Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kristina Ibanez"'
Autor:
Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang, Louise V. Wain, Richard Allen, Eleanor M. Wigmore, Kristina Ibanez, Dimitrios Vitsios, Sri V. V. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, Susan Monkley, Alex Mackay, Lynne Murray, Simon Young, Carolina Haefliger, FinnGen Consortium, Toby M. Maher, Maria G. Belvisi, Gisli Jenkins, Philip L. Molyneaux, Adam Platt, Slavé Petrovski
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.
Externí odkaz:
https://doaj.org/article/5ca8ca31c47044f2a6b834855f2cbf1a
Autor:
Jadhav, Bharati, Garg, Paras, van Vugt, Joke J. F. A., Garikano, Kristina Ibanez, Gagliardi, Delia, Lee, William, Martin-Trujillo, Alejandro, Gies, Scott L., Barbosa, Mafalda, Jain, Miten, Houlden, Henry, Paten, Benedict, Veldink, Jan, Tucci, Arianna, Sharp, Andrew J.
Publikováno v:
medRxiv
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA methylation profiling and tan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::e02c3ef89e9750c72d1cf5d7503a6d18
https://europepmc.org/articles/PMC10187445/
https://europepmc.org/articles/PMC10187445/
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Autor:
Davina Hensman Moss, Anupriya Dalmia, Valentina Galassi Deforie, Kristina Ibanez, Sarah J Tabrizi, Nayana Lahiri, Henry Houlden, Peter Holmans, Lesley Jones, Arianna Tucci
Publikováno v:
C: Genetic modifiers.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Yunjiang Qiu, Arianna Tucci, Sarah Fazal, Kimberley Billingsley, Samuel S. Chong, Joke J.F.A. van Vugt, Viraj Deshpande, Egor Dolzhenko, Jan M. Friedman, Ashley Carroll, Matt C. Danzi, Phillip A. Richmond, Kristina Ibanez Garikano, Ramona A. J. Zwamborn, Michael A. Eberle, Ben Weisburd, Konrad Scheffler, Jinhui Ding, Andreas Halman, Bharati Jadhav, Indhu Shree Rajan Babu, Mark F. Bennett, Heidi L. Rehm
BackgroundExpansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify repeat ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af07b6578d36ff39814bf479f876e746
https://doi.org/10.1101/2021.10.20.465046
https://doi.org/10.1101/2021.10.20.465046
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify
Externí odkaz:
https://doaj.org/article/018b5e0870b648eca3506644f3e08453
Autor:
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpi, Gabor G. Kovacs, Glenda Halliday, Dominic B. Rowe, Ian Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas W. Wood, Andrew J. Lees, Matti J. Haltia, Genomics England Research Consortium, John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Abstract Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be as
Externí odkaz:
https://doaj.org/article/bd65c1e21b3a43b093ee1ae9f5b87933
Autor:
Jaume Forés-Martos, Ferrán Catalá-López, Jon Sánchez-Valle, Kristina Ibáñez, Héctor Tejero, Helena Palma-Gudiel, Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia, Rafael Tabarés-Seisdedos
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-16 (2019)
Abstract Background Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods
Externí odkaz:
https://doaj.org/article/76ba4c9c5fbf44858c7167d24a91a30a