Search Results - John McDermott

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  1. 1
    Hypogonadism in Hereditary Hemochromatosis

    Hypogonadism in Hereditary Hemochromatosis by John McDermott, C. H. Walsh

    Published 2005
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  2. 2
    Contrast-Induced Acute Kidney Injury: Specialty-Specific Protocols for Interventional Radiology, Diagnostic Computed Tomography Radiology, and Interventional Cardiology

    Contrast-Induced Acute Kidney Injury: Specialty-Specific Protocols for Interventional Radiology, Diagnostic Computed Tomography Radiology, and Interventional Cardiology by Stanley Goldfarb, Peter A. McCullough, John McDermott, Spencer B. Gay

    Published 2009
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  3. 3
    Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review

    Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review by John McDermott, Stuart Wright, Videha Sharma, William G. Newman, Katherine Payne, Paul Wilson

    Published 2022
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  4. 4
    Greater social jetlag associates with higher HbA1c in adults with type 2 diabetes: a cross sectional study

    Greater social jetlag associates with higher HbA1c in adults with type 2 diabetes: a cross sectional study by Rachael M. Kelly, Jacinta Finn, Ultan Healy, Dervla Gallen, Séamus Sreenan, John McDermott, Andrew N. Coogan

    Published 2019
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  5. 5
    Barriers to exercise in obese patients with type 2 diabetes

    Barriers to exercise in obese patients with type 2 diabetes by Aoife M. Egan, Wan Aizad Wan Mahmood, Richard A. Fenton, N. Redziniak, Tommy Kyaw Tun, Séamus Sreenan, John McDermott

    Published 2013
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  6. 6
    The impact of machine learning on the prediction of diabetic foot ulcers – A systematic review

    The impact of machine learning on the prediction of diabetic foot ulcers – A systematic review by Teagan J. Weatherall, Pınar Avşar, Linda Nugent, Zena Moore, John McDermott, Séamus Sreenan, Hannah Wilson, Natalie McEvoy, Rosemarie Derwin, Paul Chadwick, Declan Patton

    Published 2024
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  7. 7
    Zoonosis emergence linked to agricultural intensification and environmental change

    Zoonosis emergence linked to agricultural intensification and environmental change by Bryony A. Jones, Delia Grace, Richard Kock, Silvia Alonso, Jonathan Rushton, Mohammed Y. Said, Declan J. McKeever, Florence Mutua, Jarrah Young, John McDermott, Dirk U. Pfeiffer

    Published 2013
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  8. 8
    Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on <i>MT‐RNR1</i> Genotype

    Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on <i>MT‐RNR1</i> Genotype by John McDermott, Joshua Wolf, Keito Hoshitsuki, Rachel Huddart, Kelly E. Caudle, Michelle Whirl‐Carrillo, Peter S. Steyger, Richard J. Smith, Neal Cody, Cristina Rodríguez‐Antona, Teri E. Klein, William G. Newman

    Published 2021
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  9. 9
    Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease

    Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease by Ana Sergijenko, Alex Langford-Smith, Ai Yin Liao, Claire E. Pickford, John McDermott, Gabriel Nowinski, Kia Langford‐Smith, Catherine L.R. Merry, Simon Jones, J. E. Wraith, Robert Wynn, Fiona L. Wilkinson, Brian Bigger

    Published 2013
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  10. 10
    Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

    Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy by Rebecca Holley, Stuart Ellison, Daniel Fil, Claire O’Leary, John McDermott, Nishanthi Senthivel, Alex Langford-Smith, Fiona L. Wilkinson, Zelpha D’Souza, Helen Parker, Aiyin Liao, Samuel Rowlston, Hélène F.E. Gleitz, Shih‐hsin Kan, Patricia Dickson, Brian Bigger

    Published 2017
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  11. 11
    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia by Frédéric M. Vaz, John McDermott, Mariëlle Alders, Saskia B. Wortmann, Stefan Kölker, Mia L. Pras‐Raves, Martin A. T. Vervaart, Henk van Lenthe, Angela C. M. Luyf, Hyung L. Elfrink, Kay Metcalfe, Sara Cuvertino, Peter Clayton, Rebecca Yarwood, Martin Lowe, Simon C. Lovell, Richard C. Rogers, Antoine H. C. van Kampen, Jos P.N. Ruiter, Ronald J. A. Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

    Published 2019
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  12. 12
    Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

    Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care by John McDermott, Ajit Mahaveer, Rachel James, Nicola Booth, M. Turner, Karen Harvey, Gino Miele, Glenda M. Beaman, Duncan Stoddard, Karen Tricker, Rachel Corry, Julia Garlick, Shaun Ainsworth, Thomas Beevers, Iain Bruce, Richard Body, Fiona Ulph, Rhona MacLeod, Peter Roberts, Paul Wilson, William G. Newman, Imelda Mayor, C. Darrell Jennings, Karen Dockery, Jenna Hill, Joanne Windrow, Patrick O. McGowan, Amy Ingham, Sarah Rushton, Poly Kirkilli, Suzanne Parsons, Ruth Gottstein, Ngozi Edi-Osagie, Christine Ashworth, Maxine Brandall, Kath Eaton

    Published 2022
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  13. 13
    Decomposing Oncogenic Transcriptional Signatures to Generate Maps of Divergent Cellular States

    Decomposing Oncogenic Transcriptional Signatures to Generate Maps of Divergent Cellular States by Jong Wook Kim, Omar O. Abudayyeh, Huwate Yeerna, Chen‐Hsiang Yeang, Michelle L. Stewart, Russell W. Jenkins, Shunsuke Kitajima, David J. Konieczkowski, Kate Medetgul-Ernar, Taylor B. Cavazos, Clarence K. Mah, Stephanie Ting, Eliezer M. Van Allen, Ofir Cohen, John McDermott, Emily Damato, Andrew J. Aguirre, Jonathan Liang, Arthur Liberzon, Gabriella Alexe, John G. Doench, Mahmoud Ghandi, Francisca Vázquez, Barbara A. Weir, Aviad Tsherniak, Aravind Subramanian, Karina Meneses-Cime, Jason Y. Park, Paul A. Clemons, Levi A. Garraway, David Thomas, Jesse S. Boehm, David A. Barbie, William C. Hahn, Jill P. Mesirov, Pablo Tamayo

    Published 2017
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  14. 14
    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, María J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaëtan Lesca, Gloria Leszinski, John McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina Mihaela Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

    Published 2019
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  15. 15
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder by Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Published 2024
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  16. 16
    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease by Matina Prapa, Mauro Lago‐Docampo, Emilia M. Swietlik, David Montani, Mélanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M.F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano Subías, Henning Gall, Barbara Girerd, Ignacio Hernández‐González, Simon Holden, David Hunt, Samara M.A. Jansen, Wilhelmina S. Kerstjens‐Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, Joanna Pepke‐Żaba, Gary Polwarth, Gwen Schotte, Jair Tenorio, A. A. Roger Thompson, John Wharton, Stephen J. Wort, Karyn Mégy, Rutendo Mapeta, Carmen Treacy, Jennifer M. Martin, Wei Li, Andrew J. Swift, Paul D. Upton, Nicholas W. Morrell, Stefan Gräf, Diana Valverde

    Published 2022
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  17. 17
    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics by Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka, Bader Alhaddad, Reza Asadollahi, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange‐Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert C. Day, Anne‐Sophie Denommé‐Pichon, Dave A. Dyment, Hartmut Engels, Rachel S. Fisher, Elaine Goh, M.J. Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Jessika Johannsen, Cornelia Kraus, Gwenaël Le Guyader, Gaëtan Lesca, Frédéric Tran Mau‐Them, John McDermott, Kirsty McWalter, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette G. Sadleir, Margarita Sáenz, Manuel Schiff, Elisabeth Schuler, Steffen Syrbe, Amelie T. van der Ven, Alain Verloès, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch

    Published 2020
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  18. 18
    Genetic basis of early onset and progression of type 2 diabetes in South Asians

    Genetic basis of early onset and progression of type 2 diabetes in South Asians by Sam Hodgson, Alice Williamson, Margherita Bigossi, Daniel Stow, Benjamin Meir Jacobs, Miriam Samuel, Joseph Gafton, Julia Zöllner, Marie Spreckley, Shaheen Akhtar, Ariadna González‐del Angel, Omar Asgar, Samina Ashraf, Saeed Bidi, Gerome Breen, James Broster, Raymond Chung, David Collier, Charles Curtis, Shabana Chaudhary, Grainne Colligan, Panos Deloukas, Ceri Durham, Faiza Durrani, Fabíola Eto, Joseph Gafton, Chris Griffiths, Joanne E. Harvey, Teng Heng, Qin Qin Huang, Karen A. Hunt, Matt Hurles, Shapna Hussain, Kamrul Islam, Vivek Iyer, Georgios Kalantzis, Ahsan Khan, Cath Lavery, Sang Hyuck Lee, Daniel G. MacArthur, Eamonn Maher, Daniel Malawsky, Sidra Malik, Hilary C. Martin, Dan Mason, Mohammed Bodrul Mazid, John McDermott, Caroline E Morton, William G. Newman, Vladimir Ovchinnikov, Elizabeth Owor, Iaroslav Popov, Asma Qureshi, Mehru Raza, Jessry Russell, Stuart Rison, Nishat Safa, Ayat Salman, Michael A. Simpson, John Solly, Michael D. Taylor, Richard C. Trembath, Karen Tricker, David A. van Heel, Klaudia Walter, Jan Whalley, Caroline Winckley, S. M. Wood, John Wright, Sabina Yasmin, Ishevanhu Zengeya, Claudia Langenberg, David A. van Heel, Rohini Mathur, Moneeza K. Siddiqui, Sarah Finer

    Published 2024
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  19. 19
    Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

    Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores by Timing Liu, Alagu Sankareswaran, Gordon Paterson, Shaheen Akhtar, Ariadna González‐del Angel, Omar Asgar, Samina Ashraf, Saeed Bidi, Gerome Breen, James Broster, Raymond Chung, David Collier, Charles Curtis, Shabana Chaudhary, Grainne Colligan, Panos Deloukas, Ceri Durham, Faiza Durrani, Fabíola Eto, Sarah Finer, Karen A. Hunt, Matt Hurles, Shapna Hussain, Kamrul Islam, Vivek Iyer, Benjamin Meir Jacobs, Georgios Kalantzis, Ahsan Khan, Claudia Langenberg, Cath Lavery, Sang Hyuck Lee, Daniel G. MacArthur, Eamonn Maher, Daniel Malawsky, Sidra Malik, Hilary C. Martin, Dan Mason, Rohini Mathur, Mohammed Bodrul Mazid, John McDermott, Caroline E Morton, William G. Newman, Vladimir Ovchinnikov, Elizabeth Owor, Iaroslav Popov, Asma Qureshi, Mehru Raza, Jessry Russell, Stuart Rison, Nishat Safa, Ayat Salman, Miriam Samuel, Moneeza K. Siddiqui, Michael A. Simpson, John Solly, Marie Spreckley, Daniel Stow, Michael D. Taylor, Richard C. Trembath, Karen Tricker, Klaudia Walter, Jan Whalley, Caroline Winckley, S. M. Wood, John Wright, Sabina Yasmin, Ishevanhu Zengeya, Julia Zöllner, Diane P. Fraser, Sam Hodgson, Qin Huang, Teng Hiang Heng, Meera Ladwa, Nicholas J. Thomas, David A. van Heel, Michael N. Weedon, Chittaranjan S. Yajnik, Richard A. Oram, Giriraj R. Chandak, Hilary C. Martin, Sarah Finer

    Published 2025
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