検索結果 - Laura Southgate

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  1. 1
    Insomnia and paranoia

    Insomnia and paranoia 著者: Daniel Freeman, Katherine Pugh, Natasha Vorontsova, Laura Southgate

    出版事項 2008
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  2. 2
    Molecular genetic framework underlying pulmonary arterial hypertension

    Molecular genetic framework underlying pulmonary arterial hypertension 著者: Laura Southgate, Rajiv D. Machado, Stefan Gräf, Nicholas W. Morrell

    出版事項 2019
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  3. 3
    Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

    Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension 著者: Elaine Soon, Alan Holmes, Carmen Treacy, Natalie Doughty, Laura Southgate, Rajiv D. Machado, Richard C. Trembath, Simon Jennings, Lucy Barker, Paul Nicklin, Christoph Walker, David C. Budd, Joanna Pepke‐Żaba, Nicholas W. Morrell

    出版事項 2010
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  4. 4
    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies 著者: Maja Sukalo, Felix Tilsen, Hülya Kayserili, Dietmar Müller, Beyhan Tüysüz, Deborah Ruddy, Emma Wakeling, Karen Helene Ørstavik, Katie Snape, Richard C. Trembath, Maryse De Smedt, Nathalie Van der Aa, Martin Skalej, Stefan Mundlos, Wim Wuyts, Laura Southgate, Martin Zenker

    出版事項 2015
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  5. 5
    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies 著者: Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Edward J. Taylor, Claire Collinson, Deborah Ruddy, Katie Snape, Bruno Dallapiccola, John Tolmie, Shelagh Joss, Francesco Brancati, M. Cristina Digilio, Luitgard Graul‐Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D. Machado, Richard C. Trembath

    出版事項 2015
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  6. 6
    Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

    Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension 著者: Anna Ulrich, John Wharton, Timothy E. Thayer, Emilia M. Swietlik, Tufik R. Assad, Ankit A. Desai, Stefan Gräf, Lars Harbaum, Marc Humbert, Nicholas W. Morrell, William C. Nichols, Florent Soubrier, Laura Southgate, David‐Alexandre Trégouët, Richard C. Trembath, Evan L. Brittain, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes

    出版事項 2019
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  7. 7
    Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

    Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies 著者: Laura Southgate, Rajiv D. Machado, Katie Snape, Martin Primeau, Dimitra Dafou, Deborah Ruddy, Peter Branney, Malcolm E Fisher, Grace J. Lee, Michael A. Simpson, Yi He, Teisha Y. Bradshaw, Bettina Blaumeiser, W S Winship, William Reardon, Eamonn R. Maher, David Fitzpatrick, Wim Wuyts, Martin Zenker, Nathalie Lamarche‐Vane, Richard C. Trembath

    出版事項 2011
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    Artigo
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  8. 8
    Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects 著者: Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca R. Viales, Ekkehard Grünig

    出版事項 2015
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  9. 9
    Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

    Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension 著者: Talat Nasim, Takeshi Ogo, Mohammad Ejaz Ahmed, Rebecca A. Randall, Hasnin M. Chowdhury, Katie Snape, Teisha Y. Bradshaw, Laura Southgate, Grace J. Lee, Ian Jackson, Graham M. Lord, J. Simon R. Gibbs, Martin R. Wilkins, Keiko Ohta‐Ogo, Kazufumi Nakamura, Barbara Girerd, Florence Coulet, Florent Soubrier, Marc Humbert, Nicholas W. Morrell, Richard C. Trembath, Rajiv D. Machado

    出版事項 2011
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  10. 10
    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome 著者: Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joanne Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, S.D. Clarke, Richard C. Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

    出版事項 2015
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  11. 11
    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome 著者: Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

    出版事項 2020
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  12. 12
    Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

    Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome 著者: Christopher J. Rhodes, P. Morales Otero, John Wharton, Emilia M. Swietlik, Sokratis Kariotis, Lars Harbaum, Mark Dunning, Jason M. Elinoff, Niamh Errington, A. A. Roger Thompson, James Iremonger, Gerry Coghlan, Paul A. Corris, Luke Howard, David G. Kiely, Colin Church, Joanna Pepke‐Żaba, Mark Toshner, Stephen J. Wort, Ankit A. Desai, Marc Humbert, William C. Nichols, Laura Southgate, David‐Alexandre Trégouët, Richard C. Trembath, Inga Prokopenko, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins

    出版事項 2020
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  13. 13
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort 著者: Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, F. Ellis McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard C. Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

    出版事項 2018
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    Artigo
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  14. 14
    Health and population effects of rare gene knockouts in adult humans with related parents

    Health and population effects of rare gene knockouts in adult humans with related parents 著者: Vagheesh M. Narasimhan, Karen A. Hunt, Dan Mason, Christopher L. Baker, Konrad J. Karczewski, Michael R. Barnes, Anthony Barnett, Chris Bates, Srikanth Bellary, Nicholas Bockett, Kristina Giorda, Chris Griffiths, Harry Hemingway, Zhilong Jia, M. A. Kelly, Hajrah Khawaja, Monkol Lek, Shane McCarthy, Rosemary McEachan, Anne O’Donnell‐Luria, Kenneth Paigen, Constantinos A. Parisinos, Eamonn Sheridan, Laura Southgate, Louise Tee, Mark Thomas, Yali Xue, Michael Schnall-Levin, Petko M. Petkov, Chris Tyler‐Smith, Eamonn R. Maher, Richard C. Trembath, Daniel G. MacArthur, John Wright, Richard Durbin, David A. van Heel

    出版事項 2016
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    Artigo
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  15. 15
    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache

    Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache 著者: Emer O’Connor, Carmen Fourier, Caroline Ran, Prasanth Sivakumar, Franziska Liesecke, Laura Southgate, Aster V. E. Harder, Lisanne S. Vijfhuizen, Janice Yip, Nicola Giffin, Nicholas Silver, Fayyaz Ahmed, Isabel C. Hostettler, Brendan Davies, M. Zameel Cader, Benjamin S. Simpson, Roisin Sullivan, Stéphanie Efthymiou, Joycee Adebimpe, Olivia Quinn, Ciarán Campbell, Gianpiero L. Cavalleri, Michail Vikelis, Tim Kelderman, Koen Paemeleire, Emer Kilbride, Lou Grangeon, Susie Lagrata, Daisuke Danno, Richard C. Trembath, Nicholas Wood, Ingrid Kockum, Bendik S. Winsvold, Anna Steinberg, Christina Sjöstrand, Elisabet Waldenlind, Jana Vandrovcová, Henry Houlden, Manjit Matharu, Andrea Carmine Belin

    出版事項 2021
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    Artigo
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  16. 16
    Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

    Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma 著者: Guðmar Þorleifsson, G. Bragi Walters, Alex W. Hewitt, Gísli Másson, Agnar Helgason, Andrew T. DeWan, Ásgeir Sigurðsson, Aðalbjörg Jónasdóttir, Sigurjón A. Guðjónsson, Kristinn P. Magnússon, Hreinn Stefánsson, Dennis S.C. Lam, Pancy O. S. Tam, Guðrún J. Guðmundsdóttir, Laura Southgate, Kathryn P. Burdon, María Soffía Gottfreðsdóttir, Micheala A. Aldred, Paul Mitchell, David St Clair, David Collier, Nelson L.S. Tang, Örn Sveinsson, Stuart MacGregor, Nicholas G. Martin, Angela J. Cree, Jane Whitney Gibson, Alex MacLeod, A. Jacob, Sarah Ennis, Terri L. Young, Juliana C.N. Chan, W S S Karwatowski, Christopher J. Hammond, K. Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew Lotery, Richard C. Trembath, Chi Pui Pang, Josephine Hoh, Jamie E. Craig, Augustine Kong, David A. Mackey, Friðbert Jónasson, Unnur Þorsteinsdóttir, Kāri Stefánsson

    出版事項 2010
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  17. 17
    Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension

    Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension 著者: Yi‐Yin Tai, Qiujun Yu, Ying Tang, Wei Sun, Neil J. Kelly, Satoshi Okawa, Jingsi Zhao, Tae‐Hwi Schwantes‐An, Caroline Lacoux, Stéphanie Torrino, Yassmin Al Aaraj, Wadih El Khoury, Vinny Negi, Mingjun Liu, Catherine Corey, Frances Belmonte, Sara O. Vargas, Brian E. Schwartz, B. Venkatesh Bhat, B. Nelson Chau, Jason H. Karnes, Taijyu Satoh, Robert J. Barndt, Haodi Wu, Victoria N. Parikh, Jianrong Wang, Yingze Zhang, Dennis M. McNamara, Gang Li, Gil Speyer, Bing Wang, Sruti Shiva, Brett A. Kaufman, Seungchan Kim, Delphine Gomez, Bernard Mari, Michael H. Cho, Adel Boueiz, Michael W. Pauciulo, Laura Southgate, Richard C. Trembath, Olivier Sitbon, Marc Humbert, Stefan Gräf, Nicholas W. Morrell, Christopher J. Rhodes, Martin R. Wilkins, Mehdi Nouraie, William C. Nichols, Ankit A. Desai, Thomas Bertero, Stephen Y. Chan

    出版事項 2024
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  18. 18
    Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

    Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension 著者: Joshua Hodgson, Emilia M. Swietlik, Richard M. Salmon, Charaka Hadinnapola, Ivana Nikolić, John Wharton, Jingxu Guo, James Liley, Matthias Haimel, Marta Bleda, Laura Southgate, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Allan Lawrie, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Andrea Olschewski, Horst Olschewski, Willem H. Ouwehand, Andrew J. Peacock, Joanna Pepke‐Żaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Richard C. Trembath, Anton Vonk Noordegraaf, Stephen J. Wort, Martin R. Wilkins, Paul B. Yu, Wei Li, Stefan Gräf, Paul D. Upton, Nicholas W. Morrell

    出版事項 2019
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    Artigo
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  19. 19
    Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

    Identification of rare sequence variation underlying heritable pulmonary arterial hypertension 著者: Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala A. Aldred, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke‐Żaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell

    出版事項 2018
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    Artigo
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  20. 20
    Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

    Defining the clinical validity of genes reported to cause pulmonary arterial hypertension 著者: Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Tenorio, Emily P. Callejo, Kristina Day, Daniela Macaya, Gabriel Maldonado-Velez, Wendy K. Chung, Stephen L. Archer, Kathryn Auckland, Eric D. Austin, Roberto Badagliacca, Joan-Albert Barberà, Catharina Belge, Harm Jan Bogaard, Sébastien Bonnet, Karin A. Boomars, Olivier Boucherat, Murali M. Chakinala, Robin Condliffe, Rachel L. Damico, Marion Delcroix, Ankit A. Desai, Anna Doboszyńska, C. Gregory Elliott, Mélanie Eyries, Pilar Escribano Subías, Henning Gall, Stefano Ghio, Ardeschir-Hossein Ghofrani, Ekkehard Grünig, Rizwan Hamid, Lars Harbaum, Paul M. Hassoun, Anna R. Hemnes, Katrin Hinderhofer, Luke Howard, Marc Humbert, David G. Kiely, David Langleben, Allan Lawrie, James E. Loyd, Shahin Moledina, David Montani, Nichols W. Morrell, William C. Nichols, Andrea Olschewski, Horst Olschewski, Silvia Papa, M. Pauciulo, S. Provencher, Rozenn Quarck, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Duncan J. Stewart, Andrew J. Sweatt, Emilia M. Swietlik, Carmen Treacy, Richard C. Trembath, Olga Tura-Ceide, Carmine Dario Vizza, Anton Vonk Noordegraaf, Martin R. Wilkins, Roham T. Zamanian, D. A. Zateyshchikov

    出版事項 2023
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