Rezultaty - Grozeva, Detelina

Benefits and Challenges of Rare Genetic Variation in Alzheimer’s Disease od Grozeva, Detelina, Saad, Salha, Menzies, Georgina E., Sims, Rebecca

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Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO)() od Colasanti, Alessandro, Owen, David R., Grozeva, Detelina, Rabiner, Eugenii A., Matthews, Paul M., Craddock, Nick, Young, Allan H.

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Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia od Grozeva, Detelina, Conrad, Donald F., Barnes, Chris P., Hurles, Matthew, Owen, Michael J., O'Donovan, Michael C., Craddock, Nick, Kirov, George

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia od Kirov, George, Grozeva, Detelina, Norton, Nadine, Ivanov, Dobril, Mantripragada, Kiran K., Holmans, Peter, Craddock, Nick, Owen, Michael J., O'Donovan, Michael C.

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Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn... od Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel

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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability od Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability od Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca

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Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries od Williams, Hywel J., Craddock, Nicholas, Russo, Giancarlo, Hamshere, Marian L., Moskvina, Valentina, Dwyer, Sarah, Smith, Rhodri L., Green, Elaine, Grozeva, Detelina, Holmans, Peter, Owen, Michael J., O'Donovan, Michael C.

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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling od Baker, Kate, Gordon, Sarah L., Grozeva, Detelina, van Kogelenberg, Margriet, Roberts, Nicola Y., Pike, Michael, Blair, Edward, Hurles, Matthew E., Chong, W. Kling, Baldeweg, Torsten, Kurian, Manju A., Boyd, Stewart G., Cousin, Michael A., Raymond, F. Lucy

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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability od Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

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Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: A mixed-methods study od Wilson, Rebecca, Quinn-Scoggins, Harriet, Moriarty, Yvonne, Hughes, Jacqueline, Goddard, Mark, Cannings-John, Rebecca, Whitelock, Victoria, Whitaker, Katriina L., Grozeva, Detelina, Townson, Julia, Osborne, Kirstie, Smits, Stephanie, Robling, Michael, Hepburn, Julie, Moore, Graham, Gjini, Ardiana, Brain, Kate, Waller, Jo

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Replication of bipolar disorder susceptibility alleles and identification of 2 novel genome-wide significant associations in a new bipolar disorder case-control sample od Green, Elaine K, Hamshere, Marian, Forty, Liz, Gordon-Smith, Katherine, Fraser, Christine, Russell, Elen, Grozeva, Detelina, Kirov, George, Holmans, Peter, Moran, Jennifer L, Purcell, Shaun, Sklar, Pamela, Owen, Michael J, O’Donovan, Michael C, Jones, Lisa, Jones, Ian R, Craddock, Nick

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Rare Copy Number Variants: A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia od Grozeva, Detelina, Kirov, George, Ivanov, Dobril, Jones, Ian R., Jones, Lisa, Green, Elaine K., St Clair, David M., Young, Allan H., Ferrier, Nicol, Farmer, Anne E., McGuffin, Peter, Holmans, Peter A., Owen, Michael J., O’Donovan, Michael C., Craddock, Nick

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Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the UK: a cross-sectional population survey od Quinn-Scoggins, Harriet D, Cannings-John, Rebecca, Moriarty, Yvonne, Whitelock, Victoria, Whitaker, Katriina L, Grozeva, Detelina, Hughes, Jacqueline, Townson, Julia, Osborne, Kirstie, Goddard, Mark, McCutchan, Grace M, Waller, Jo, Robling, Michael, Hepburn, Julie, Moore, Graham, Gjini, Ardiana, Brain, Kate

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Health behaviour change among UK adults during the pandemic: findings from the COVID-19 cancer attitudes and behaviours study od Anyanwu, Philip, Moriarty, Yvonne, McCutchan, Grace, Grozeva, Detelina, Goddard, Mark, Whitelock, Victoria, Cannings-John, Rebecca, Quinn-Scoggins, Harriet, Hughes, Jacqueline, Gjini, Ardiana, Hepburn, Julie, Osborne, Kirstie, Robling, Michael, Townson, Julia, Waller, Jo, Whitaker, Katriina L., Brown, Jamie, Brain, Kate, Moore, Graham

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Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability od Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing od Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.

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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability od Bengani, Hemant, Grozeva, Detelina, Moyon, Lambert, Bhatia, Shipra, Louros, Susana R., Hope, Jilly, Jackson, Adam, Prendergast, James G., Owen, Liusaidh J., Naville, Magali, Rainger, Jacqueline, Grimes, Graeme, Halachev, Mihail, Murphy, Laura C., Spasic-Boskovic, Olivera, van Heyningen, Veronica, Kind, Peter, Abbott, Catherine M., Osterweil, Emily, Raymond, F. Lucy, Roest Crollius, Hugues, FitzPatrick, David R.

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia od Ng, Joanne, Cortès‐Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García‐Cazorla, Àngels, Grozeva, Detelina, Raymond, F. Lucy, Pérez‐Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther, Kurian, Manju A.

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Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype od Craddock, Nick, Jones, Lisa, Jones, Ian R, Kirov, George, Green, Elaine K, Grozeva, Detelina, Moskvina, Valentina, Nikolov, Ivan, Hamshere, Marian L, Vukcevic, Damjan, Caesar, Sian, Gordon-Smith, Katharine, Fraser, Christine, Russell, Ellie, Norton, Nadine, Breen, Gerome, Clair, David St, Collier, David A, Young, Allan H, Ferrier, I Nicol, Farmer, Anne, McGuffin, Peter, Holmans, Peter A, Donnelly, Peter, Owen, Michael J, O’Donovan, Michael C

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