المؤلفون: Powell, Gareth T, Faro, Ana, Zhao, Yuguang, Stickney, Heather, Novelladesmunt, Laura, Henriques, Pedro, Gestri, Gaia, Redhouse White, Esther, Ren, Jingshan, Lu, Weixian, Young, Rodrigo, Hawkins, Thomas, Cavodeassi, Florencia, Schwarz, Quenten, Dreosti, Elena, Raible, David, Li, Vivian, Wright, Gavin, Jones, E Yvonne, Wilson, Steve

المصدر: Science , 384 (6695) pp. 573-579. (2024)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10191627/1/Powell%20et%20al%202024%20Science.pdf; https://discovery.ucl.ac.uk/id/eprint/10191627/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191627/1/Powell%20et%20al%202024%20Science.pdf
https://discovery.ucl.ac.uk/id/eprint/10191627/

المؤلفون: Owen, Nicholas, Toms, Maria, Tian, Yuan, Toualbi, Lyes, Richardson, Rose, Young, Rodrigo, Tracey-White, Dhani, Dhami, Pawan, Beck, Stephan, Moosajee, Mariya

المصدر: The Journal of Pathology , 259 pp. 441-454. (2023)

مصطلحات موضوعية: DNA methylation, Polarity complex, RNA-seq, epigenome, iPSC, retina, transcriptome, zebrafish

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10163680/7/Beck_The%20Journal%20of%20Pathology%20-%202023%20-%20Owen%20-%20Loss%20of%20the%20crumbs%20cell%20polarity%20complex%20disrupts%20epigenetic%20transcriptional.pdf; https://discovery.ucl.ac.uk/id/eprint/10163680/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10163680/7/Beck_The%20Journal%20of%20Pathology%20-%202023%20-%20Owen%20-%20Loss%20of%20the%20crumbs%20cell%20polarity%20complex%20disrupts%20epigenetic%20transcriptional.pdf
https://discovery.ucl.ac.uk/id/eprint/10163680/

المؤلفون: Gilbert, Rose M, Sumodhee, Dayyanah, Pontikos, Nikolas, Hollyhead, Catherine, Patrick, Angus, Scarles, Samuel, Van Der Smissen, Sabrina, Young, Rodrigo M, Nettleton, Nick, Webster, Andrew R, Cammack, Jocelyn

المصدر: JMIR Formative Research , 6 (1) , Article e21341. (2022)

مصطلحات موضوعية: MyEyeSite, inherited retinal diseases (IRD), rare diseases, genetics, ophthalmology, digital health, eye data, GDPR, subject access request (SAR), mobile phone

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10142872/1/Pontikos_Collaborative%20Research%20and%20Development%20of%20a%20Novel,%20Patient-Centered%20Digital%20Platform%20%28MyEyeSite%29%20for%20Rare%20Inherited%20Retinal%20Disease%20Data.pdf; https://discovery.ucl.ac.uk/id/eprint/10142872/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10142872/1/Pontikos_Collaborative%20Research%20and%20Development%20of%20a%20Novel,%20Patient-Centered%20Digital%20Platform%20%28MyEyeSite%29%20for%20Rare%20Inherited%20Retinal%20Disease%20Data.pdf
https://discovery.ucl.ac.uk/id/eprint/10142872/

المؤلفون: Gilbert, Rose M., Sumodhee, Dayyanah, Pontikos, Nikolas, Hollyhead, Catherine, Patrick, Angus, Scarles, Samuel, Van Der Smissen, Sabrina, Young, Rodrigo M, Nettleton, Nick, Webster, Andrew R., Cammack, Jocelyn

المصدر: Gilbert , R M , Sumodhee , D , Pontikos , N , Hollyhead , C , Patrick , A , Scarles , S , Van Der Smissen , S , Young , R M , Nettleton , N , Webster , A R & Cammack , J 2022 , ' Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study ' , JMIR Formative Research , vol. 6 , no. 1 , e21341 . https://doi.org/10.2196/21341

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/ab05bbc1-6e85-4826-8dd2-d50579a66cd7
https://doi.org/10.2196/21341
https://kclpure.kcl.ac.uk/ws/files/169060886/Collaborative_Research_and_Development_GILBERT_Publishedonline31January2022_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=85124139451&partnerID=8YFLogxK

المؤلفون: Owen, Nicholas, Toms, Maria, Young, Rodrigo M., Eintracht, Jonathan, Sarkar, Hajrah, Brooks, Brian P., Moosajee, Mariya, Ambrose, J.C., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de, Burca A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Jackson, R., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P.

المساهمون: Cancer Research UK, Heart of England NHS Foundation Trust, Moorfields Eye Charity, Medical Research Council, Wellcome Trust, National Institute for Health Research

المصدر: Genetics in Medicine ; volume 24, issue 5, page 1073-1084 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.12.014
https://api.elsevier.com/content/article/PII:S1098360021054733?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021054733?httpAccept=text/plain

المؤلفون: Hüsken, Ulrike, Stickney, Heather L, Gestri, Gaia, Bianco, Isaac H, Faro, Ana, Young, Rodrigo M, Roussigne, Myriam, Hawkins, Thomas A, Beretta, Carlo A, Brinkmann, Irena, Paolini, Alessio, Jacinto, Raquel, Albadri, Shahad, Dreosti, Elena, Tsalavouta, Matina, Schwarz, Quenten, Cavodeassi, Florencia, Barth, Anukampa K, Wen, Lu, Zhang, Bo, Blader, Patrick, Yaksi, Emre, Poggi, Lucia, Zigman, Mihaela, Lin, Shuo, Wilson, Stephen W, Carl, Matthias

المصدر: Current Biology. 24(19)

مصطلحات موضوعية: Genetics, Neurosciences, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Animals, Cell Differentiation, Embryo, Nonmammalian, Gene Expression Regulation, Habenula, Neurons, Signal Transduction, Transcription Factor 7-Like 2 Protein, Zebrafish, Zebrafish Proteins, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4zr170tv
https://escholarship.org/content/qt4zr170tv/qt4zr170tv.pdf

المؤلفون: Powell, Gareth T., Faro, Ana, Zhao, Yuguang, Stickney, Heather, Novellasdemunt, Laura, Henriques, Pedro, Gestri, Gaia, Redhouse White, Esther, Ren, Jingshan, Lu, Weixian, Young, Rodrigo M., Hawkins, Thomas A., Cavodeassi, Florencia, Schwarz, Quenten, Dreosti, Elena, Raible, David W., Li, Vivian S. W., Wright, Gavin J., Jones, E. Yvonne, Wilson, Stephen W.

المصدر: Science ; volume 384, issue 6695, page 573-579 ; ISSN 0036-8075 1095-9203

الاتاحة: http://dx.doi.org/10.1126/science.ade6970
https://www.science.org/doi/pdf/10.1126/science.ade6970

المؤلفون: Young, Rodrigo M., Solis, Camila J., Barriga Fehrman, Andrés, Abogabir, Carlos, Thadani, Álvaro R., Labarca, Mariana, Bustamante, Eva, Tapia, Cecilia V., Sarda, Antonia G., Sepúlveda, Francisca, Pozas, Nadia, Cerpa, Leslie C, Lavanderos, María A., Varela Figueroa, Nelson Miguel Edgardo, Santibáñez, Álvaro, Sandino, Ana M., Reyes López, Felipe, Dixon, Garth, Quiñones Sepúlveda, Luis Abel

المصدر: Elife

مصطلحات موضوعية: Pandemia COVID-19, SARS-CoV-2

وصف الملف: application/pdf

Relation: eLife 2021;10:e70333.; https://repositorio.uchile.cl/handle/2250/184643

الاتاحة: https://doi.org/10.7554/eLife.70333
https://repositorio.uchile.cl/handle/2250/184643

المؤلفون: Hay, Eleanor, Henderson, Robert H., Mansour, Sahar, Deshpande, Charu, Jones, Rachel, Nutan, Savita, Mankad, Kshitij, Young, Rodrigo M., Moosajee, Mariya, Research Consortium, Genomics England, Arno, Gavin

المساهمون: University of Kentucky

المصدر: Clinical Genetics ; volume 98, issue 2, page 191-197 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13795
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13795
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13795
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13795

المؤلفون: Gaston-Massuet, Carles, McCabe, Mark J., Scagliotti, Valeria, Young, Rodrigo M., Carreno, Gabriela, Gregory, Louise C., Jayakody, Sujatha A., Pozzi, Sara, Gualtieri, Angelica, Basu, Basudha, Koniordou, Markela, Wu, Chun-I, Bancalari, Rodrigo E., Rahikkala, Elisa, Veijola, Riitta, Lopponen, Tuija, Graziola, Federica, Turton, James, Signore, Massimo, Gharavy, Seyedeh Neda Mousavy, Charolidi, Nicoletta, Sokol, Sergei Y., Andoniadou, Cynthia Lilian, Wilson, Stephen W., Merrill, Bradley J., Dattani, Mehul T., Martinez-Barbera, Juan Pedro

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2016 Feb 01. 113(5), E548-E557.

URL الوصول: https://www.jstor.org/stable/26467633

المؤلفون: Young, Rodrigo M, Ewan, Kenneth B, Ferrer, Verónica P, Allende-Connelly, Miguel Luis, Godovac-Zimmermann, Jasminka, Dale, Trevor C, Wilson, Stephen W

مصطلحات موضوعية: Biology

Relation: https://doi.org/10.7554/eLife.51447; 1180606; WOS:000502708300001; https://hdl.handle.net/10533/72459

الاتاحة: https://hdl.handle.net/10533/72459
https://doi.org/10.7554/eLife.51447

المؤلفون: Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

المساهمون: Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: brain, development, digit, eye, FBXW11, hedgehog, neurodevelopment, Noonan syndrome, WD40, Wnt, Genetics, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439135

الاتاحة: https://dspace.library.uu.nl/handle/1874/439135

المؤلفون: Holt, Richard, J, Young, Rodrigo, M, Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia, J, Bellacchio, Emanuele, Bax, Dorine, A, Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina, R, van Binsbergen, Ellen, de Luca, Alessandro, Memo, Luigi, Dobyns, William, B, Mohammed, Alaa Afif, Clokie, Samuel, J H, Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina, P, Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce, D, Wilson, Stephen, W, Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola, K

المساهمون: Oxford Brookes University, University College of London London (UCL), Great Ormond Street Institute of Child Health (UCL), University of California San Francisco (UC San Francisco), University of California (UC), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, University Medical Center Utrecht (UMCU), Odense University Hospital (OUH), Fondazione Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy (FC2S), Ospedale San Martino di Belluno Italy (ULSS 1 Dolomites), University of Washington Seattle, West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Cairo University - Faculty of Medicine, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Duke University Durham, Duke University Medical Center, Ambry Genetics Aliso Viejo, CA, USA, Kennedy Krieger Institute Baltimore, AstraZeneca Cambridge, UK, University of Melbourne, Birmingham Women's and Children's NHS Foundation Trust, Icahn School of Medicine at Mount Sinai New York (MSSM), Université Toulouse III Paul Sabatier - Faculté de médecine Purpan (UTPS), Université de Toulouse (UT)-Université de Toulouse (UT), This work was supported by grants from Baillie Gifford, Visually Impaired Children Taking Action (VICTA) (www.victa.org.uk), Microphthalmia, Anophthalmia and Coloboma Support (MACS) (www.macs.org.uk), HEIF (Health Innovation Fund, Oxford Brookes University), La Fondation de France (grant number 2015-00060235, 2015), Fondation Maladies Rares and Retina France, Fondazione Bambino Gesu` (Vite Coraggiose), E-Rare (NSEuroNet), AIRC (the Italian Foundation for Cancer Research) (IG 21614), the Italian Ministry of Health (Ricerca Corrente), and the National Heart, Lung, and Blood Institute (R35HL135742). French patients are part of the Rare Disease Cohort (RaDiCo)-AC-Oeil. RaDiCo is funded by the French National Research Agency under the specific program ‘‘Investments for the Future,’’ cohort grant agreement ANR-10-COHO-0003. V.S. and J.S. were supported by UCB Celltech and the Duke Genome Sequencing Clinic grant. W.B.D. was supported by the US National Institutes of Health under the National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS058721. R.M.Y. and S.W.W. were supported by an MRC (Medical Research Council) Programme Grant (MR/L003775/1 to S.W.W. and G. Gestri) and a Wellcome Trust Investigator Award (104682/Z/14/Z). The human embryonic and fetal material was provided by the Joint MRC/Wellcome Trust (grant MR/R006237/1) Human Developmental Biology Resource (www.hdbr.org)., ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: FBXW11, Noonan syndrome, WD40, Wnt, brain, development, digit, eye, hedgehog, neurodevelopment, MESH: Adolescent, MESH: Adult, MESH: Female, MESH: Fingers, MESH: Humans, MESH: Male, MESH: Mutation, Missense, MESH: Phenotype, MESH: Ubiquitin-Protein Ligases, MESH: beta-Transducin Repeat-Containing Proteins, MESH: Brain, MESH: Child, Preschool, MESH: Eye Abnormalities, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/31402090; PUBMED: 31402090; PUBMEDCENTRAL: PMC6731360

الاتاحة: https://inserm.hal.science/inserm-04379659
https://inserm.hal.science/inserm-04379659v1/document
https://inserm.hal.science/inserm-04379659v1/file/1-s2.0-S000292971930268X-main.pdf
https://doi.org/10.1016/j.ajhg.2019.07.005

المؤلفون: Young, Rodrigo M, Hawkins, Thomas A, Cavodeassi, Florencia, Stickney, Heather L, Schwarz, Quenten, Lawrence, Lisa M, Wierzbicki, Claudia, Cheng, Bowie Yl, Luo, Jingyuan, Ambrosio, Elizabeth Mayela, Klosner, Allison, Sealy, Ian M, Rowell, Jasmine, Trivedi, Chintan A, Bianco, Isaac H, Allende, Miguel L, Busch-Nentwich, Elisabeth M, Gestri, Gaia, Wilson, Stephen W

مصطلحات موضوعية: development, developmental biology, eye, genetics, tcf7l1, zebrafish, Animals, Cell Proliferation, Embryo, Nonmammalian, Female, Gene Expression Regulation, Developmental, Genetic Loci, Kinetics, Male, Morphogenesis, Mutation, Neural Plate, Neurogenesis, Penetrance, Phenotype, Prosencephalon, Transcription Factor 7-Like 1 Protein, Up-Regulation, Zebrafish Proteins, Zygote

وصف الملف: Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/292085

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/292085
https://doi.org/10.17863/CAM.39240

المؤلفون: Richardson, R., Owen, N., Toms, M., Young, Rodrigo M., Tracey-White, D., Moosajee, M.

المصدر: Scientific Reports ; volume 9, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-018-38379-5
https://www.nature.com/articles/s41598-018-38379-5.pdf
https://www.nature.com/articles/s41598-018-38379-5

المؤلفون: Valdivia, Leonardo E., Young, Rodrigo M., Hawkins, Thomas A., Stickney, Heather L., Cavodeassi, Florencia, Schwarz, Quenten, Pullin, Lisa M., Villegas, Rosario, Moro, Enrico, Argenton, Francesco, Allende, Miguel L., Wilson, Stephen W.

جغرافية الموضوع: CAMBRIDGE

Relation: instname: Conicyt; reponame: Repositorio Digital RI2.0; info:eu-repo/grantAgreement/Fondecyt/1110275; info:eu-repo/semantics/dataset/hdl.handle.net/10533/93477; https://doi.org/10.1242/dev.062695; 1110275; WOS:000294156000010; https://hdl.handle.net/10533/138100

الاتاحة: https://hdl.handle.net/10533/138100

المؤلفون: Moro, Enrico, Ozhan-Kizil, Gunes, Mongera, Alessandro, Beis, Dimitris, Wierzbicki, Claudia, Young, Rodrigo M., Bournele, Despina, Domenichini, Alice, Valdivia, Leonardo E., Lum, Lawrence, Chen, Chuo, Amatruda, James F., Tiso, Natascia, Weidinger, Gilbert, Argenton, Francesco

المصدر: Developmental Biology ; volume 366, issue 2, page 327-340 ; ISSN 0012-1606

الاتاحة: http://dx.doi.org/10.1016/j.ydbio.2012.03.023
https://api.elsevier.com/content/article/PII:S0012160612001959?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0012160612001959?httpAccept=text/plain

المؤلفون: Valdivia, Leonardo E., Young, Rodrigo M., Hawkins, Thomas A., Stickney, Heather L., Cavodeassi, Florencia, Schwarz, Quenten, Pullin, Lisa M., Villegas, Rosario, Moro, Enrico, Argenton, Francesco, Allende Connelly, Miguel, Wilson, Stephen W.

المصدر: Development

مصطلحات موضوعية: Lateral line, Organogenesis, Tissue homeostasis, Wnt signalling, Zebrafish

وصف الملف: application/pdf

Relation: Development, Volumen 138, Issue 18, 2018, Pages 3931-3941; https://repositorio.uchile.cl/handle/2250/154862

الاتاحة: https://doi.org/10.1242/dev.062695
https://repositorio.uchile.cl/handle/2250/154862

المؤلفون: Andoniadou, Cynthia L., Signore, Massimo, Young, Rodrigo M., Gaston-Massuet, Carles, Wilson, Stephen W., Fuchs, Elaine, Martinez-Barbera, Juan Pedro

مصطلحات موضوعية: RESEARCH ARTICLE

وصف الملف: text/html

Relation: http://dev.biologists.org/cgi/content/short/dev.066597v1; http://dx.doi.org/10.1242/dev.066597

الاتاحة: http://dev.biologists.org/cgi/content/short/dev.066597v1
https://doi.org/10.1242/dev.066597

المؤلفون: Allende, Miguel L., Valdivia, Leonardo, Young, Rodrigo, Villegas, Rosario, Undurraga, Cristian, Sandoval, Pablo, Gallardo, Viviana, Mardones, Camila, Wilson, Stephen

المصدر: Developmental Biology ; volume 344, issue 1, page 422 ; ISSN 0012-1606

الاتاحة: http://dx.doi.org/10.1016/j.ydbio.2010.05.054
https://api.elsevier.com/content/article/PII:S0012160610003404?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0012160610003404?httpAccept=text/plain