المؤلفون: Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: Paulet , A , Bennett-Ness , C , Ageorges , F , Trost , D , Green , A , Goudie , D , Jewell , R , Kraatari-Tiri , M , Piard , J , Coubes , C , Lam , W , Lynch , S A , Groeschel , S , Ramond , F , Fluss , J , Fagerberg , C , Brasch Andersen , C , Varvagiannis , K , Kleefstra , T , Gérard , B , Fradin , M , Vitobello , A , Tenconi , R , Denommé-Pichon , A-S , Vincent-Devulder ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/8b873177-a2a2-4ffb-9a6e-64e1d06f85c2
https://doi.org/10.1038/s41431-024-01560-8
https://discovery.dundee.ac.uk/ws/files/125437937/AAM_EJHG_main_text.pdf
https://www.research.ed.ac.uk/en/publications/expansion-of-the-neurodevelopmental-phenotype-of-individuals-with

المؤلفون: Davies, Faith C.J., Marshall, Grant F., Pegram, Eleanor, Gadd, Danni, Abbott, Catherine M.

المساهمون: Simons Initiative for the Developing Brain

المصدر: Molecular and Cellular Neuroscience ; volume 126, page 103879 ; ISSN 1044-7431

الاتاحة: http://dx.doi.org/10.1016/j.mcn.2023.103879
https://api.elsevier.com/content/article/PII:S1044743123000738?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1044743123000738?httpAccept=text/plain

المؤلفون: Abbott, Catherine M.

المصدر: Title page, contents and abstract only.

الاتاحة: http://web4.library.adelaide.edu.au/theses/09ARPS/09arpsa131.pdf

المؤلفون: Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; . (2024). Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. (In Press). European journal of human genetics Springer Nature 10.1038/s41431-024-01606-x

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/195568/

الاتاحة: https://boris.unibe.ch/195568/1/s41431-024-01606-x.pdf
https://boris.unibe.ch/195568/

المؤلفون: Treekitkarnmongkol, Warapen, Solis, Luisa M., Sankaran, Deivendran, Gagea, Mihai, Singh, Pankaj K., Mistry, Ragini, Nguyen, Tristian, Kai, Kazuharu, Liu, Jiajun, Sasai, Kaori, Jitsumori, Yoshimi, Liu, Jianwen, Nagao, Norio, Stossi, Fabio, Mancini, Michael A., Wistuba, Ignacio I., Thompson, Alastair M., Lee, Jonathan M., Cadiñanos, Juan, Wong, Kwong-Kwok, Abbott, Catherine M., Sahin, Aysegul A., Liu, Suyu, Katayama, Hiroshi, Sen, Subrata

المصدر: Science Signaling ; volume 17, issue 826 ; ISSN 1945-0877 1937-9145

الاتاحة: http://dx.doi.org/10.1126/scisignal.adh4475
https://www.science.org/doi/pdf/10.1126/scisignal.adh4475

المؤلفون: Lee, Chaeyoung, 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.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/144680/1/journal.pone.0256181.pdf; Lee, Chaeyoung, Bengani, Hemant, Grozeva, Detelina https://orca.cardiff.ac.uk/view/cardiffauthors/A2369061Y.html orcid:0000-0003-3239-8415 orcid:0000-0003-3239-8415, 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 and FitzPatrick, David R. 2021. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS ONE 16 (8) , e0256181. 10.1371/journal.pone.0256181 https://doi.org/10.1371/journal.pone.0256181 file https://orca.cardiff.ac.uk/id/eprint/144680/1/journal.pone.0256181.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/144680/
https://doi.org/10.1371/journal.pone.0256181
https://orca.cardiff.ac.uk/id/eprint/144680/1/journal.pone.0256181.pdf

المؤلفون: 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

المصدر: essn: 1932-6203 ; nlmid: 101285081

مصطلحات موضوعية: Animals, Genetically Modified, Brain, Chromosome Mapping, Cohort Studies, Disease Models, Animal, Embryo, Nonmammalian, Exome, Fragile X Mental Retardation Protein, Gene Frequency, Genes, X-Linked, Genome, Human, Genotype, Humans, Male, X-Linked Intellectual Disability, Mice, Nerve Tissue Proteins, Pedigree, Phenotype, Regulatory Elements, Transcriptional, Tenascin, Zebrafish

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/327962

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/327962
https://doi.org/10.17863/CAM.75415

المؤلفون: Gospodinova, Katerina O., Olsen, Ditte, Kaas, Mathias, Anderson, Susan M., Phillips, Jonathan, Walker, Rosie M., Bermingham, Mairead L., Payne, Abigail L., Giannopoulos, Panagiotis, Pandya, Divya, Spires-Jones, Tara L., Abbott, Catherine M., Porteous, David J., Glerup, Simon, Evans, Kathryn L.

المساهمون: Alzheimer’s Research UK

المصدر: Cellular and Molecular Neurobiology ; volume 43, issue 1, page 237-249 ; ISSN 0272-4340 1573-6830

الاتاحة: http://dx.doi.org/10.1007/s10571-021-01163-7
https://link.springer.com/content/pdf/10.1007/s10571-021-01163-7.pdf
https://link.springer.com/article/10.1007/s10571-021-01163-7/fulltext.html

المؤلفون: Chambers, Doreen M., Peters, Josephine, Abbott, Catherine M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1998 Apr . 95(8), 4463-4468.

URL الوصول: https://www.jstor.org/stable/44919

المؤلفون: Idigo, Nwamaka J., Soares, Dinesh C., Abbott, Catherine M.

المصدر: Bioscience Reports ; volume 40, issue 1 ; ISSN 0144-8463 1573-4935

الاتاحة: http://dx.doi.org/10.1042/bsr20194191
https://portlandpress.com/bioscirep/article-pdf/doi/10.1042/BSR20194191/902404/bsr-2019-4191.pdf

المؤلفون: Li, Dongsheng, Rawle, Daniel J., Wu, Zhonglan, Jin, Hongping, Lin, Min-Hsuan, Lor, Mary, Abbott, Catherine M., Harrich, David

المساهمون: National Health and Medical Research Council, Science and Technology Program - International Cooperation Program, Ningxia Key Research and Development Program

المصدر: Virology ; volume 530, page 65-74 ; ISSN 0042-6822

الاتاحة: http://dx.doi.org/10.1016/j.virol.2019.01.023
https://api.elsevier.com/content/article/PII:S0042682219300273?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0042682219300273?httpAccept=text/plain

المؤلفون: Abbott, Catherine M.

المصدر: ACS Chemical Neuroscience ; volume 10, issue 4, page 2080-2081 ; ISSN 1948-7193 1948-7193

الاتاحة: http://dx.doi.org/10.1021/acschemneuro.9b00162
https://pubs.acs.org/doi/pdf/10.1021/acschemneuro.9b00162

المؤلفون: Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Samuel, Groeschel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p

المؤلفون: Warren, Kylie, Wei, Ting, Li, Dongsheng, Qin, Fangyun, Warrilow, David, Lin, Min-Hsuan, Sivakumaran, Haran, Apolloni, Ann, Abbott, Catherine M., Jones, Alun, Anderson, Jenny L., Harrich, David

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2012 Jun 01. 109(24), 9587-9592.

URL الوصول: https://www.jstor.org/stable/41602707

المؤلفون: Davies, Faith C. J., Hope, Jilly E., McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M.

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/srep46019
https://www.nature.com/articles/srep46019.pdf
https://www.nature.com/articles/srep46019
http://www.nature.com/doifinder/10.1038/srep46019

المؤلفون: Shah, Ruth Rama, Cholewa-Waclaw, Justyna, Davies, Faith C.J, Paton, Katie M, Chaligne, Ronan, Heard, Edith, Abbott, Catherine M, Bird, Adrian P

مصطلحات موضوعية: CRISPR, LUHMES, human, neurons, neurological, Cas9, MeCP2, EEF1A2

Relation: https://doi.org/; https://doi.org/10.5281/zenodo.163342; oai:zenodo.org:163342

الاتاحة: https://doi.org/10.5281/zenodo.163342

المؤلفون: Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.

المساهمون: Wellcome Trust, Department of Health, National Institute for Health Research

المصدر: Molecular Genetics & Genomic Medicine ; volume 4, issue 4, page 465-474 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.219
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.219
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.219

المؤلفون: Lewsey, Mathew G, Daehn, Ilse S, Abbott, Catherine M

المساهمون: Daehn, Ilse S, Zaidi, Mone

الاتاحة: http://dx.doi.org/10.7554/elife.76123.sa1

المؤلفون: Li, Dongsheng, Wei, Ting, Rawle, Daniel J., Qin, Fangyun, Wang, Rui, Soares, Dinesh C., Jin, Hongping, Sivakumaran, Haran, Lin, Min-Hsuan, Spann, Kirsten, Abbott, Catherine M., Harrich, David

المساهمون: Evans, David T.

المصدر: PLOS Pathogens ; volume 11, issue 12, page e1005289 ; ISSN 1553-7374

الاتاحة: http://dx.doi.org/10.1371/journal.ppat.1005289
http://dx.plos.org/10.1371/journal.ppat.1005289

المؤلفون: Gospodinova, Katerina O., Olsen, Ditte, Kaas, Mathias, Anderson, Susan M., Phillips, Jonathan, Walker, Rosie M., Bermingham, Mairead L., Payne, Abigail L., Giannopoulos, Panagiotis, Pandya, Divya, Spires-Jones, Tara L., Abbott, Catherine M., Porteous, David J., Glerup, Simon, Evans, Kathryn L.

المصدر: Cellular & Molecular Neurobiology; Jan2023, Vol. 43 Issue 1, p237-249, 13p

مصطلحات موضوعية: DOUBLE-strand DNA breaks, DNA topoisomerase I, DNA repair, DNA damage, DENTATE gyrus, NEURODEGENERATION