المؤلفون: Tompson, Stuart W. J.

مصطلحات موضوعية: 616.47042

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397359

المؤلفون: Thomson, Benjamin R., Liu, Pan, Onay, Tuncer, Du, Jing, Tompson, Stuart W., Misener, Sol, Purohit, Raj R., Young, Terri L., Jin, Jing, Quaggin, Susan E.

المساهمون: U.S. Department of Health & Human Services | NIH | National Eye Institute, Research to Prevent Blindness Lew R. Wasserman Award, U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute, U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-021-26346-0
https://www.nature.com/articles/s41467-021-26346-0.pdf
https://www.nature.com/articles/s41467-021-26346-0

المؤلفون: Young, Terri L., Whisenhunt, Kristina N., Jin, Jing, LaMartina, Sarah M., Martin, Sean M., Souma, Tomokazu, Limviphuvadh, Vachiranee, Suri, Fatemeh, Souzeau, Emmanuelle, Zhang, Xue, Dan, Yongwook, Anagnos, Evie, Carmona, Susana, Jody, Nicole M., Stangel, Nickie, Higuchi, Emily C., Huang, Samuel J., Siggs, Owen M., Simões, Maria José, Lawson, Brendan M., Martin, Jacob S., Elahi, Elahe, Narooie-Nejad, Mehrnaz, Motlagh, Behzad Fallahi, Quaggin, Susan E., Potter, Heather D., Silva, Eduardo D., Craig, Jamie E., Egas, Conceição, Maroofian, Reza, Maurer-Stroh, Sebastian, Bradfield, Yasmin S., Tompson, Stuart W.

مصطلحات موضوعية: glaucoma, modifier, TEK, SVEP1, Schlemm’s canal, Aged, Animals, Blotting, Western, Cell Adhesion Molecules, Child, Preschool, Female, Gene Frequency, Genes, Genotyping Techniques, HEK293 Cells, Human Umbilical Vein Endothelial Cells, Humans, Hydrophthalmos, Infant, Newborn, Intraocular Pressure, Male, Mice, Middle Aged, Mutation, Missense, Pedigree, Penetrance

Relation: http://hdl.handle.net/10316/106227

الاتاحة: http://hdl.handle.net/10316/106227
https://doi.org/10.1167/iovs.61.12.6

المؤلفون: Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V., Tompson, Stuart W. J., Whisenhunt, Kristina N., Verhoeven, Virginie, Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E. G., Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J., Barathi, Veluchamy A., Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L., Klaver, Caroline C. W., Saw, Seang-Mei

المساهمون: 細田, 祥勝, 三宅, 正裕, 辻川, 明孝, 山城, 健児, 90812793, 40402846

وصف الملف: application/pdf

Relation: https://doi.org/10.1371/journal.pone.0223942; http://hdl.handle.net/2433/245926; PLOS ONE; 14; e0220143

الاتاحة: http://hdl.handle.net/2433/245926

المؤلفون: Seow, Wei Jie, Ngo, Cheryl S., Pan, Hong, Barathi, Veluchamy Amutha, Tompson, Stuart W., Whisenhunt, Kristina N., Vithana, Eranga, Chong, Yap Seng, Juo, Suh Hang H., Hysi, Pirro, Young, Terri L., Karnani, Neerja, Saw, Seang Mei

المصدر: Seow , W J , Ngo , C S , Pan , H , Barathi , V A , Tompson , S W , Whisenhunt , K N , Vithana , E , Chong , Y S , Juo , S H H , Hysi , P , Young , T L , Karnani , N & Saw , S M 2019 , ' In-utero epigenetic factors are associated with early-onset myopia in young children ' , PLoS ONE , vol. 14 , no. 5 , e0214791 . https://doi.org/10.1371/journal.pone.0214791

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/90e3ee95-6819-42c6-b626-61e607b0cf39
https://doi.org/10.1371/journal.pone.0214791
http://www.scopus.com/inward/record.url?scp=85066097419&partnerID=8YFLogxK

المؤلفون: Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V., Tompson, Stuart W. J., Whisenhunt, Kristina N., Verhoeven, Virginie J. M., Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E. G., Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J., Barathi, Veluchamy A., Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L., Klaver, Caroline C. W., Saw, Seang-Mei

المصدر: PLOS ONE ; volume 14, issue 10, page e0223942 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0223942
http://dx.plos.org/10.1371/journal.pone.0223942

المؤلفون: Tedja, Milly S, Wojciechowski, Robert, Hysi, Pirro G, Eriksson, Nicholas, Furlotte, Nicholas A, Verhoeven, Virginie J M, Iglesias, Adriana I, Meester-Smoor, Magda A, Tompson, Stuart W, Fan, Qiao, Khawaja, Anthony P, Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B, Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J, Klein, Barbara E K, Klein, Ronald, Paterson, Andrew D, Hosseini, S Mohsen, Shah, Rupal L, Williams, Cathy, Teo, Yik-Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E, Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F, Joshi, Peter K, Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N, Zeller, Tanja, Van der Spek, P.J., Haak, R., Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M, Iyengar, Sudha K, Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Naq, A., Rahi, J.S., Cumberland, P.M., Delcourt, C., Bellenquez, C., Ried, J.S., Bergen, Arthur A, Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Van Duijn, C.M., Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., Klaver, C.C.W.

المصدر: Tedja , M S , Wojciechowski , R , Hysi , P G , Eriksson , N , Furlotte , N A , Verhoeven , V J M , Iglesias , A I , Meester-Smoor , M A , Tompson , S W , Fan , Q , Khawaja , A P , Cheng , C-Y , Höhn , R , Yamashiro , K , Wenocur , A , Grazal , C , Haller , T , Metspalu , A , Wedenoja , J , Jonas , J B , Wang , Y X , Xie , J , ....

مصطلحات موضوعية: Journal Article

وصف الملف: application/pdf

الاتاحة: https://pure.knaw.nl/portal/en/publications/67984a46-b4c9-4c16-818c-32a0935f3046
https://doi.org/10.1038/s41588-018-0127-7
https://hdl.handle.net/20.500.11755/67984a46-b4c9-4c16-818c-32a0935f3046
https://pure.knaw.nl/ws/files/9097430/Tedja2018Natgenet.pdf

المؤلفون: Tedja, Milly S., Wojciechowski, Robert, Hysi, Pirro G., Eriksson, Nicholas, Furlotte, Nicholas A., Verhoeven, Virginie J. M., Iglesias, Adriana I., Meester-Smoor, Magda A., Tompson, Stuart W., Fan, Qiao, Khawaja, Anthony P., Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B., Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Paterson, Andrew D., Hosseini, S. Mohsen, Shah, Rupal L., Williams, Cathy, Teo, Yik Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E., Polasek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F., Consortium, The CREAM, Team, 23andMe Research, Consortium, UK Biobank Eye and Vision, Joshi, Peter K., Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N., Zeller, Tanja, van der Spek, Peter J., Haak, Roxanna, Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M., Iyengar, Sudha K., Lass, Jonathan H., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., Vingerling, Johannes R., Lehtimäki, Terho, Raitakari, Olli T., Biino, Ginevra, Concas, Maria Pina, Schwantes-An, Tae-Hwi, Igo, Robert P., Cuellar-Partida, Gabriel, Martin, Nicholas G., Craig, Jamie E., Gharahkhani, Puya, Williams, Katie M., Nag, Abhishek, Rahi, Jugnoo S., Cumberland, Phillippa M., Delcourt, Cécile, Bellenguez, Céline, Ried, Janina S., Bergen, Arthur A., Meitinger, Thomas, Gieger, Christian, Wong, Tien Yin, Hewitt, Alex W., Mackey, David A., Simpson, Claire L., Pfeiffer, Norbert, Pärssinen, Olavi, Baird, Paul N., Vitart, Veronique, Amin, Najaf, van Duijn, Cornelia M., Bailey-Wilson, Joan E., Young, Terri L., Saw, Seang-Mei, Stambolian, Dwight, MacGregor, Stuart, Guggenheim, Jeremy A., Tung, Joyce Y., Hammond, Christopher J., Klaver, Caroline C. W.

مصطلحات موضوعية: taittovirheet, geneettiset tekijät, refractive errors, genetic factors

وصف الملف: application/pdf; 834-848; fulltext

Relation: Nature Genetics; 50; CONVID_28085903

الاتاحة: http://urn.fi/URN:NBN:fi:jyu-201902141502

المؤلفون: Kloss, Bethany A., Tompson, Stuart W., Whisenhunt, Kristina N., Quow, Krystina L., Huang, Samuel J., Pavelec, Derek M., Rosenberg, Thomas, Young, Terri L.

المصدر: Kloss , B A , Tompson , S W , Whisenhunt , K N , Quow , K L , Huang , S J , Pavelec , D M , Rosenberg , T & Young , T L 2017 , ' Exome Sequence Analysis of 14 Families With High Myopia ' , Investigative Ophthalmology & Visual Science , vol. 58 , no. 4 , pp. 1982-1990 . https://doi.org/10.1167/iovs.16-20883

مصطلحات موضوعية: high myopia, candidate genes, variants, exome sequencing, GWAS

وصف الملف: application/pdf

الاتاحة: https://curis.ku.dk/portal/da/publications/exome-sequence-analysis-of-14-families-with-high-myopia(44fc91b6-d4e8-4e1d-9e22-efd3ec29283d).html
https://doi.org/10.1167/iovs.16-20883
https://curis.ku.dk/ws/files/188533840/i1552_5783_58_4_1982.pdf

المؤلفون: Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.

المصدر: The American Journal of Human Genetics ; volume 90, issue 4, page 746-751 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.03.004
https://api.elsevier.com/content/article/PII:S0002929712001486?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712001486?httpAccept=text/plain

المؤلفون: Tompson, Stuart W., Bacino, Carlos A., Safina, Nicole P., Bober, Michael B., Proud, Virginia K., Funari, Tara, Wangler, Michael F., Nevarez, Lisette, Ala-Kokko, Leena, Wilcox, William R., Eyre, David R., Krakow, Deborah, Cohn, Daniel H.

المصدر: The American Journal of Human Genetics ; volume 87, issue 5, page 708-712 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2010.10.009
https://api.elsevier.com/content/article/PII:S0002929710005252?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929710005252?httpAccept=text/plain

المؤلفون: Tompson, Stuart W., Merriman, Barry, Funari, Vincent A., Fresquet, Maryline, Lachman, Ralph S., Rimoin, David L., Nelson, Stanley F., Briggs, Michael D., Cohn, Daniel H., Krakow, Deborah

المصدر: The American Journal of Human Genetics ; volume 84, issue 1, page 72-79 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2008.12.001
https://api.elsevier.com/content/article/PII:S0002929708006228?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929708006228?httpAccept=text/plain

المؤلفون: Bradfield, Yasmin, Barbosa, Thaisa, Blodi, Barbara, Tompson, Stuart W., McLellan, Gillian J., Struck, Michael, Young, Terri L.

المساهمون: Research to Prevent Blindness, University of Wisconsin–Madison, Lions Eye Bank

المصدر: Ophthalmology Glaucoma ; volume 2, issue 4, page 232-239 ; ISSN 2589-4196

الاتاحة: http://dx.doi.org/10.1016/j.ogla.2019.04.006
https://api.elsevier.com/content/article/PII:S2589419619301231?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589419619301231?httpAccept=text/plain

المؤلفون: 90812793, 40402846, Wong, Yee-Ling, Hysi, Pirro, Cheung, Gemmy, Tedja, Milly, Hoang, Quan V., Tompson, Stuart W. J., Whisenhunt, Kristina N., Verhoeven, Virginie, Zhao, Wanting, Hess, Moritz, Wong, Chee-Wai, Kifley, Annette, Hosoda, Yoshikatsu, Haarman, Annechien E. G., Hopf, Susanne, Laspas, Panagiotis, Sensaki, Sonoko, Sim, Xueling, Miyake, Masahiro, Tsujikawa, Akitaka, Lamoureux, Ecosse, Ohno-Matsui, Kyoko, Nickels, Stefan, Mitchell, Paul, Wong, Tien-Yin, Wang, Jie Jin, Hammond, Christopher J., Barathi, Veluchamy A., Cheng, Ching-Yu, Yamashiro, Kenji, Young, Terri L., Klaver, Caroline C. W., Saw, Seang-Mei

مصطلحات الفهرس: journal article

URL: http://hdl.handle.net/2433/245926
https://doi.org/10.1371/journal.pone.0223942
10.1371/journal.pone.0220143
https://doi.org/10.1371/journal.pone.0223942

المؤلفون: Thomson, Benjamin R, Souma, Tomokazu, Tompson, Stuart W, Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M, Feng, Liang, Whisenhunt, Kristina N, Yanovitch, Tammy L, Kalaydjieva, Luba, Azmanov, Dimitar N, Finzi, Simone, Tanna, Christine E, Hewitt, Alex W, Mackey, David A, Bradfield, Yasmin S, Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L, Pasutto, Francesca, Liu, Xiaorong, John, Simon Wm, Craig, Jamie E, Jin, Jing, Young, Terri L, Quaggin, Susan E

مصطلحات موضوعية: Mouse models, Ophthalmology, Vascular Biology, endothelial cells

وصف الملف: application/pdf

Relation: The Journal of clinical investigation; https://hdl.handle.net/10161/16647

الاتاحة: https://hdl.handle.net/10161/16647

المؤلفون: Souma, Tomokazu, Tompson, Stuart W, Thomson, Benjamin R, Siggs, Owen M, Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N, Maurer-Stroh, Sebastian, Yanovitch, Tammy L, Kalaydjieva, Luba, Azmanov, Dimitar N, Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W, Kloss, Bethany, Burdon, Kathryn P, Mackey, David A, Allen, Keri F, Ruddle, Jonathan B, Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L, Pasutto, Francesca, Craig, Jamie E, Jin, Jing, Quaggin, Susan E, Young, Terri L

مصطلحات موضوعية: Trabecular Meshwork, Animals, Mice, Transgenic, Knockout, Humans, Glaucoma, Receptor, TIE-2, Angiopoietins, Ligands, Pedigree, Signal Transduction, Gene Expression Regulation, Phosphorylation, Intraocular Pressure, Gene Dosage, Phenotype, Mutation, Missense, Family Health, Exome

وصف الملف: application/pdf

Relation: The Journal of clinical investigation; https://hdl.handle.net/10161/16648

الاتاحة: https://hdl.handle.net/10161/16648

المؤلفون: Thomson, Benjamin R, Souma, Tomokazu, Tompson, Stuart W, Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M, Feng, Liang, Whisenhunt, Kristina N, Yanovitch, Tammy L, Kalaydjieva, Luba, Azmanov, Dimitar N, Finzi, Simone, Tanna, Christine E, Hewitt, Alex W, Mackey, David A, Bradfield, Yasmin S, Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L, Pasutto, Francesca, Liu, Xiaorong, John, Simon W M, Craig, Jamie E, Jin, Jing, Young, Terri L, Quaggin, Susan E

المصدر: Faculty Research 2017

مصطلحات موضوعية: Life Sciences, Medicine and Health Sciences

Relation: https://mouseion.jax.org/stfb2017/252; https://doi.org/10.1172/JCI95545

الاتاحة: https://mouseion.jax.org/stfb2017/252
https://doi.org/10.1172/JCI95545

المؤلفون: Tompson, Stuart W., Johnson, Charles, Abbott, Diana, Bakall, Benjamin, Soler, Vincent, Yanovitch, Tammy L., Whisenhunt, Kristina N., Klemm, Thomas, Rozen, Steve, Stone, Edwin M., Johnson, Max, Young, Terri L.

المساهمون: Centre Hospitalier Universitaire de Toulouse, National Institutes of Health, Fondation de France, Foundation Fighting Blindness, Fondation pour la Recherche Médicale, Research to Prevent Blindness, Duke-National University of Singapore

المصدر: Ophthalmic Genetics ; volume 38, issue 1, page 43-50 ; ISSN 1381-6810 1744-5094

الاتاحة: http://dx.doi.org/10.1080/13816810.2016.1275018
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1275018

المؤلفون: Souma, Tomokazu, Tompson, Stuart W., Thomson, Benjamin R., Siggs, Owen M., Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N., Maurer-Stroh, Sebastian, Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W., Kloss, Bethany, Burdon, Kathryn P., Mackey, David A., Allen, Keri F., Ruddle, Jonathan B., Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L., Pasutto, Francesca, Craig, Jamie E., Jin, Jing, Quaggin, Susan E., Young, Terri L.

المساهمون: School of Biological Sciences

مصطلحات موضوعية: primary congenital glaucoma, angiopoietin receptor TEK

وصف الملف: 13 p.

Relation: Journal of Clinical Investigation; Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., et al. (2016). Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. Journal of Clinical Investigation, 126(7), 2575-2587.; http://hdl.handle.net/10220/41910; http://dx.doi.org/10.1172/JCI85830

الاتاحة: http://hdl.handle.net/10220/41910
https://doi.org/10.1172/JCI85830

المؤلفون: Weinstein, Michael M., Tompson, Stuart W., Chen, Yuqing, Lee, Brendan, Cohn, Daniel H.

مصطلحات موضوعية: Male, Bone Diseases, Developmental, Mice, Bone Development, Chondrocytes, Genetic Diseases, Inborn, Animals, Gene Expression, Humans, TRPV Cation Channels, Mice, Transgenic, Article, Up-Regulation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6de7c623dc384b416b9938ca21f413a9
https://europepmc.org/articles/PMC4108531/