Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma:a comprehensive meta-analysis based on a Cochrane Systematic Review

Autor: Sebastian Brandner, Alexandra McAleenan, Hayley E. Jones, Ashleigh Kernohan, Tomos Robinson, Lena Schmidt, Sarah Dawson, Claire Kelly, Emmelyn Spencer Leal, Claire L. Faulkner, Abigail Palmer, Christopher Wragg, Sarah Jefferies, Luke Vale, Julian P. T. Higgins, Kathreena M. Kurian

Publikováno v: Brandner, S, McAleenan, A S J, Jones, H E, Kernohan, A, Robinson, T, Schmidt, L, Dawson, S, Kelly, C J, Leal, E S, Faulkner, C L, Palmer, A, Wragg, C, Jefferies, S, Vale, L, Higgins, J P T & Kurian, K M 2021, ' Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma : a comprehensive meta-analysis based on a Cochrane Systematic Review ', Neuropathology and Applied Neurobiology . https://doi.org/10.1111/nan.12790

Codeletion of chromosomal arms 1p and 19q, in conjunction with a mutation in the isocitrate dehydrogenase 1 or 2 gene, is the molecular diagnostic criterion for oligodendroglioma, IDH mutant and 1p/19q codeleted. 1p/19q codeletion is a diagnostic mar

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Prognostic value of test(s) for O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation for predicting overall survival in people with glioblastoma treated with temozolomide

Autor: Claire Kelly, Ashleigh Kernohan, Julian P T Higgins, Francesca Spiga, Christopher Wragg, Lena Schmidt, Alexandra McAleenan, Luke Vale, Sarah Jefferies, Kathreena M Kurian, Claire Faulkner, Sarah Dawson, Amy E Howell, Hung-Yuan Cheng, Sebastian Brandner, Tomas Robinson

Publikováno v: Cochrane Database Syst Rev
Mcaleenan, A S J, Kelly, C J, Spiga, F, Kernohan, A, Cheng, H-Y, Dawson, S, Schmidt, L, Robinson, T, Brandner, S, Faulkner, C, Wragg, C, Jefferies, S, Howell, A E, Vale, L, Higgins, J P T & Kurian, K M 2021, ' Prognostic value of test(s) for O6-methylguanine–DNA methyltransferase (MGMT) promoter methylation for predicting overall survival in people with glioblastoma treated with temozolomide ', Cochrane Database of Systematic Reviews, vol. 2021, no. 3, CD013316 . https://doi.org/10.1002/14651858.CD013316.pub2

Background: Glioblastoma is an aggressive form of brain cancer. Approximately five in 100 people with glioblastoma survive for five years past diagnosis. Glioblastomas that have a particular modification to their DNA (called methylation) in a particu

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https://doi.org/10.1002/14651858.cd013316.pub2

Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI):a single-blind randomised controlled trial

Autor: Derek J Hausenloy, Rajesh K Kharbanda, Ulla Kristine Møller, Manish Ramlall, Jens Aarøe, Robert Butler, Heerajnarain Bulluck, Tim Clayton, Ali Dana, Matthew Dodd, Thomas Engstrom, Richard Evans, Jens Flensted Lassen, Erika Frischknecht Christensen, José Manuel Garcia-Ruiz, Diana A Gorog, Jakob Hjort, Richard F Houghton, Borja Ibanez, Rosemary Knight, Freddy K Lippert, Jacob T Lønborg, Michael Maeng, Dejan Milasinovic, Ranjit More, Jennifer M Nicholas, Lisette Okkels Jensen, Alexander Perkins, Nebojsa Radovanovic, Roby D Rakhit, Jan Ravkilde, Alisdair D Ryding, Michael R Schmidt, Ingunn Skogstad Riddervold, Henrik Toft Sørensen, Goran Stankovic, Madhusudhan Varma, Ian Webb, Christian Juhl Terkelsen, John P Greenwood, Derek M Yellon, Hans Erik Bøtker, Anders Junker, Anne Kaltoft, Morten Madsen, Evald Høj Christiansen, Lars Jakobsen, Steen Carstensen, Steen Dalby Kristensen, Troels Thim, Karin Møller Pedersen, Mette Tidemand Korsgaard, Allan Iversen, Erik Jørgensen, Francis Joshi, Frants Pedersen, Hans Henrik Tilsted, Karam Alzuhairi, Kari Saunamäki, Lene Holmvang, Ole Ahlehof, Rikke Sørensen, Steffen Helqvist, Bettina Løjmand Mark, Anton Boel Villadsen, Bent Raungaard, Leif Thuesen, Martin Kirk Christiansen, Philip Freeman, Svend Eggert Jensen, Charlotte Schmidt Skov, Ahmed Aziz, Henrik Steen Hansen, Julia Ellert, Karsten Veien, Knud Erik Pedersen, Knud Nørregård Hansen, Ole Ahlehoff, Helle Cappelen, Daniel Wittrock, Poul Anders Hansen, Jens Peter Ankersen, Kim Witting Hedegaard, John Kempel, Henning Kaus, Dennis Erntgaard, Danny Mejsner Pedersen, Matthias Giebner, Troels Martin Hansen Hansen, Mina Radosavljevic-Radovanovic, Maja Prodanovic, Lidija Savic, Marijana Pejic, Dragan Matic, Ana Uscumlic, Ida Subotic, Ratko Lasica, Vladan Vukcevic, Alfonso Suárez, Beatriz Samaniego, César Morís, Eduardo Segovia, Ernesto Hernández, Iñigo Lozano, Isaac Pascual, Jose M. Vegas-Valle, José Rozado, Juan Rondán, Pablo Avanzas, Raquel del Valle, Remigio Padrón, Alfonso García-Castro, Amalia Arango, Ana B. Medina-Cameán, Ana I. Fente, Ana Muriel-Velasco, Ángeles Pomar-Amillo, César L. Roza, César M. Martínez-Fernández, Covadonga Buelga-Díaz, David Fernández-Gonzalo, Elena Fernández, Eloy Díaz-González, Eugenio Martinez-González, Fernando Iglesias-Llaca, Fernando M. Viribay, Francisco J. Fernández-Mallo, Francisco J. Hermosa, Ginés Martínez-Bastida, Javier Goitia-Martín, José L. Vega-Fernández, Jose M. Tresguerres, Juan A. Rodil-Díaz, Lara Villar-Fernández, Lucía Alberdi, Luis Abella-Ovalle, Manuel de la Roz, Marcos Fernández-Carral Fernández-Carral, María C. Naves, María C. Peláez, María D. Fuentes, María García-Alonso, María J. Villanueva, María S. Vinagrero, María Vázquez-Suárez, Marta Martínez-Valle, Marta Nonide, Mónica Pozo-López, Pablo Bernardo-Alba, Pablo Galván-Núñez, Polácido J. Martínez-Pérez, Rafael Castro, Raquel Suárez-Coto, Raquel Suárez-Noriega, Rocío Guinea, Rosa B. Quintana, Sara de Cima, Segundo A. Hedrera, Sonia I. Laca, Susana Llorente-Álvarez, Susana Pascual, Teodorna Cimas, Anthony Mathur, Eleanor McFarlane-Henry, Gerry Leonard, Jessry Veerapen, Mark Westwood, Martina Colicchia, Mary Prossora, Mervyn Andiapen, Saidi Mohiddin, Valentina Lenzi, Jun Chong, Rohin Francis, Amy Pine, Caroline Jamieson-Leadbitter, Debbie Neal, J. Din, Jane McLeod, Josh Roberts, Karin Polokova, Kristel Longman, Lucy Penney, Nicki Lakeman, Nicki Wells, Oliver Hopper, Paul Coward, Peter O'Kane, Ruth Harkins, Samantha Guyatt, Sarah Kennard, Sarah Orr, Stephanie Horler, Steve Morris, Tom Walvin, Tom Snow, Michael Cunnington, Amanda Burd, Anne Gowing, Arvindra Krishnamurthy, Charlotte Harland, Derek Norfolk, Donna Johnstone, Hannah Newman, Helen Reed, James O'Neill, John Greenwood, Josephine Cuxton, Julie Corrigan, Kathryn Somers, Michelle Anderson, Natalie Burtonwood, Petra Bijsterveld, Richard Brogan, Tony Ryan, Vivek Kodoth, Arif Khan, Deepti Sebastian, Diana Gorog, Georgina Boyle, Lucy Shepherd, Mahmood Hamid, Mohamed Farag, Nicholas Spinthakis, Paulina Waitrak, Phillipa De Sousa, Rishma Bhatti, Victoria Oliver, Siobhan Walshe, Toral Odedra, Ying Gue, Rahim Kanji, Alisdair Ryding, Amanda Ratcliffe, Angela Merrick, Carol Horwood, Charlotte Sarti, Clint Maart, Donna Moore, Francesca Dockerty, Karen Baucutt, Louise Pitcher, Mary Ilsley, Millie Clarke, Rachel Germon, Sara Gomes, Thomas Clare, Sunil Nair, Jocasta Staines, Susan Nicholson, Oliver Watkinson, Ian Gallagher, Faye Nelthorpe, Janine Musselwhite, Konrad Grosser, Leah Stimson, Michelle Eaton, Richard Heppell, Sharon Turney, Victoria Horner, Natasha Schumacher, Angela Moon, Paula Mota, Joshua O'Donnell, Abeesh Sadasiva Panicker, Anntoniette Musa, Luke Tapp, Suresh Krishnamoorthy, Valerie Ansell, Danish Ali, Samantha Hyndman, Prithwish Banerjee, Martin Been, Ailie Mackenzie, Andrew McGregor, David Hildick-Smith, Felicity Champney, Fiona Ingoldby, Kirstie Keate, Lorraine Bennett, Nicola Skipper, Sally Gregory, Scott Harfield, Alexandra Mudd, Christopher Wragg, David Barmby, Ever Grech, Ian Hall, Janet Middle, Joann Barker, Joyce Fofie, Julian Gunn, Kay Housley, Laura Cockayne, Louise Weatherlley, Nana Theodorou, Nigel Wheeldon, Pene Fati, Robert F. Storey, James Richardson, Javid Iqbal, Zul Adam, Sarah Brett, Michael Agyemang, Cecilia Tawiah, Kai Hogrefe, Prashanth Raju, Christine Braybrook, Jay Gracey, Molly Waldron, Rachael Holloway, Senem Burunsuzoglu, Sian Sidgwick, Simon Hetherington, Charmaine Beirnes, Olga Fernandez, Nicoleta Lazar, Abigail Knighton, Amrit Rai, Amy Hoare, Jonathan Breeze, Katherine Martin, Michelle Andrews, Sheetal Patale, Amy Bennett, Andrew Smallwood, Elizabeth Radford, James Cotton, Joe Martins, Lauren Wallace, Sarah Milgate, Shahzad Munir, Stella Metherell, Victoria Cottam, Ian Massey, Jane Copestick, Jane Delaney, Jill Wain, Kully Sandhu, Lisa Emery, Charlotte Hall, Chiara Bucciarelli-Ducci, Rissa Besana, Jodie Hussein, Sheila Bell, Abby Gill, Emily Bales, Gary Polwarth, Clare East, Ian Smith, Joana Oliveira, Saji Victor, Sarah Woods, Stephen Hoole, Angelo Ramos, Annaliza Sevillano, Anne Nicholson, Ashley Solieri, Emily Redman, Jean Byrne, Joan Joyce, Joanne Riches, John Davies, Kezia Allen, Louie Saclot, Madelaine Ocampo, Mark Vertue, Natasha Christmas, Raiji Koothoor, Reto Gamma, Wilson Alvares, Stacey Pepper, Barbara Kobson, Christy Reeve, Iqbal Malik, Emma Chester, Heidi Saunders, Idah Mojela, Joanna Smee, Justin Davies, Nina Davies, Piers Clifford, Priyanthi Dias, Ramandeep Kaur, Silvia Moreira, Yousif Ahmad, Lucy Tomlinson, Clare Pengelley, Amanda Bidle, Sharon Spence, Rasha Al-Lamee, Urmila Phuyal, Hakam Abbass, Tuhina Bose, Rebecca Elliott, Aboo Foundun, Alan Chung, Beth Freestone, Dr Kaeng Lee, Dr Mohamed Elshiekh, George Pulikal, Gurbir Bhatre, James Douglas, Lee Kaeng, Mike Pitt, Richard Watkins, Simrat Gill, Amy Hartley, Andrew Lucking, Berni Moreby, Damaris Darby, Ellie Corps, Georgina Parsons, Gianluigi De Mance, Gregor Fahrai, Jenny Turner, Jeremy Langrish, Lisa Gaughran, Mathias Wolyrum, Mohammed Azkhalil, Rachel Bates, Rachel Given, Rajesh Kharbanda, Rebecca Douthwaite, Steph Lloyd, Stephen Neubauer, Deborah Barker, Anne Suttling, Charlotte Turner, Clare Smith, Colin Longbottom, David Ross, Denise Cunliffe, Emily Cox, Helena Whitehead, Karen Hudson, Leslie Jones, Martin Drew, Nicholas Chant, Peter Haworth, Robert Capel, Rosalynn Austin, Serena Howe, Trevor Smith, Alex Hobson, Philip Strike, Huw Griffiths, Brijesh Anantharam, Pearse Jack, Emma Thornton, Adrian Hodgson, Alan Jennison, Anna McSkeane, Bethany Smith, Caroline Shaw, Chris Leathers, Elissa Armstrong, Gayle Carruthers, Holly Simpson, Jan Smith, Jeremy Hodierne, Julie Kelly, Justin Barclay, Kerry Scott, Lisa Gregson, Louise Buchanan, Louise McCormick, Nicci Kelsall, Rachel Mcarthy, Rebecca Taylor, Rebecca Thompson, Rhidian Shelton, Roger Moore, Sharon Tomlinson, Sunil Thambi, Theresa Cooper, Trevor Oakes, Zakhira Deen, Chris Relph, Scott prentice, Lorna Hall, Angela Dillon, Deborah Meadows, Emma Frank, Helene Markham-Jones, Isobel Thomas, Joanne Gale, Joanne Denman, John O'Connor, Julia Hindle, Karen Jackson-Lawrence, Karen Warner, Kelvin Lee, Robert Upton, Ruth Elston, Sandra Lee, Vinod Venugopal, Amanda Finch, Catherine Fleming, Charlene Whiteside, Chris Pemberton, Conor Wilkinson, Deepa Sebastian, Ella Riedel, Gaia Giuffrida, Gillian Burnett, Helen Spickett, James Glen, Janette Brown, Lauren Thornborough, Lauren Pedley, Maureen Morgan, Natalia Waddington, Oliver Brennan, Rebecca Brady, Stephen Preston, Chris Loder, Ionela Vlad, Julia Laurence, Angelique Smit, Kirsty Dimond, Michelle Hayes, Loveth Paddy, Jacolene Crause, Nadifa Amed, Priya Kaur-Babooa, Roby Rakhit, Tushar Kotecha, Hossam Fayed, Antonis Pavlidis, Bernard Prendergast, Brian Clapp, Divaka Perara, Emma Atkinson, Howard Ellis, Karen Wilson, Kirsty Gibson, Megan Smith, Muhammed Zeeshan Khawaja, Ruth Sanchez-Vidal, Simon Redwood, Sophie Jones, Aoife Tipping, Anu Oommen, Cara Hendry, DR Fazin Fath-Orboubadi, Hannah Phillips, Laurel Kolakaluri, Martin Sherwood, Sarah Mackie, Shilpa Aleti, Thabitha Charles, Liby Roy, Rob Henderson, Rod Stables, Michael Marber, Alan Berry, Andrew Redington, Kristian Thygesen, Henning Rud Andersen, Colin Berry, Andrew Copas, Tom Meade, Henning Kelbæk, Hector Bueno, Paul von Weitzel-Mudersbach, Grethe Andersen, Andrew Ludman, Nick Cruden, Dragan Topic, Zlatko Mehmedbegovic, Jesus Maria de la Hera Galarza, Steven Robertson, Laura Van Dyck, Rebecca Chu, Josenir Astarci, Zahra Jamal, Daniel Hetherington, Lucy Collier

Publikováno v: Hausenloy, D J, Kharbanda, R K, Møller, U K, Ramlall, M, Aarøe, J, Butler, R, Bulluck, H, Clayton, T, Dana, A, Dodd, M, Engstrom, T, Evans, R, Lassen, J F, Christensen, E F, Garcia-Ruiz, J M, Gorog, D A, Hjort, J, Houghton, R F, Ibanez, B, Knight, R, Lippert, F K, Lønborg, J T, Maeng, M, Milasinovic, D, More, R, Nicholas, J M, Jensen, L O, Perkins, A, Radovanovic, N, Rakhit, R D, Ravkilde, J, Ryding, A D, Schmidt, M R, Riddervold, I S, Sørensen, H T, Stankovic, G, Varma, M, Webb, I, Terkelsen, C J, Greenwood, J P, Yellon, D M, Bøtker, H E & CONDI-2/ERIC-PPCI Investigators 2019, ' Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI) : a single-blind randomised controlled trial ', Lancet, vol. 394, no. 10207, pp. 1415-1424 . https://doi.org/10.1016/S0140-6736(19)32039-2
Repisalud
Instituto de Salud Carlos III (ISCIII)
CONDI-2/ERIC-PPCI Investigators 2019, ' Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI) : a single-blind randomised controlled trial ', Lancet, vol. 394, no. 10207, pp. 1415-1424 . https://doi.org/10.1016/S0140-6736(19)32039-2
Hausenloy, D J, Kharbanda, R K, Møller, U K, Ramlall, M, Aarøe, J, Butler, R, Bulluck, H, Clayton, T, Dana, A, Dodd, M, Engstrom, T, Evans, R, Lassen, J F, Christensen, E F, Garcia-Ruiz, J M, Gorog, D A, Hjort, J, Houghton, R F, Ibanez, B, Knight, R, Lippert, F K, Lønborg, J T, Maeng, M, Milasinovic, D, More, R, Nicholas, J M, Jensen, L O, Perkins, A, Radovanovic, N, Rakhit, R D, Ravkilde, J, Ryding, A D, Schmidt, M R, Sørensen, H T, CONDI-2/ERIC-PPCI Investigators, Junker, A, Madsen, M, Christiansen, E H, Jakobsen, L, Carstensen, S, Kristensen, S D, Sørensen, R, Jensen, S E, Aziz, A, Hansen, H S, Ellert, J, Veien, K, Pedersen, K E, Hansen, K N, Ahlehoff, O, Giebner, M & Andersen, H R 2019, ' Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI) : a single-blind randomised controlled trial ', The Lancet, vol. 394, no. 10207, pp. 1415-1424 . https://doi.org/10.1016/S0140-6736(19)32039-2
Hausenloy, D J, Kharbanda, R K, Møller, U K, Ramlall, M, Aarøe, J, Butler, R, Bulluck, H, Clayton, T, Dana, A, Dodd, M, Engstrom, T, Evans, R, Lassen, J F, Christensen, E F, Garcia-Ruiz, J M, Gorog, D A, Hjort, J, Houghton, R F, Ibanez, B, Knight, R, Lippert, F K, Lønborg, J T, Maeng, M, Milasinovic, D, More, R, Nicholas, J M, Jensen, L O, Perkins, A, Radovanovic, N, Rakhit, R D, Ravkilde, J, Ryding, A D, Schmidt, M R, Riddervold, I S, Sørensen, H T, Stankovic, G, Varma, M, Webb, I, Terkelsen, C J, Greenwood, J P, Yellon, D M, Bøtker, H E, CONDI-2/ERIC-PPCI Investigators, Villadsen, A B, Raungaard, B, Thuesen, L, Christiansen, M K, Freeman, P, Jensen, S E & Skov, C S 2019, ' Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI) : a single-blind randomised controlled trial ', Lancet, vol. 394, no. 10207, pp. 1415-1424 . https://doi.org/10.1016/S0140-6736(19)32039-2

BACKGROUND: Remote ischaemic conditioning with transient ischaemia and reperfusion applied to the arm has been shown to reduce myocardial infarct size in patients with ST-elevation myocardial infarction (STEMI) undergoing primary percutaneous coronar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952d0c8ea4240d53e55d785efad5592c
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Autor: Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles

Publikováno v: American Journal of Human Genetics, 104(6), 1210. Cell Press
American Journal of Human Genetics, 104, 6, pp. 1210-1222
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American journal of human genetics, 104(6), 1210-1222. Cell Press
American Journal of Human Genetics, 104, 1210-1222
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, ' Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222 . https://doi.org/10.1016/j.ajhg.2019.03.021

Contains fulltext : 206572.pdf (Publisher’s version ) (Open Access) We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e445ede8c834a46a17c2feb49693771
https://dspace.library.uu.nl/handle/1874/381706

EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications

Autor: Lucy Chilton, Christopher Wragg, Christine J. Harrison, Michelle Cummins, Anthony V. Moorman, Claire Schwab, Catriona Parker, James W. Murray, John Moppett, Oliver Tunstall, Nicholas Goulden, Stacey Richardson, Alannah Elliott, Sarra Ryan, Ajay Vora, Vaskar Saha

Publikováno v: Schwab, C, Ryan, S L, Chilton, L, Elliott, A, Murray, J, Richardson, S, Wragg, C, Moppett, J, Cummins, M, Tunstall, O, Parker, C, Saha, V, Goulden, N, Vora, A, Moorman, A V & Harrison, C J 2016, ' EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL) : genetic profile and clinical implications ', Blood, vol. 127, no. 18, pp. 2214-2218 . https://doi.org/10.1182/blood-2015-09-670166

The EBF1-PDGFRB gene fusion accounts for 0.5%) at week 14. Two UKALL 2011 patients, positive for EBF1-PDGFRB, received imatinib; 1 died 6 months after a matched unrelated bone marrow transplant as a result of undefined encephalopathy, and the other r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca74618c5f24a1fca09eeda5bca74b4a
https://doi.org/10.1182/blood-2015-09-670166