Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Bengani, Hemant"'
Autor:
Hall, Hildegard Nikki1 (AUTHOR), Bengani, Hemant1 (AUTHOR), Hufnagel, Robert B.2 (AUTHOR), Damante, Giuseppe3 (AUTHOR), Ansari, Morad4 (AUTHOR), Marsh, Joseph A.1 (AUTHOR), Grimes, Graeme R.1 (AUTHOR), Kriegsheim, Alex von1 (AUTHOR), Moore, David4 (AUTHOR), McKie, Lisa1 (AUTHOR), Rahmat, Jamalia5 (AUTHOR), Mio, Catia3 (AUTHOR), Blyth, Moira6 (AUTHOR), Keng, Wee Teik7 (AUTHOR), Islam, Lily8 (AUTHOR), McEntargart, Meriel9 (AUTHOR), Mannens, Marcel M.10 (AUTHOR), Heyningen, Veronica Van1 (AUTHOR), Rainger, Joe11 (AUTHOR), Brooks, Brian P.2 (AUTHOR)
Publikováno v:
PLoS ONE. 11/22/2022, Vol. 17 Issue 11, p1-21. 21p.
Akademický článek
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Autor:
Bengani, Hemant1 (AUTHOR), Grozeva, Detelina2,3 (AUTHOR), Moyon, Lambert4 (AUTHOR), Bhatia, Shipra1 (AUTHOR), Louros, Susana R.5,6 (AUTHOR), Hope, Jilly7 (AUTHOR), Jackson, Adam5 (AUTHOR), Prendergast, James G.8 (AUTHOR), Owen, Liusaidh J.1 (AUTHOR), Naville, Magali4 (AUTHOR), Rainger, Jacqueline1 (AUTHOR), Grimes, Graeme7 (AUTHOR), Halachev, Mihail7 (AUTHOR), Murphy, Laura C.7 (AUTHOR), Spasic-Boskovic, Olivera9 (AUTHOR), van Heyningen, Veronica1 (AUTHOR), Kind, Peter5,6 (AUTHOR), Abbott, Catherine M.6,7 (AUTHOR), Osterweil, Emily5,6 (AUTHOR), Raymond, F. Lucy2 (AUTHOR)
Publikováno v:
PLoS ONE. 8/13/2021, Vol. 16 Issue 8, p1-20. 20p.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R., Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Deciphering Developmental Disorders Study, Bickmore, Wendy A., Pradeepa, Madapura M., FitzPatrick, David R.
We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2f9d3727ead1d85360dfbaa49071bf94
https://eprints.gla.ac.uk/169404/1/169404.pdf
https://eprints.gla.ac.uk/169404/1/169404.pdf
Autor:
Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H, Kvarnung, M, Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, UK10K Consortium, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E, Firth, Helen V, Raymond, F Lucy, Kini, Usha, Nellåker, Christoffer, Ddd Study, FitzPatrick, David R
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::803835aaf0e6c4f6f46870f62a72c8b6
https://openaccess.sgul.ac.uk/id/eprint/109307/1/gim2016211.pdf
https://openaccess.sgul.ac.uk/id/eprint/109307/1/gim2016211.pdf
Autor:
Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::fda2c218bdb11486ce47adff84d887f9
https://www.zora.uzh.ch/id/eprint/141838/
https://www.zora.uzh.ch/id/eprint/141838/
Autor:
Davies, Faith, Hope, Jilly, McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M
Publikováno v:
Scientific Reports
Davies, F, Hope, J, McLachlan, F, Nunez, F, Doig, J, Bengani, H, Smith, C & Abbott, C M 2017, ' Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice ', Scientific Reports . https://doi.org/10.1038/srep46019
Davies, F, Hope, J, McLachlan, F, Nunez, F, Doig, J, Bengani, H, Smith, C & Abbott, C M 2017, ' Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice ', Scientific Reports . https://doi.org/10.1038/srep46019
De novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have recently been found to give rise to neurodevelopmental disorders. Children with mutations in this gene have developmental delay, epilepsy, intellec
Autor:
Pradeepa, Madapura M., McKenna, Fionnuala, Taylor, Gillian C. A., Bengani, Hemant, Grimes, Graeme R., Wood, Andrew J., Bhatia, Shipra, Bickmore, Wendy A.
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006677 (2017)
Pradeepa, M M, McKenna, F, Taylor, G C A, Bengani, H, Grimes, G R, Wood, A J, Bhatia, S & Bickmore, W A 2017, ' Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip ', PLoS Genetics, vol. 13, no. 4, e1006677 . https://doi.org/10.1371/journal.pgen.1006677
Pradeepa, M M, McKenna, F, Taylor, G C A, Bengani, H, Grimes, G R, Wood, A J, Bhatia, S & Bickmore, W A 2017, ' Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip ', PLoS Genetics, vol. 13, no. 4, e1006677 . https://doi.org/10.1371/journal.pgen.1006677
Long noncoding RNAs (lncRNAs) have been implicated in various biological functions including the regulation of gene expression, however, the functionality of lncRNAs is not clearly understood and conflicting conclusions have often been reached when c
Autor:
Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::e7bc9b34b86c61e8b9ba03c6fed17752
https://www.zora.uzh.ch/id/eprint/141837/
https://www.zora.uzh.ch/id/eprint/141837/