المؤلفون: Rebecca L Gonda, Rebecca A Garlena, Beth Stronach

المصدر: PLoS ONE, Vol 7, Iss 7, p e42369 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3407086?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/a660fc2036294f2d9f2dccc732a85afdTest

المؤلفون: Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Anton M. Bennett, Alberto Broniscer, Pau Castel, Caitlin A. Chang, Lukas Cyganek, Tirtha K. Das, Jeroen Hertog, Emilia Galperin, Shruti Garg, Bruce D. Gelb, Kristiana Gordon, Tamar Green, Karen W. Gripp, Maxim Itkin, Maija Kiuru, Bruce R. Korf, Jeff R. Livingstone, Alejandro López‐Juárez, Pilar L. Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I. Pierpont, Kevin Plouffe, Katherine A. Rauen, Suma P. Shankar, Shane B. Smith, David A. Stevenson, Marco Tartaglia, Richard Van, Morgan E. Wagner, Stephanie M. Ware, Martin Zenker

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: American journal of medical genetics. Part A, vol 188, iss 6
Kontaridis, M I, Roberts, A E, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, M E, Bakker, A, Bennett, A M, Broniscer, A, Castel, P, Chang, C A, Cyganek, L, Das, T K, den Hertog, J, Galperin, E, Garg, S, Gelb, B D, Gordon, K, Green, T, Gripp, K W, Itkin, M, Kiuru, M, Korf, B R, Livingstone, J R, López-Juárez, A, Magoulas, P L, Mansour, S, Milner, T, Parker, E, Pierpont, E I, Plouffe, K, Rauen, K A, Shankar, S P, Smith, S B, Stevenson, D A, Tartaglia, M, Van, R, Wagner, M E, Ware, S M & Zenker, M 2022, ' The seventh international RASopathies symposium : Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62716Test
American Journal of Medical Genetics, Part A, 188(6), 1915-1927. Wiley-Liss Inc.

مصطلحات موضوعية: Pediatric, neurofibromatosis, ras Proteins/genetics, Noonan Syndrome, Costello Syndrome, Clinical Sciences, cardiofaciocutaneus syndrome, Costello Syndrome/genetics, RASopathy, Good Health and Well Being, Noonan Syndrome/genetics, ras Proteins, Genetics, Humans, 2.1 Biological and endogenous factors, Mitogen-Activated Protein Kinases, Aetiology, Mitogen-Activated Protein Kinases/metabolism, signaling, Genetics (clinical), Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66770a599b697c0d77d007bd425f8e74Test
https://escholarship.org/uc/item/44s997fhTest

المؤلفون: Han Zou, Bradley Poore, Emily Brown, Jieqi Qian, Bin Xie, Evridiki Asimakidou, Vladislav Razskazovskiy, Deanna Ayrapetian, Vaibhav Sharma, Shunjin Xia, Fei Liu, Apeng Chen, Yongchang Guan, Zhengwei Li, Siyi Wanggou, Olivier Saulnier, Michelle Ly, Wendy Fellows-Mayle, Guifa Xi, Tadanori Tomita, Adam Resnick, Stephen Mack, Eric Raabe, Charles Eberhart, Dandan Sun, Beth Stronach, Sameer Agnihotri, Gary Kohanbash, Songjian Lu, Karl Herrup, Jeremy Rich, George K. Gittes, Alberto Broniscer, Zhongliang Hu, Xuejun Li, Ian Pollack, Robert Friedlander, Sarah Hainer, Michael Taylor, Baoli Hu

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7b3a50a0591a255866b073c4112a4aadTest
https://doi.org/10.21203/rs.3.rs-1270726/v1Test

المؤلفون: Beth Stronach, Lisa Schoyer, Dominic Esposito, Katherine A. Rauen, Edjay R. Hernandez, Leslie G. Biesecker, Bruce D. Gelb, Mignon L. Loh, Andrea M. Gross, Pamela L. Wolters, Deborah K. Morrison, Megan N. Frone, Frank McCormick, Karen W. Gripp, Eric Legius, Lisa Schill, Staci Martin, Sharon A. Savage, Marielle E. Yohe, Brigitte C. Widemann, Douglas R. Stewart, Dina Zand

المصدر: Am J Med Genet A

مصطلحات موضوعية: Heart Defects, Congenital, Research Report, Oncology, medicine.medical_specialty, Neurofibromatosis 1, Breakthrough therapy, RASopathy, Cardiofaciocutaneous syndrome, Article, Costello syndrome, Ectodermal Dysplasia, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Molecular Targeted Therapy, Neurofibromatosis, Intersectoral Collaboration, Genetics (clinical), business.industry, Costello Syndrome, Noonan Syndrome, Facies, medicine.disease, National Cancer Institute (U.S.), United States, Failure to Thrive, Clinical trial, Mutation, ras Proteins, Selumetinib, Noonan syndrome, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3834d0c8df8d1fee6a93a60553d8e6Test
https://doi.org/10.1002/ajmg.a.61485Test

المؤلفون: Beverly Oberlander, Katherine A. Rauen, Christopher C. Gibson, Beth Stronach, John G. Albeck, Frank McCormick, William Timmer, Erin Hefner, William Y. C. Huang, Michelle Ellis, Edward C. Stites, Lisa Schoyer, Stanislav Y. Shvartsman, Ethan O. Perlstein, Suma P. Shankar, Martin McMahon, Philip J.S. Stork, Erika Yeh, Karen W. Gripp, Marc Therrien, Bruce D. Gelb, Annette Schenck, David A. Stevenson, Leslie Rogers, Lisa Schill, Cheng Sun, Bronwyn Kerr, Hélène Cavé, Brigitte C. Widemann, Corinne M. Linardic, Maxim Itkin, Steven M Fruchtman, Martin Zenker, Erik M. Ullian, Brage S. Andresen, Nancy Ratner, Giuseppe Zampino

المصدر: American Journal of Medical Genetics Part A. 176:2924-2929

مصطلحات موضوعية: 0301 basic medicine, Legius syndrome, MAPK/ERK pathway, business.industry, Cancer, medicine.disease, Bioinformatics, medicine.disease_cause, Phenotype, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Costello syndrome, 030220 oncology & carcinogenesis, Genetics, medicine, Noonan syndrome, Carcinogenesis, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c9efc4ac4581e8dcdbb0bb1fa168b24Test
https://doi.org/10.1002/ajmg.a.40632Test

المؤلفون: Beth Stronach, Norbert Perrimon

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.pitt.edu/~biohome/Dept/pdf/1419.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.584.8332Test; http://www.pitt.edu/~biohome/Dept/pdf/1419.pdfTest

الإتاحة: http://www.pitt.edu/~biohome/Dept/pdf/1419.pdfTest

المؤلفون: Maja Solman, Angie C. Jelin, Annie Kennedy, Alan L. Ho, Shin Ichi Inoue, Nancy Ratner, Susan Blaser, Emma Burkitt-Wright, Karin S. Walsh, Darryl B. McConnell, Michelle Ellis, Angelica Thomas, Gregg Erickson, Rebecca D. Burdine, Pau Castel, Gavin Rumbaugh, Beth Stronach, Richard J. T. Klein, Pablo Rodriguez-Viciana, Sandra Darilek, Bruce D. Gelb, Pilar L. Magoulas, Martin Zenker, Pamela L. Wolters, Amanda Brown, Tuesdi Dyer, James Lloyd Holder, Anna Sablina, Karen W. Gripp, Alwyn Dias, Lisa Schill, Kartik Venkatachalam, Lisa Schoyer, Marco Tartaglia, Amy E. Roberts, Neal Rosen, Tamar Green, Anton M. Bennett, William Timmer, Katherine A. Rauen, Frank McCormick, Andrea M. Gross, Maria I. Kontaridis, Jae Sung Yi, Carlos E. Prada, Benjamin G. Neel

المصدر: American journal of medical genetics. Part A, vol 182, iss 3
Am J Med Genet A
American Journal of Medical Genetics, Part A, 182(3), 597. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, MISSENSE MUTATIONS, 030105 genetics & heredity, Gene mutation, SYNDROME REVEALS, Patient advocacy, ACTIVATION, MYELIN STRUCTURE, Medicine, Noonan syndrome, Genetics(clinical), Genetics (clinical), Genetics & Heredity, HYPERTROPHIC CARDIOMYOPATHY, MOUSE MODEL, Medical research, Costello syndrome, PPP1CB, kinases, Drug development, Genetic Diseases, REPORTED OUTCOME MEASURES, Life Sciences & Biomedicine, Signal Transduction, medicine.medical_specialty, Clinical Sciences, NOONAN-SYNDROME, Context (language use), RASopathy, Article, cardio-facio-cutaneous syndrome, 03 medical and health sciences, Rare Diseases, Genetics, Humans, Intensive care medicine, Germ-Line Mutation, Mitogen-Activated Protein Kinase Kinases, Science & Technology, neurofibromatosis, business.industry, Precision medicine, medicine.disease, 030104 developmental biology, Inborn, Good Health and Well Being, ras Proteins, Personalized medicine, business

وصف الملف: application/pdf; image/pdf; Print-Electronic; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e4047f8a0f8a59aa9ba21ad0430336Test
https://doi.org/10.1002/ajmg.a.61434Test

المؤلفون: Beth Stronach

المصدر: Gene Expression Patterns. 15:67-79

مصطلحات موضوعية: Male, Integrins, Green Fluorescent Proteins, PDZ domain, Biology, Nervous System, Green fluorescent protein, Adherens junction, Cellular and Molecular Neuroscience, Oogenesis, Developmental Neuroscience, Myosin, Genetics, Animals, Drosophila Proteins, PDZ and LIM domain, Molecular Biology, Epithelial polarity, LIM domain, Neurons, Focal Adhesions, Muscles, Genetic Complementation Test, Gene Expression Regulation, Developmental, Protein trap, Epithelial Cells, Actomyosin, LIM Domain Proteins, Molecular biology, Cell biology, Imaginal disc, Drosophila melanogaster, Microscopy, Fluorescence, Larva, Female, Drosophila, Carrier Proteins, Drosophila Protein, Plasmids, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dacd18c7ee7723d32f218d1b06a9a2eTest
https://doi.org/10.1016/j.gep.2014.05.002Test

المؤلفون: Beth Stronach

مصطلحات موضوعية: Cell Cycle News & Views, Cell Biology, Corrigendum, Molecular Biology, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8917167b3dc957cd44a0ed614afa3ffeTest
https://europepmc.org/articles/PMC4889249Test/

المؤلفون: Rachel M. Pileggi, Alyssa B. Green, Rebecca L. Gonda, Rebecca A. Garlena, Beth Stronach

المصدر: Journal of Cell Science. 123:3177-3188

مصطلحات موضوعية: MAP kinase kinase kinase, MAP Kinase Kinase 4, Kinase, Molecular Sequence Data, Gene Expression Regulation, Developmental, Cell Biology, GTPase, Biology, Mitogen-activated protein kinase kinase, MAP Kinase Kinase Kinases, SH3 domain, Dorsal closure, Protein Structure, Tertiary, Cell biology, Enzyme Activation, Morphogenesis, Animals, Drosophila Proteins, Drosophila, Amino Acid Sequence, Signal transduction, Sequence Alignment, Research Articles, Tissue homeostasis, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7941be899574ac5302ba388095d1192eTest
https://doi.org/10.1242/jcs.063313Test