Результаты поиска - Southgate, Laura

The DOCK protein family in vascular development and disease по Benson, Clare E., Southgate, Laura

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Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era по Machado, Rajiv D., Southgate, Laura

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

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Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease по Dand, Nick, Schulz, Reiner, Weale, Michael E., Southgate, Laura, Oakey, Rebecca J., Simpson, Michael A., Schlitt, Thomas

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Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension по Gelinas, Simone M., Benson, Clare E., Khan, Mohammed A., Berger, Rolf M. F., Trembath, Richard C., Machado, Rajiv D., Southgate, Laura

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Extraction and high-throughput sequencing of oak heartwood DNA: Assessing the feasibility of genome-wide DNA methylation profiling по Rossi, Federico, Crnjar, Alessandro, Comitani, Federico, Feliciano, Rodrigo, Jahn, Leonie, Malim, George, Southgate, Laura, Kay, Emily, Oakey, Rebecca, Buggs, Richard, Moir, Andy, Kistler, Logan, Rodriguez Mateos, Ana, Molteni, Carla, Schulz, Reiner

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Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish по Southgate, Laura, Dafou, Dimitra, Hoyle, Jacqueline, Li, Nan, Kinning, Esther, Critchley, Peter, Németh, Andrea H., Talbot, Kevin, Bindu, Parayil S., Sinha, Sanjib, Taly, Arun B., Raghavendra, Seetharam, Müller, Ferenc, Maher, Eamonn R., Trembath, Richard C.

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

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

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

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

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

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

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

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

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

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

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Phenotypic characterisation of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension по Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, Ross, Robert MacKenzie, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W.

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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma по Thorleifsson, Gudmar, Walters, G Bragi, Hewitt, Alex W, Masson, Gisli, Helgason, Agnar, DeWan, Andrew, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Gudjonsson, Sigurjon A, Magnusson, Kristinn P, Stefansson, Hreinn, Lam, Dennis S C, Tam, Pancy O S, Gudmundsdottir, Gudrun J, Southgate, Laura, Burdon, Kathryn P, Gottfredsdottir, Maria Soffia, Aldred, Micheala A, Mitchell, Paul, St Clair, David, Collier, David A, Tang, Nelson, Sveinsson, Orn, Macgregor, Stuart, Martin, Nicholas G, Cree, Angela J, Gibson, Jane, MacLeod, Alex, Jacob, Aby, Ennis, Sarah, Young, Terri L, Chan, Juliana C N, Karwatowski, Wojciech S S, Hammond, Christopher J, Thordarson, Kristjan, Zhang, Mingzhi, Wadelius, Claes, Lotery, Andrew J, Trembath, Richard C, Pang, Chi Pui, Hoh, Josephine, Craig, Jamie E, Kong, Augustine, Mackey, David A, Jonasson, Fridbert, Thorsteinsdottir, Unnur, Stefansson, Kari

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

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