free-rider problem. This paper introduces the institution of international treaties and shows that a cooperative outcome supported by a treaty is sustainable. One effective treaty structure requires countries to reduce their pollution levels by a common percentage from the non-cooperative benchmark level, but only if all countries sign it. Under such a treaty arrangement, welfare improvements are generally significant.
- Published
- 2001
37. Orthogonal polynomials associated with root systems
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Macdonald, Ian G.
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Mathematics - Classical Analysis and ODEs ,Mathematics - Quantum Algebra ,Classical Analysis and ODEs (math.CA) ,FOS: Mathematics ,Mathematics - Combinatorics ,Quantum Algebra (math.QA) ,Combinatorics (math.CO) - Abstract
Let R and S be two irreducible root systems spanning the same vector space and having the same Weyl group W, such that S (but not necessarily R) is reduced. For each such pair (R,S) we construct a family of W-invariant orthogonal polynomials in several variables, whose coefficients are rational functions of parameters $q,t_1,t_2,...,t_r$, where r (=1,2 or 3) is the number of W-orbits in R. For particular values of these parameters, these polynomials give the values of zonal spherical functions on real and p-adic symmetric spaces. Also when R=S is of type $A_n$, they conincide with the symmetric polynomials described in I. G. Macdonald, Symmetric Functions and Hall Polynomials, 2nd edition, Oxford University Press (1995), Chapter VI., Comment: 40 pages, AmS-TeX. This is the 1987 preprint of the same title that has been circulated privately only as a handwritten manuscript. It has now been typed and published in the S\'eminaire Lotharingien de Combinatoire
- Published
- 2000
- Full Text
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38. In situ growth of the vestimentiferan Ridgeia piscesae living in highly diffuse flow environments in the main Endeavour Segment of the Juan de Fuca Ridge
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URCUYO, Istvan A., MASSOTH, Gary J., MACDONALD, Ian R., and FISHER, Charles R.
- Published
- 1998
- Full Text
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39. Habitat formation at Gulf of Mexico hydrocarbon seeps
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MACDONALD, Ian R.
- Published
- 1998
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40. Fatal Postpartum Coronary Artery Dissection
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Warwick MacDonald Ian Smeeton, Martin Sage, and Timothy D. Koelmeyer
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Adult ,medicine.medical_specialty ,Coronary Disease ,Dissection (medical) ,Pathology and Forensic Medicine ,law.invention ,Pregnancy ,law ,Adventitia ,Internal medicine ,Eosinophilic ,medicine ,Humans ,Artery dissection ,business.industry ,Postpartum Period ,Spontaneous dissection ,Ischemic injury ,medicine.disease ,Coronary Vessels ,Coronary arteries ,Aortic Dissection ,Microscopy, Electron ,medicine.anatomical_structure ,Microscopy, Electron, Scanning ,Cardiology ,Female ,Electron microscope ,business - Abstract
A case report of fatal spontaneous dissection of the distal left circumflex coronary artery in a 37-year-old postpartum female is presented. Samples of arterial wall from this patient and from six other postpartum females who died of unrelated causes were examined by light (LM), scanning electron (SEM), and transmission electron (TEM) microscopy. Morphological changes to explain the recognized predisposition of this cohort to coronary artery dissection were sought. The origin of the dissection was demonstrated by serial LM sections to be in midmedia with no intimal extension. The predominant plane of dissection was the junction of media and adventitia. Sarcolemmal blebbing and accumulation of amorphous intercellular material were demonstrated at the dissection site by SEM but were not seen elsewhere in the affected heart or in any of the six control hearts. These changes could not be distinguished by TEM from prolonged ischemic injury. There was no accumulation of eosinophilic leukocytes in the vessel wall or adventitia, and adventitial mast cells were not consistently more frequent than in the controls. No increase of stainable intramural mucopolysaccharides was seen in the fatal case. The results indicated no generalized arterial change in postpartum coronary arteries to account for the increased frequency of dissection. A focal degenerative process remains the most likely possibility.
- Published
- 1986
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41. Oxygenase activity of some perosidase enzyme systems
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MacDonald, Ian David.
- Published
- 1989
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42. A Case of Hysterectomy for Cancer of the Uterus, Coexisting With Pregnancy
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Macdonald, Ian and Mackay, W. A.
- Abstract
n/a
- Published
- 1904
43. A Case of Gastric Tetany; Gastroenterostomy; Recovery
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Mackay, WilliamA and Macdonald, Ian
- Abstract
n/a
- Published
- 1905
44. A Case of Acute Torsion of a Wandering Spleen; Splenec- Tomy; Recovery
- Author
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Macdonald, Ian and Mackay, W. A.
- Abstract
n/a
- Published
- 1909
45. The Theme of Childhood in Selected Writings of Arthur Rimbaud
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MacDonald, Ian Douglas, Patrick, A. W., and Romance Languages
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Other Languages, Societies, and Cultures ,Romance Languages - Abstract
A discussion of the theme of childhood in Rimbaud's work, along with an exploration into the many reasons for the transformation of this theme from a confident vision of the future in his early poetry, through a brief time of happy fulfillment, to a nostalgic memory of an idealized past in his later writings. Master of Arts (MA)
- Published
- 1970
46. Treatment of superficial burns by picric acid solution: a study in repair
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MacDonald, Ian
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Annexe Thesis Digitisation Project 2017 Block 14 - Published
- 1898
47. Studies on host-parasite relationships of the larval stages of Hymenolepidid tapeworms
- Author
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MacDonald, Ian George
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KB thesis scanning project 2015 - Published
- 1969
48. Impaired fat-induced thermogenesis in obese subjects: The NUGENOB study
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Blaak, Ellen, Hul, Gabby, Verdich, Camilla, Stich, Vladimir, Martinez, J Alfredo, Petersen, Martin, Feskens, Edith, Patel, Kishor, Oppert, Jean-Michel, Barbe, Pierre, Toubro, Søren, Polák, Jan, Anderson, Ingalena, Astrup, Arne, Macdonald, Ian, Langin, Dominique, Sørensen, Thorkild, Saris, Wim, Consortium, Nugenob, Department of Human Biology (NUTRIM), Nutrition and Toxicology Research Institute Maastricht, Institute of Preventive Medicine, Copenhagen University Hospital, Department of Sports Medicine, Centre of Preventive Medicine, Third Faculty of Medicine Charles University, Department of Physiology and Nutrition, Universidad de Navarra [Pamplona] (UNAV), Institute of Human Nutrition, Royal Veterinary and Agricultural University = Kongelige Veterinær- og Landbohøjskole (KVL ), Division of Human Nutrition, Wageningen University and Research [Wageningen] (WUR), School of Biomedical Sciences, Queens Medical Centre, University of Nottingham Medical School, Service de nutrition, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital de l'Hôtel-Dieu, Unité de recherche sur les obésités, IFR 31 Louis Bugnard (IFR 31), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of medicine [Stockholm], Karolinska Institutet [Stockholm]-Karolinska University Hospital [Stockholm], Humane Biologie, Epidemiologie, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, RS: NUTRIM - R1 - Metabolic Syndrome, Simon, Marie Francoise, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
Male ,Nutrition and Disease ,Hydrocortisone ,Endocrinology, Diabetes and Metabolism ,Medicine (miscellaneous) ,Fatty Acids, Nonesterified ,adipose-tissue ,Body Mass Index ,0302 clinical medicine ,Endocrinology ,Voeding en Ziekte ,Adipocytes ,Medicine ,Insulin ,MESH: Obesity ,MESH: Thermogenesis ,physical-activity ,2. Zero hunger ,0303 health sciences ,MESH: Fatty Acids, Nonesterified ,Nutrition and Dietetics ,MESH: Middle Aged ,MESH: Energy Metabolism ,postprandial thermogenesis ,Thermogenesis ,Middle Aged ,Postprandial Period ,MESH: Hydrocortisone ,MESH: Basal Metabolism ,Postprandial ,growth-hormone ,MESH: Postprandial Period ,Female ,medicine.symptom ,Adult ,MESH: Triglycerides ,medicine.medical_specialty ,resting metabolic-rate ,weight-gain ,030209 endocrinology & metabolism ,MESH: Insulin ,MESH: Body Mass Index ,insulin-resistance ,03 medical and health sciences ,Insulin resistance ,Internal medicine ,sympathetic neural activation ,Humans ,Resting energy expenditure ,Obesity ,Triglycerides ,MESH: Adipocytes ,030304 developmental biology ,VLAG ,MESH: Humans ,business.industry ,food ,energy-expenditure ,MESH: Adult ,medicine.disease ,MESH: Male ,Basal metabolic rate ,Basal Metabolism ,business ,Energy Metabolism ,Body mass index ,Weight gain ,MESH: Female - Abstract
International audience; OBJECTIVES: To study energy expenditure before and 3 hours after a high-fat load in a large cohort of obese subjects (n = 701) and a lean reference group (n = 113). RESEARCH METHODS AND PROCEDURES: Subjects from seven European countries underwent a 1-day clinical study with a liquid test meal challenge containing 95% fat (energy content was 50% of estimated resting energy expenditure). Fasting and 3-hour postprandial energy expenditures, as well as metabolites and hormones, were determined. RESULTS: Obese subjects had a reduced postprandial energy expenditure after the high-fat load, independent of body composition, age, sex, research center, and resting energy expenditure, whereas within the obese group, thermogenesis increased again with increasing BMI category. Additionally, insulin resistance, habitual physical activity, postprandial plasma triacylglycerols, and insulin were all independently positively related to the postprandial energy expenditure. Resting energy expenditure, adjusted for fat-free mass, increased with degree of obesity, a difference that disappeared after adjustment for fat mass. Furthermore, insulin resistance, fasting plasma free fatty acids, and cortisol were positively associated, whereas fasting plasma leptin and insulin-like growth factor-1 were negatively associated, with resting energy expenditure. DISCUSSION: The 3-hour fat-induced thermogenic response is reduced in obesity. It remains to be determined whether this blunted thermogenic response is a contributory factor or an adaptive response to the obese state.
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49. Children must be protected from the tobacco industry's marketing tactics
- Author
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Hopkinson, Nicholas, Wallis, Colin, Higgins, Bernard, Gaduzo, Stephen, Sherrington, Rebecca, Keilty, Sarah, Stern, Myra, Britton, John, Bush, Andrew, Moxham, John, Sylvester, Karl, Griffiths, Valerie, Sutherland, Tim, Crossingham, Iain, Raju, Raghu, Spencer, Charlotte, Safavi, Shahideh, Deegan, Paul, Seymour, John, Hickman, Katherine, Hughes, John, Wieboldt, Jason, Shaheen, Fizah, Peedell, Clive, Mackenzie, Nesta, Nicholl, David, Jolley, Caroline, Crooks, Gillian, Dow, Claire, Deveson, Pete, Bintcliffe, Oliver, Gray, Barry, Kumar, Sanjay, Haney, Sarah, Docherty, Marianne, Thomas, Angela, Chua, Felix, Dwarakanath, Akshay, Summers, Geoffrey, Prowse, Keith, Lytton, Stephen, Ong, Yee Ean, Graves, Jennifer, Banerjee, Tushar, English, Peter, Leonard, Andrew, Brunet, Martin, Chaudhry, Nauman, Ketchell, Robert Ian, Cummings, Natalie, Lebus, Jenny, Sharp, Charles, Meadows, Chris, Harle, Amelie, Stewart, Tara, Parry, Diane, Templeton-Wright, Suzanne, Moore-Gillon, John, Stratford- Martin, James, Saini, Sarvesh, Matusiewicz, Simon, Merritt, Simon, Dowson, Lee, Satkunam, Karnan, Hodgson, Luke, Suh, Eui-Sik, Durrington, Hannah, Browne, Emma, Walters, Nicola, Steier, Joerg, Barry, Simon, Griffiths, Mark, Hart, Nicholas, Nikolic, Marko, Berry, Matthew, Thomas, Ajit, Miller, Joy, McNicholl, Diarmuid, Marsden, Paul, Warwick, Geoffrey, Barr, Laura, Adeboyeku, David, Mohd Noh, Mohd Shahrin, Griffiths, Paul, Davies, Lisa, Quint, Jennifer, Lyall, Rebecca, Shribman, Jonathan, Collins, Andrea, Goldman, Jon, Bloch, Susannah, Gill, Alison, Man, William, Christopher, Anne, Yasso, Razouqi, Rajhan, Ashwin, Shrikrishna, Dinesh, Moore, Caroline, Absalom, Gareth, Booton, Richard, Fowler, Robert William, Mackinlay, Carolyn, Sapey, Elizabeth, Lock, Sara, Walker, Paul, Jha, Akhilesh, Satia, Imran, Bradley, Bethia, Mustfa, Naveed, Haqqee, Raana, Thomas, Matt, Patel, Anant, Redington, Anthony, Pillai, Anilkumar, Keaney, Niall, Fowler, Stephen, Lowe, Lesley, Brennan, Amanda, Morrison, Douglas, Murray, Clare, Hankinson, Jenny, Dutta, P, Maddocks, Matthew, Pengo, Martino, Curtis, Katrina, Rafferty, Gerrard, Hutchinson, John, Whitfield, Ruth, Turner, Steve, Breen, Ronan, Naveed, Shams-un-nisa, Goode, Chris, Esterbrook, Georgina, Ahmed, Liju, Walker, Woolf, Ford, David, Connett, Gary, Davidson, Philip, Elston, Will, Stanton, Andrew, Morgan, David, Myerson, James, Maxwell, David, Harrris, Ann, Parmar, Sonia, Houghton, Catherine, Winter, Robert, Puthucheary, Zudin, Thomson, Fiona, Sturney, Sharon, Harvey, John, Haslam, Patricia L, Patel, Irem, Jennings, David, Range, Simon, Mallia-Milanes, Brendan, Collett, Anne, Tate, Paul, Russell, Richard, Feary, Johanna, O'Driscoll, Ronan, Eaden, James, Round, Jonathan, Sharkey, Emma, Montgomery, Mary, Vaughan, Sophie, Scheele, Kate, Lithgow, Anna, Partridge, Samuel, Chavasse, Richard, Restrick, Louise, Agrawal, Sanjay, Abdallah, Said, Lacy-Colson, Amruta, Adams, Nick, Mitchell, Sally, Haja Mydin, Helmy, Ward, Ann, Denniston, Sarah, Steel, Mark, Ghosh, Dipansu, Connellan, Stephen, Rigge, Lucy, Williams, Ruth, Grove, Alison, Anwar, Sadia, Dobson, Lee, Hosker, Harold, Stableforth, David, Greening, Neil, Howell, Tim, Casswell, Georgina, Davies, Sarah, Tunnicliffe, Georgia, Mitchelmore, Philip, Phitidis, Elpida, Robinson, Louise, Bafadhel, Mona, Robinson, Grace, Boland, Alison, Lipman, Marc, Bourke, Stephen, Kaul, Sundeep, Cowie, Calvin, Forrest, Ian, Starren, Elizabeth, Burke, Hannah, Furness, John, Bhowmik, Angshu, Everett, Caroline, Seaton, Douglas, Holmes, Steve, Doe, Simon, Parker, Samuel, Graham, Annika, Paterson, Ian, Maqsood, Usman, Ohri, Chandra, Iles, Peter, Kemp, Samuel, Iftikhar, Ahsan, Carlin, Chris, Fletcher, Tim, Emerson, Peter, Beasley, Victoria, Ramsay, Michelle, Buttery, Robert, Mungall, Sarah, Crooks, Stephen, Ridyard, John, Ross, David, Guadagno, Alison, Holden, Emma, Coutts, Ian, Cullen, Kathy, O'Connor, Sally, Barker, Jack, Sloper, Katherine, Watson, John, Smith, Peter, Anderson, Paul, Brown, Louise, Nyman, Cyril, Milburn, Heather, Clive, Amelia, Serlin, Matthew, Bolton, Charlotte, Fuld, Jonathan, Powell, Helen, Dayer, Mark, Woolhouse, Ian, Georgiadi, Adamantia, Leonard, Helen, Dodd, James, Campbell, Ian, Ruiz, Gary, Zurek, Andrew, Paton, James Y, Malin, Adam, Wood, Fraser, Hynes, Gareth, Connell, David, Spencer, David, Brown, Sarah, Smith, David, Cooper, David, O'Kane, Cecilia, Hicks, Alex, Creagh-Brown, Ben, Lordan, James, Nickol, Annabel, Primhak, Robert, Fleming, Louise, Powrie, Duncan, Brown, Joanna, Zoumot, Zaid, Elkin, Sarah, Szram, Joanna, Scaffardi, Anthony, Marshall, Robert, Macdonald, Ian, Lightbody, Darren, Farmer, Ray, Wheatley, Iain, Radnan, Paul, Lane, Ian, Booth, Andrew, Tilbrook, Sean, Capstick, Toby, Hewitt, Lee, McHugh, Martin, Nelson, Christopher, Wilson, Patrick, Padmanaban, Vijay, White, John, Davison, John, O'Callaghan, Una, Hodson, Matthew, Edwards, John, Campbell, Colin, Ward, Simon, Wooler, Edwina, Ringrose, Elizabeth, Bridges, Diana, Matthew Hodson, John Edwards, Colin Campbell, Simon Ward, Edwina Wooler, Elizabeth Ringrose, Diana Bridges, Rosalind Backham, Kim Randall, Tracey Mathieson, Long, Alex, Parkes, Marilyn, Clarke, Sarah, Allen, Bev, Connelly, Carol, Forster, Georgia, Hoadley, Jacky, Martin, Katharine, Barnham, Kate, Khan, Katie, Munday, Maureen, Edwards, Catherine, O'Hara, Doreen, Turner, Sally, Pieri-Davies, Sue, Ford, Kate, Daniels, Tracey, Wright, Joanne, Towns, Rebecca, Fern, Karen, Butcher, Jane, Burgin, Karen, Winter, Barbara, Freeman, Debbie, Olive, Sandra, Gray, Linda, Pye, Kathy, Roots, Debbie, Cox, Nicola, Davies, Carol-Anne, Wicker, Jacquelyne, Hilton, Kay, Lloyd, Jananee, MacBean, Vicky, Wood, Marion, Kowal, Julia, Downs, Janis, Ryan, Helen, Guyatt, Fran, Nicoll, Debby, Lyons, Elizabeth, Narasimhan, Divya, Rodman, Anne, Walmsley, Sandy, Newey, Alison, Buxton, Maria, Dewar, Maria, Cooper, Angela, Reilly, Jacqui, Lloyd, Julie, Macmillan, Alison Bennett, Olley, Amy, Voase, Nia, Martin, Sarah, McCarvill, Iona, Christensen, Anne, Agate, Rowan, Heslop, Karen, Timlett, Amber, Hailes, Karen, Davey, Claire, Pawulska, Barbara, Lane, Amber, Ioakim, Shona, Hough, Alexandra, Treharne, Jo, Jones, Helen, Winter-Burke, Alice, Miller, Lauren, Connolly, Bronwen, Bingham, Lyn, Fraser, Una, Bott, Julia, Johnston, Carol, Graham, Alison, Curry, Denise, Sumner, Helen, Costello, Carol Ann, Bartoszewicz, Charlotte, Badman, Ros, Williamson, Kathryn, Taylor, Amy, Purcell, Helen, Barnett, Emma, Molloy, Alanna, Crawfurd, Laura, Collins, Nicola, Monaghan, Valerie, Mir, Misbah, Lord, Victoria, Stocks, Janet, Edwards, Adrian, Greenhalgh, Trish, Lenney, Warren, McKee, Martin, McAuley, Danny, Majeed, Azeem, Cookson, John, Baker, Emma, Janes, Sam, Wedzicha, Wisia, Lomas Dean, David, Harrison, Brian, Davison, Tony, Calverley, Peter, Wilson, Robert, Stockley, Robert, Ayres, Jon, Gibson, John, Simpson, John, Burge, Sherwood, Warner, John, Thomson, Neil, Davies, Peter, Woodcock, Ashley, Woodhead, Mark, Spiro, Stephen, Ormerod, Lawrence, Bothamley, Graham, Partridge, Martyn, Shields, Michael, Montgomery, Hugh, Simonds, Anita, Barnes, Peter, Durham, Stephen, Malone, Sarah, Arabnia, Gilda, Olivier, Sharon, Gardiner, Karen, and Edwards, Sheila
- Subjects
Marketing ,Tobacco harm reduction ,Government ,Adolescent ,Health professionals ,business.industry ,MEDLINE ,Tobacco Industry ,Tobacco Products ,General Medicine ,Tobacco industry ,United Kingdom ,Lung disease ,Environmental health ,Tobacco in Alabama ,Product Packaging ,Humans ,Medicine ,Packaging and labeling ,Child ,business - Abstract
Every day in the UK, hundreds of children aged 11-15 years start smoking for the first time,1 2 and there is compelling evidence that children’s perceptions of cigarettes are influenced by branding.3 4 As health professionals working to prevent and treat lung disease caused by smoking, we welcome the government’s …
50. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
- Author
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Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin, Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, and Cremers, Frans P M
- Subjects
DEEP-INTRONIC VARIANTS ,Proband ,smMIP ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,ABCA4 ,RPE65 ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Macular Degeneration ,Exon ,0302 clinical medicine ,Missing heritability problem ,purl.org/becyt/ford/3.2 [https] ,Medicine and Health Sciences ,smMIPs ,MUTATION ,Genetics (clinical) ,Genetics ,variants ,0303 health sciences ,structural ,biology ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Genomics ,DYSTROPHY ,Pedigree ,3. Good health ,Stargardt disease ,MATERNAL UNIPARENTAL ISODISOMY ,purl.org/becyt/ford/3 [https] ,RETINAL ,CHROMOSOME-1 ,PATIENT ,STRUCTURAL VARIANTS ,Deep sequencing ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,deep-intronic variants ,REVEALS ,medicine ,Humans ,030304 developmental biology ,REPAIR ,deep-intronic variant ,structural variants ,medicine.disease ,GENE ,Introns ,Uniparental Isodisomy ,Mutation ,030221 ophthalmology & optometry ,biology.protein ,ATP-Binding Cassette Transporters ,Transcriptome - Abstract
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Methods: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. Results: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Conclusion: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases. Fil: Khan, Mubeen. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Cornelis, Stéphanie S.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Del Pozo Valero, Marta. Hospital Universitario Fundación Jiménez Díaz; España. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Whelan, Laura. Trinity College; Estados Unidos Fil: Runhart, Esmee H.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Mishra, Ketan. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Bults, Femke. Radboud University Nijmegen Medical Centre; Países Bajos Fil: AlSwaiti, Yahya. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: AlTalbishi, Alaa. St John of Jerusalem Eye Hospital Group; Palestina (ANP) Fil: De Baere, Elfride. University of Ghent; Bélgica Fil: Banfi, Sandro. Seconda Universita Degli Studi Di Napoli; Italia Fil: Banin, Eyal. The Hebrew University of Jerusalem; Israel Fil: Bauwens, Miriam. University of Ghent; Bélgica Fil: Ben Yosef, Tamar. The Ruth And Bruce Rappaport Faculty Of Medicine; Israel Fil: Boon, Camiel J. F.. Leiden University. Leiden University Medical Center; Países Bajos Fil: van den Born, L. Ingeborgh. Rotterdam Ophthalmic Institute; Países Bajos Fil: Defoort, Sabine. Universite Lille; Francia Fil: Devos, Aurore. Universite Lille; Francia Fil: Dockery, Adrian. Trinity College; Estados Unidos Fil: Dudakova, Lubica. Charles University and General University Hospital; República Checa Fil: Fakin, Ana. Charles University and General University Hospital; República Checa Fil: Farrar, G. Jane. Trinity College; Estados Unidos Fil: Ferraz Sallum, Juliana Maria. Universidade Federal de Sao Paulo; Brasil Fil: Fujinami, Kaoru. UCL Institute of Ophthalmology; Reino Unido Fil: Gilissen, Christian. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Glavac, Damjan. University of Ljubljana; Eslovenia Fil: Gorin, Michael B.. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: Greenberg, Jacquie. University of Cape Town; Sudáfrica Fil: Hayashi, Takaaki. The Jikei University School of Medicine; Japón Fil: Hettinga, Ymkje M.. Bartiméus Diagnostic Center for Complex Visual Disorders; Países Bajos Fil: Hoischen, Alexander. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hoyng, Carel B.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Hufendiek, Karsten. University Eye Hospital Hannover Medical School; Alemania Fil: Jägle, Herbert. University Regensburg; Alemania Fil: Kamakari, Smaragda. OMMA Ophthalmological Institute of Athens; Grecia Fil: Karali, Marianthi. Seconda Universita Degli Studi Di Napoli; Italia Fil: Kellner, Ulrich. No especifíca; Fil: Klaver, Caroline C. W.. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Kousal, Bohdan. Charles University and General University Hospital; República Checa Fil: Lamey, Tina M.. University of Western Australia; Australia Fil: MacDonald, Ian M.. University of Alberta; Canadá Fil: Matynia, Anna. University of California at Los Angeles. School of Medicine; Estados Unidos Fil: McLaren, Terri L.. University of Western Australia; Australia Fil: Mena, Marcela D.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Meunier, Isabelle. Université Montpellier II; Francia Fil: Miller, Rianne. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Newman, Hadas. Universitat Tel Aviv; Israel Fil: Ntozini, Buhle. University of Cape Town; Sudáfrica Fil: Oldak, Monika. No especifíca; Fil: Pieterse, Marc. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Podhajcer, Osvaldo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Puech, Bernard. Universite Lille; Francia Fil: Ramesar, Raj. University of Cape Town; Sudáfrica Fil: Rüther, Klaus. No especifíca; Fil: Salameh, Manar. No especifíca; Fil: Salles, Mariana Vallim. Universidade de Sao Paulo; Brasil Fil: Sharon, Dror. The Hebrew University of Jerusalem; Israel Fil: Simonelli, Francesca. Seconda Universita Degli Studi Di Napoli; Italia Fil: Spital, Georg. No especifíca; Fil: Steehouwer, Marloes. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Szaflik, Jacek P.. No especifíca; Fil: Thompson, Jennifer A.. No especifíca; Fil: Thuillier, Caroline. Universite Lille; Francia Fil: Tracewska, Anna M.. No especifíca; Fil: van Zweeden, Martine. Radboud University Nijmegen Medical Centre; Países Bajos Fil: Vincent, Andrea L.. University of Auckland; Nueva Zelanda Fil: Zanlonghi, Xavier. No especifíca; Fil: Liskova, Petra. Charles University and General University Hospital; República Checa Fil: Stöhr, Heidi. Universitat Regensburg; Alemania Fil: De Roach, John N.. University of Western Australia; Australia Fil: Ayuso, Carmen. Hospital Universitario Fundación Jiménez Díaz; España Fil: Roberts, Lisa. University of Cape Town; Sudáfrica Fil: Weber, Bernhard H. F.. Universitat Regensburg; Alemania Fil: Dhaenens, Claire Marie. Universite Lille; Francia Fil: Cremers, Frans P. M.. Radboud University Nijmegen Medical Centre; Países Bajos
- Published
- 2020
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