المؤلفون: Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick

المصدر: PLoS ONE, Vol 17, Iss 11 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9681113/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e99299bcba6c411aa79ece49469be19c

المؤلفون: Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db

المؤلفون: Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/2d372407022b447ebe6a08634c10139b

المؤلفون: Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick

المصدر: PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4849793?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736f

المؤلفون: Shipra Bhatia, Christopher T Gordon, Robert G Foster, Lucie Melin, Véronique Abadie, Geneviève Baujat, Marie-Paule Vazquez, Jeanne Amiel, Stanislas Lyonnet, Veronica van Heyningen, Dirk A Kleinjan

المصدر: PLoS Genetics, Vol 11, Iss 6, p e1005193 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4452300?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/b94573715850407892c5317180a53397

المؤلفون: Sofia Pavlou, Katy Astell, Ioannis Kasioulis, Milica Gakovic, Richard Baldock, Veronica van Heyningen, Pedro Coutinho

المصدر: PLoS ONE, Vol 9, Iss 1, p e87546 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3909122?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a3754b0f6c874e88bdae23fa2955d6ff

المؤلفون: Vydianathan Ravi, Shipra Bhatia, Philippe Gautier, Felix Loosli, Boon-Hui Tay, Alice Tay, Emma Murdoch, Pedro Coutinho, Veronica van Heyningen, Sydney Brenner, Byrappa Venkatesh, Dirk A Kleinjan

المصدر: PLoS Genetics, Vol 9, Iss 1, p e1003177 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3554528?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5272b128d2a942b890e7718ea098cda0

المؤلفون: Alan W Hart, Sebastien Mella, Jacek Mendrychowski, Veronica van Heyningen, Dirk A Kleinjan

المصدر: PLoS ONE, Vol 8, Iss 1, p e54173 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3543312?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/405e37b1f1b344b684b914e9d63d63f4

المؤلفون: David J McBride, Adam Buckle, Veronica van Heyningen, Dirk A Kleinjan

المصدر: PLoS ONE, Vol 6, Iss 12, p e28616 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3248410?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b9e59bab7dc840dc96107e018c0a6312

المؤلفون: Stephen N Sansom, Dean S Griffiths, Andrea Faedo, Dirk-Jan Kleinjan, Youlin Ruan, James Smith, Veronica van Heyningen, John L Rubenstein, Frederick J Livesey

المصدر: PLoS Genetics, Vol 5, Iss 6, p e1000511 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2686252?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/7065e74b9a8841d39c3ee6300bb777b0

المؤلفون: Dirk A Kleinjan, Ruth M Bancewicz, Philippe Gautier, Ralf Dahm, Helia B Schonthaler, Giuseppe Damante, Anne Seawright, Ann M Hever, Patricia L Yeyati, Veronica van Heyningen, Pedro Coutinho

المصدر: PLoS Genetics, Vol 4, Iss 2, p e29 (2008)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2242813?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/9a26fc9a624447109c3148e66075d9ac

المؤلفون: Patricia L Yeyati, Ruth M Bancewicz, John Maule, Veronica van Heyningen

المصدر: PLoS Genetics, Vol 3, Iss 3, p e43 (2007)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1839141?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5575e61cd1fd4c22ac449da109433fec

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/The_file_have_details_for_S1-S44_Figs_S1-S3_Tables_and_S1-S6_Notes_/15166575

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s002

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/15166578

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s003

المؤلفون: Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المصدر: Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76

مصطلحات موضوعية: Ophthalmology, All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891
https://doi.org/10.1016/j.ophtha.2022.07.023

المؤلفون: Veronica Van Heyningen

المصدر: Acta Ophthalmologica. 100

مصطلحات موضوعية: Ophthalmology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::189b539b44918cd904fdd40bdda7ed79
https://doi.org/10.1111/j.1755-3768.2022.15623

المؤلفون: Veronica Van Heyningen

المصدر: Annual review of genomics and human genetics. 23

مصطلحات موضوعية: Genetics, Animals, Humans, Genomics, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e58eb52bd17e49333ff13a302fb16ba
https://pubmed.ncbi.nlm.nih.gov/35567277

المؤلفون: Rachel L. Taylor, James A. Poulter, Susan M. Downes, Martin McKibbin, Kamron N. Khan, Chris F. Inglehearn, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides, Paul N. Bishop, Simon J. Clark, Graeme C. Black, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Andrew Webster, Alison Hardcastle, Vincent Plagnol, Nikolas Pontikos, Michael Cheetham, Gavin Arno, Alessia Fiorentino, Chris Inglehearn, Carmel Toomes, Manir Ali, Claire Smith, Kamron Khan, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen

المصدر: Ophthalmology. 126:1410-1421

مصطلحات موضوعية: Male, Muscle Proteins, Retinal Drusen, Drusen, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome sequencing, Aged, Retrospective Studies, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, biology, business.industry, Intracellular Signaling Peptides and Proteins, Genetic Variation, LIM Domain Proteins, Middle Aged, Macular degeneration, medicine.disease, eye diseases, 3. Good health, Complement system, Ophthalmology, Complement Factor H, Factor H, 030221 ophthalmology & optometry, biology.protein, Female, sense organs, Haploinsufficiency, business, Complement control protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94540c5f7f4da3982edcd46c7cbb8ce
https://doi.org/10.1016/j.ophtha.2019.03.013

المؤلفون: Veronica van Heyningen

المصدر: Heredity (Edinb)

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genomics, Review Article, Computational biology, Biology, 010603 evolutionary biology, 01 natural sciences, DNA sequencing, 03 medical and health sciences, Human Genome Project, Genetics, Animals, Humans, Genetic Predisposition to Disease, Caenorhabditis elegans, Biological sciences, Genetics (clinical), Genome, Chromosome Mapping, Computational Biology, Sequence Analysis, DNA, History, 20th Century, Blotting, Southern, 030104 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838406698bd21eb6ca1641807ebf2e8d
https://doi.org/10.1038/s41437-019-0226-y

المؤلفون: Catherine M. Abbott, Mihail Halachev, Detelina Grozeva, Hugues Roest Crollius, F. Lucy Raymond, James Prendergast, Peter C. Kind, Hemant Bengani, Jacqueline K. Rainger, Laura C. Murphy, Liusaidh J Owen, Veronica van Heyningen, Adam Jackson, Lambert Moyon, Graeme R. Grimes, Olivera Spasic-Boskovic, Magali Naville, Emily K. Osterweil, Jilly Hope, David R. FitzPatrick, Shipra Bhatia, Susana R. Louros

المساهمون: MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Edinburgh, University of Cambridge [UK] (CAM), Cardiff University, Cambridge University Hospitals NHS Foundation Trust, Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Département de Biologie - ENS Paris, Département de Biologie - ENS Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Grozeva, Detelina [0000-0003-3239-8415], Moyon, Lambert [0000-0003-2390-3942], Bhatia, Shipra [0000-0002-2091-7858], Louros, Susana R. [0000-0002-1012-0386], Jackson, Adam [0000-0002-3554-6682], Prendergast, James G. [0000-0001-8916-018X], Owen, Liusaidh J. [0000-0003-0363-1775], Naville, Magali [0000-0002-6821-2427], Grimes, Graeme [0000-0002-3106-5996], Halachev, Mihail [0000-0002-4594-4588], Murphy, Laura C. [0000-0003-0029-0434], Spasic-Boskovic, Olivera [0000-0003-1583-8132], van Heyningen, Veronica [0000-0003-0359-0141], Abbott, Catherine M. [0000-0001-8794-7173], Osterweil, Emily [0000-0003-0582-2284], FitzPatrick, David R. [0000-0003-4861-969X], Apollo - University of Cambridge Repository, Louros, Susana R [0000-0002-1012-0386], Prendergast, James G [0000-0001-8916-018X], Owen, Liusaidh J [0000-0003-0363-1775], Murphy, Laura C [0000-0003-0029-0434], Abbott, Catherine M [0000-0001-8794-7173], FitzPatrick, David R [0000-0003-4861-969X]

المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181

مصطلحات موضوعية: Male, Embryology, Embryo, Nonmammalian, X-linked intellectual disability, medicine.disease_cause, Hippocampus, Midbrain, Animals, Genetically Modified, Cohort Studies, Fragile X Mental Retardation Protein, Mice, 0302 clinical medicine, Gene Frequency, Genes, X-Linked, Medicine and Health Sciences, Exome, Regulatory Elements, Transcriptional, Zebrafish, X chromosome, Genetics, 0303 health sciences, education.field_of_study, Mutation, Mammalian Genomics, Multidisciplinary, Eukaryota, Brain, Chromosome Mapping, Tenascin, Animal Models, Genomics, Pedigree, Phenotype, Experimental Organism Systems, Osteichthyes, Vertebrates, Medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Anatomy, Brainstem, Research Article, Genotype, Science, Population, Mouse Models, Nerve Tissue Proteins, Biology, Research and Analysis Methods, 03 medical and health sciences, Model Organisms, medicine, Animals, Humans, Allele, education, Gene, Alleles, 030304 developmental biology, Whole genome sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genome, Human, Embryos, Organisms, Biology and Life Sciences, medicine.disease, FMR1, Disease Models, Animal, Fish, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Animal Genomics, Genetic Loci, Animal Studies, Mental Retardation, X-Linked, Zoology, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: text/xml; application/pdf; application/zip

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689bedb7f80332ef6f820a6237c9dcc3
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db