المؤلفون: Protic, Dragana, Polli, Roberta, Bettella, Elisa, Usdin, Karen, Murgia, Alessandra, Tassone, Flora

المصدر: International Journal of Molecular Sciences. 25(24)

مصطلحات موضوعية: FMR1 gene, activation ratio, full mutation, methylation, mosaicism, premutation, Fragile X Syndrome, Humans, Mosaicism, Fragile X Mental Retardation Protein, DNA Methylation, Mutation, Alleles, Trinucleotide Repeat Expansion, Clinical Relevance

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5585k5zr
https://escholarship.org/content/qt5585k5zr/qt5585k5zr.pdf

المؤلفون: Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora

المصدر: Cells. 12(13)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Fragile X Syndrome, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Neurological, Female, Animals, Fragile X Mental Retardation Protein, Reproducibility of Results, Heterozygote, Methylation, Alleles, FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, methylation, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/06c8w8g5
https://escholarship.org/content/qt06c8w8g5/qt06c8w8g5.pdf

المؤلفون: Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E., Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A., Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K., Ly, Melissa, Neumann, Andrew J., Pal, Lipika R., Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C., Srinivasan, Rajgopal, Yee, Stephen F., Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A., Hosur, Raghavendra, Peng, Jian, Bernard, Brady M., Berry, Michael, Dong, Shengcheng, Boyle, Alan P., Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J., Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S., de Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lars, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, de la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J., Wei, Qiong, Xu, Qifang, Dunbrack, Roland L., Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V., Makeev, Vsevolod J., Penzar, Dmitry D., Vorontsov, Ilya E., Favorov, Alexander V., Forman, Julia R., Hasenahuer, Marcia, Fornasari, Maria S., Parisi, Gustavo, Avsec, Ziga, Çelik, Muhammed H., Nguyen, Thi Yen Duong, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D., Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K., Göke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham R. S., Frankish, Adam, Mudge, Jonathan M., Harrow, Jennifer, Young, Erin L., Yu, Yao, Huff, Chad D., Murakami, Katsuhiko, Nagai, Yoko, Imanishi, Tadashi, Mungall, Christopher J., Jacobsen, Julius O. B., Kim, Dongsup, Jeong, Chan-Seok, Jones, David T., Li, Mulin Jun, Guthrie, Violeta Beleva, Bhattacharya, Rohit, Chen, Yun-Ching, Douville, Christopher, Fan, Jean, Kim, Dewey, Masica, David, Niknafs, Noushin, Sengupta, Sohini, Tokheim, Collin, Turner, Tychele N., Yeo, Hui Ting Grace, Karchin, Rachel, Shin, Sunyoung, Welch, Rene, Keles, Sunduz, Li, Yue, Kellis, Manolis, Corbi-Verge, Carles, Strokach, Alexey V., Kim, Philip M., Klein, Teri E., Mohan, Rahul, Sinnott-Armstrong, Nicholas A., Wainberg, Michael, Kundaje, Anshul, Gonzaludo, Nina, Mak, Angel C. Y., Chhibber, Aparna, Lam, Hugo Y. K., Dahary, Dvir, Fishilevich, Simon, Lancet, Doron, Lee, Insuk, Bachman, Benjamin, Katsonis, Panagiotis, Lua, Rhonald C., Wilson, Stephen J., Lichtarge, Olivier, Bhat, Rajendra R., Sundaram, Laksshman, Viswanath, Vivek, Bellazzi, Riccardo, Nicora, Giovanna, Rizzo, Ettore, Limongelli, Ivan, Mezlini, Aziz M., Chang, Ray, Kim, Serra, Lai, Carmen, O’Connor, Robert, Topper, Scott, van den Akker, Jeroen, Zhou, Alicia Y., Zimmer, Anjali D., Mishne, Gilad, Bergquist, Timothy R., Breese, Marcus R., Guerrero, Rafael F., Jiang, Yuxiang, Kiga, Nikki, Li, Biao, Mort, Matthew, Pagel, Kymberleigh A., Pejaver, Vikas, Stamboulian, Moses H., Thusberg, Janita, Mooney, Sean D., Teerakulkittipong, Nuttinee, Cao, Chen, Kundu, Kunal, Yin, Yizhou, Yu, Chen-Hsin, Kleyman, Michael, Lin, Chiao-Feng, Stackpole, Mary, Mount, Stephen M., Eraslan, G. kcen, Mueller, Nikola S., Naito, Tatsuhiko, Rao, Aliz R., Azaria, Johnathan R., Brodie, Aharon, Ofran, Yanay, Garg, Aditi, Pal, Debnath, Hawkins-Hooker, Alex, Kenlay, Henry, Reid, John, Mucaki, Eliseos J., Rogan, Peter K., Schwarz, Jana M., Searls, David B., Lee, Gyu Rie, Seok, Chaok, Krämer, Andreas, Shah, Sohela, Huang, ChengLai V., Kirsch, Jack F., Shatsky, Maxim, Cao, Yue, Chen, Haoran, Karimi, Mostafa, Moronfoye, Oluwaseyi, Sun, Yuanfei, Shen, Yang, Shigeta, Ron, Ford, Colby T., Nodzak, Conor, Uppal, Aneeta, Shi, Xinghua, Joseph, Thomas, Kotte, Sujatha, Rana, Sadhna, Rao, Aditya, Saipradeep, V. G., Sivadasan, Naveen, Sunderam, Uma, Stanke, Mario, Su, Andrew, Adzhubey, Ivan, Jordan, Daniel M., Sunyaev, Shamil, Rousseau, Frederic, Schymkowitz, Joost, van Durme, Joost, Tavtigian, Sean V., Carraro, Marco, Giollo, Manuel, Tosatto, Silvio C. E., Adato, Orit, Carmel, Liran, Cohen, Noa E., Fenesh, Tzila, Holtzer, Tamar, Juven-Gershon, Tamar, Unger, Ron, Niroula, Abhishek, Olatubosun, Ayodeji, Väliaho, Jouni, Yang, Yang, Vihinen, Mauno, Wahl, Mary E., Chang, Billy, Chong, Ka Chun, Hu, Inchi, Sun, Rui, Wu, William Ka Kei, Xia, Xiaoxuan, Zee, Benny C., Wang, Maggie H., Wang, Meng, Wu, Chunlei, Lu, Yutong, Chen, Ken, Yang, Yuedong, Yates, Christopher M., Kreimer, Anat, Yan, Zhongxia, Yosef, Nir, Zhao, Huying, Wei, Zhipeng, Yao, Zhaomin, Zhou, Fengfeng, Folkman, Lukas, Zhou, Yaoqi, Daneshjou, Roxana, Altman, Russ B., Inoue, Fumitaka, Ahituv, Nadav, Arkin, Adam P., Lovisa, Federica, Bonvini, Paolo, Bowdin, Sarah, Gianni, Stefano, Mantuano, Elide, Minicozzi, Velia, Novak, Leonore, Pasquo, Alessandra, Pastore, Annalisa, Petrosino, Maria, Puglisi, Rita, Toto, Angelo, Veneziano, Liana, Chiaraluce, Roberta, Ball, Mad P., Bobe, Jason R., Church, George M., Consalvi, Valerio, Cooper, David N., Buckley, Bethany A., Sheridan, Molly B., Cutting, Garry R., Scaini, Maria Chiara, Cygan, Kamil J., Fredericks, Alger M., Glidden, David T., Neil, Christopher, Rhine, Christy L., Fairbrother, William G., Alontaga, Aileen Y., Fenton, Aron W., Matreyek, Kenneth A., Starita, Lea M., Fowler, Douglas M., Löscher, Britt-Sabina, Franke, Andre, Adamson, Scott I., Graveley, Brenton R., Gray, Joe W., Malloy, Mary J., Kane, John P., Kousi, Maria, Katsanis, Nicholas, Schubach, Max, Kircher, Martin, Tang, Paul L. F., Kwok, Pui-Yan, Lathrop, Richard H., Clark, Wyatt T., Yu, Guoying K., LeBowitz, Jonathan H., Benedicenti, Francesco, Bettella, Elisa, Bigoni, Stefania, Cesca, Federica, Mammi, Isabella, Marino-Buslje, Cristina, Milani, Donatella, Peron, Angela, Polli, Roberta, Sartori, Stefano, Stanzial, Franco, Toldo, Irene, Turolla, Licia, Aspromonte, Maria C., Bellini, Mariagrazia, Leonardi, Emanuela, Liu, Xiaoming, Marshall, Christian, McCombie, W. Richard, Elefanti, Lisa, Menin, Chiara, Meyn, M. Stephen, Murgia, Alessandra, Nadeau, Kari C. Y., Neuhausen, Susan L., Nussbaum, Robert L., Pirooznia, Mehdi, Potash, James B., Dimster-Denk, Dago F., Rine, Jasper D., Sanford, Jeremy R., Snyder, Michael, Cote, Atina G., Sun, Song, Verby, Marta W., Weile, Jochen, Roth, Frederick P., Tewhey, Ryan, Sabeti, Pardis C., Campagna, Joan, Refaat, Marwan M., Wojciak, Julianne, Grubb, Soren, Schmitt, Nicole, Shendure, Jay, Spurdle, Amanda B., Stavropoulos, Dimitri J., Walton, Nephi A., Zandi, Peter P., Ziv, Elad, Burke, Wylie, Chen, Flavia, Carr, Lawrence R., Martinez, Selena, Paik, Jodi, Harris-Wai, Julie, Yarborough, Mark, Fullerton, Stephanie M., Koenig, Barbara A., McInnes, Gregory, Shigaki, Dustin, Chandonia, John-Marc, Furutsuki, Mabel, Kasak, Laura, Yu, Changhua, Chen, Rui, Friedberg, Iddo, Getz, Gad A., Cong, Qian, Kinch, Lisa N., Zhang, Jing, Grishin, Nick V., Voskanian, Alin, Kann, Maricel G., Tran, Elizabeth, Ioannidis, Nilah M., Hunter, Jesse M., Udani, Rupa, Cai, Binghuang, Morgan, Alexander A., Sokolov, Artem, Stuart, Joshua M., Minervini, Giovanni, Monzon, Alexander M., Batzoglou, Serafim, Butte, Atul J., Greenblatt, Marc S., Hart, Reece K., Hernandez, Ryan, Hubbard, Tim J. P., Kahn, Scott, O’Donnell-Luria, Anne, Ng, Pauline C., Shon, John, Veltman, Joris

المصدر: Jain , S , Bakolitsa , C , Brenner , S E , Radivojac , P , Moult , J , Repo , S , Hoskins , R A , Andreoletti , G , Barsky , D , Chellapan , A , Chu , H , Dabbiru , N , Kollipara , N K , Ly , M , Neumann , A J , Pal , L R , Odell , E , Pandey , G , Peters-Petrulewicz , R C , Srinivasan , R , Yee , S F , Yeleswarapu , S J , Zuhl , M ....

الاتاحة: https://research.vumc.nl/en/publications/a936c5c2-8176-4e3d-a48d-5db276714a29
https://doi.org/10.1186/s13059-023-03113-6
http://www.scopus.com/inward/record.url?scp=85187866396&partnerID=8YFLogxK

المؤلفون: Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, Herman, Kristin

المصدر: Nature Communications. 10(1)

مصطلحات موضوعية: Adolescent, Adult, Animals, Autistic Disorder, Behavior, Animal, Brain, Child, Child, Preschool, Craniofacial Abnormalities, Developmental Disabilities, Drosophila Proteins, Drosophila melanogaster, Epilepsy, Female, Humans, Intellectual Disability, Language Development Disorders, Male, Membrane Proteins, Mental Disorders, Muscle Proteins, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Neuroglia, Neurons, Proteins, Exome Sequencing, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/38k6g99s
https://escholarship.org/content/qt38k6g99s/qt38k6g99s.pdf

المؤلفون: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

المساهمون: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluí, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, Mccabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

مصطلحات موضوعية: Cell Biology, Genetic, Lipid raft, Neurodevelopment

Relation: info:eu-repo/semantics/altIdentifier/pmid/36976648; info:eu-repo/semantics/altIdentifier/wos/WOS:000998178800003; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11577/3479047; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159733545

الاتاحة: https://hdl.handle.net/11577/3479047
https://doi.org/10.1172/JCI165019

المؤلفون: Di Giorgio, Elisa, Benavides-Varela, Silvia, Porru, Annamaria, Caviola, Sara, Lunghi, Marco, Rigo, Paola, Mioni, Giovanna, Calignano, Giulia, Annunziata, Martina, Valenza, Eloisa, Liani, Valentina, Beghetti, Federica, Spolaor, Fabiola, Bettella, Elisa, Polli, Roberta, Sawacha, Zimi, Murgia, Alessandra

المصدر: International Journal of Molecular Sciences; Jan2025, Vol. 26 Issue 2, p771, 17p

مصطلحات موضوعية: X chromosome, TIME perception, GENE silencing, PHENOTYPES, LEARNING disabilities, FRAGILE X syndrome

المؤلفون: Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, von Raison, Florian

المصدر: Scientific reports. 8(1)

مصطلحات موضوعية: Humans, Fragile X Syndrome, Indoles, Excitatory Amino Acid Antagonists, Placebos, Double-Blind Method, Mental Disorders, Dose-Response Relationship, Drug, Adolescent, Adult, Middle Aged, Child, Female, Male, Young Adult, Receptor, Metabotropic Glutamate 5, Dose-Response Relationship, Drug, Receptor, Metabotropic Glutamate 5

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/91n3w3qn

المؤلفون: Aspromonte, Maria Cristina, Conte, Alessio Del, Zhu, Shaowen, Tan, Wuwei, Shen, Yang, Zhang, Yexian, Li, Qi, Wang, Maggie Haitian, Babbi, Giulia, Bovo, Samuele, Martelli, Pier Luigi, Casadio, Rita, Althagafi, Azza Th., Toonsi, Sumyyah, Kulmanov, Maxat, Hoehndorf, Robert, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Xian, Su, Surento, Wesley, Pejaver, Vikas, Mooney, Sean D., Sunderam, Uma, Sriniva, Rajgopal, Murgia, Alessandra, Piovesan, Damiano, Tosatto, Silvio C. E., Leonardi, Emanuela

المساهمون: Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), Thuwal 23, Computer Science Program, Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division, Computational Bioscience Research Center (CBRC), Department of Biomedical Sciences, University of Padova, Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX 77843, CUHK Shenzhen Research Institute, Shenzhen, Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Department of Agricultural and Food Sciences, University of Bologna, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, Innovation Labs, Tata Consultancy Services, Hyderabad, Department of Women's and Children's Health, University of Padova

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://www.researchsquare.com/article/rs-3209168/v1; Aspromonte, M. C., Conte, A. D., Zhu, S., Tan, W., Shen, Y., Zhang, Y., Li, Q., Wang, M. H., Babbi, G., Bovo, S., Martelli, P. L., Casadio, R., Althagafi, A., Toonsi, S., Kulmanov, M., Hoehndorf, R., Katsonis, P., Williams, A., Lichtarge, O., … Leonardi, E. (2023). CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs). https://doi.org/10.21203/rs.3.rs-3209168/v1; http://hdl.handle.net/10754/693494

الاتاحة: http://hdl.handle.net/10754/693494
https://doi.org/10.21203/rs.3.rs-3209168/v1

المؤلفون: Granocchio, Elisa, Andreoli, Luca, Magazù, Santina, Sarti, Daniela, Leonardi, Emanuela, Murgia, Alessandra, Ciaccio, Claudia

المساهمون: Granocchio, Elisa, Andreoli, Luca, Magazù, Santina, Sarti, Daniela, Leonardi, Emanuela, Murgia, Alessandra, Ciaccio, Claudia

مصطلحات موضوعية: Childhood Apraxia of Speech, Intellectual disability, Language impairment, SHANK2

Relation: info:eu-repo/semantics/altIdentifier/pmid/38700702; info:eu-repo/semantics/altIdentifier/wos/WOS:001214761100003; journal:EUROPEAN CHILD & ADOLESCENT PSYCHIATRY; https://hdl.handle.net/11577/3528921; https://pubmed.ncbi.nlm.nih.gov/38700702/

الاتاحة: https://hdl.handle.net/11577/3528921
https://doi.org/10.1007/s00787-024-02452-4
https://pubmed.ncbi.nlm.nih.gov/38700702/

المؤلفون: Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K, Guillen Sacoto, Maria J, Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T, Mathie, Alistair, Klee, Eric W

مصطلحات موضوعية: R Medicine (General), RJ Pediatrics, RM Therapeutics. Pharmacology

وصف الملف: text

Relation: https://oars.uos.ac.uk/2545/1/Cousin%20et%20al%202022.pdf; Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K, Guillen Sacoto, Maria J, Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T, Mathie, Alistair and Klee, Eric W (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome medicine, 14 (62). pp. 1-19. ISSN 1756-994X

الاتاحة: https://oars.uos.ac.uk/2545/
https://oars.uos.ac.uk/2545/1/Cousin%20et%20al%202022.pdf
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01064-4#additional-information

المؤلفون: Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.

مصطلحات موضوعية: Q Science (General), R Medicine (General)

وصف الملف: text

Relation: https://oars.uos.ac.uk/2539/1/Gain%20and%20loss%20of%20TASK3%20channel --- .pdf; Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair and Klee, Eric W. (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Medicine, 14 (1). p. 62. ISSN 1756-994X

الاتاحة: https://oars.uos.ac.uk/2539/
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01064-4#Fun

المؤلفون: Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.

المصدر: JAMA Network Open ; volume 5, issue 1, page e2141911 ; ISSN 2574-3805

الاتاحة: http://dx.doi.org/10.1001/jamanetworkopen.2021.41911
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2787581/godler_2022_oi_211166_1643823318.97756.pdf

المؤلفون: Yrigollen, Carolyn M, Martorell, Loreto, Durbin-Johnson, Blythe, Naudo, Montserrat, Genoves, Jordi, Murgia, Alessandra, Polli, Roberta, Zhou, Lili, Barbouth, Deborah, Rupchock, Abigail, Finucane, Brenda, Latham, Gary J, Hadd, Andrew, Berry-Kravis, Elizabeth, Tassone, Flora

المصدر: Journal of Neurodevelopmental Disorders. 6(1)

مصطلحات موضوعية: Rare Diseases, Brain Disorders, Pediatric, Genetics, Fragile X Syndrome, Clinical Research, Intellectual and Developmental Disabilities (IDD), Good Health and Well Being, AGG interruptions, premutation, FMR1, gray/intermediate allele, full mutation, risk of expansion, Neurosciences, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/51h0v66k
https://escholarship.org/content/qt51h0v66k/qt51h0v66k.pdf

المؤلفون: Yrigollen, Carolyn M, Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana Mh, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo-Bonilla, Luis, Silva Arevalo, Gabriel de Jesus, Cogram, Patricia, Murgia, Alessandra, Tassone, Flora

المصدر: Intractable & Rare Diseases Research. 3(4)

مصطلحات موضوعية: Pediatric, Brain Disorders, Genetics, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Clinical Research, Fragile X Syndrome, AGG interruptions, FMR1 allele, CGG repeat, expansion, ethnicity, Clinical Sciences, Pharmacology and Pharmaceutical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xh2q4t6

المؤلفون: Spolaor, Fabiola, Guiotto, Annamaria, Piatkowska, Weronika, Di Giorgio, Elisa, Liani, Valentina, Polli, Roberta, Murgia, Alessandra, Sawacha, Zimi

المساهمون: Spolaor, Fabiola, Guiotto, Annamaria, Piatkowska, Weronika, Di Giorgio, Elisa, Liani, Valentina, Polli, Roberta, Murgia, Alessandra, Sawacha, Zimi

وصف الملف: ELETTRONICO

Relation: ispartofbook:Gait & Posture; 28th Congress of the European Society of Biomechanics - ESB 2023; volume:106; journal:GAIT & POSTURE; https://hdl.handle.net/11577/3502480

الاتاحة: https://hdl.handle.net/11577/3502480
https://doi.org/10.1016/j.gaitpost.2023.07.219

المؤلفون: Mereu, Noemi, Mereu, Alessandra, Murgia, Alessandra, Liori, Arianna, Piga, Michela, Argiolas, Federico, Salis, Graziella, Santus, Simonetta, Porcu, Carmela, Contu, Paolo, Sardu, Claudia

المساهمون: Mereu, Noemi, Mereu, Alessandra, Murgia, Alessandra, Liori, Arianna, Piga, Michela, Argiolas, Federico, Salis, Graziella, Santus, Simonetta, Porcu, Carmela, Contu, Paolo, Sardu, Claudia

مصطلحات موضوعية: birth centre, early communication, new-born babies’ mother, prenatal course, vaccination attitude, vaccine hesitancy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33233535; info:eu-repo/semantics/altIdentifier/wos/WOS:000602257000001; volume:8; issue:4; firstpage:1; lastpage:12; numberofpages:12; journal:VACCINES; https://hdl.handle.net/11584/348802; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096638686

الاتاحة: https://hdl.handle.net/11584/348802
https://doi.org/10.3390/vaccines8040701

المؤلفون: Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende Rodríguez, Maria Angelica, Santa María Vásquez, Lorena Ivette, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.

المصدر: Red Jama Abierta

مصطلحات موضوعية: Síndrome de prader - willi, Síndrome de angelman, Diagnóstico

وصف الملف: application/pdf

Relation: Red Jama Abierta (2021) 5:1 Artículo e2141911; 0.1001/jamanetworkopen.2021.41911; https://repositorio.uchile.cl/handle/2250/184966

الاتاحة: https://repositorio.uchile.cl/handle/2250/184966

المؤلفون: Vos, Niels, Reilly, Jack, Elting, Mariet W, Campeau, Philippe M, Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J, Kaur, Simran, StJohn, Miya, Morgan, Angela T, Kamien, Benjamin A, Patel, Chirag, Tedder, Matthew L, Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel, Levy, Michael A, Relator, Raissa, Alders, Marielle, Sadikovic, Bekim

المساهمون: Vos, Niel, Reilly, Jack, Elting, Mariet W, Campeau, Philippe M, Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J, Kaur, Simran, Stjohn, Miya, Morgan, Angela T, Kamien, Benjamin A, Patel, Chirag, Tedder, Matthew L, Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel, Levy, Michael A, Relator, Raissa, Alders, Marielle, Sadikovic, Bekim

مصطلحات موضوعية: DNA methylation, KAT6A, epigenetic, episignature

Relation: info:eu-repo/semantics/altIdentifier/pmid/37249002; info:eu-repo/semantics/altIdentifier/wos/WOS:000996750300001; volume:15; issue:6; firstpage:351; lastpage:367; numberofpages:17; journal:EPIGENOMICS; https://hdl.handle.net/11577/3492236; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160965403

الاتاحة: https://hdl.handle.net/11577/3492236
https://doi.org/10.2217/epi-2023-0079

المؤلفون: Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bezieau, Stephane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher, Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, L., Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, B, Magg, Janine, Riess, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, Guerrot, Anne-Marie

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Imagerie Médicale CHU Rouen, Hôpital Charles Nicolle Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Laboratoire de Génétique Moléculaire, Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Service de Génétique Clinique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Génétique Moléculaire CHRU Strasbourg, CHRU Strasbourg, Université de Montpellier (UM), Département de génétique Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré Paris, Hôpital Robert Debré, Institute of Human Genetics Erlangen, Allemagne, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Molecular and Clinical Sciences Institute - St George’s London, UK (Genetics Research Centre), University of London London, Center for Medical Genetics Ghent, Ghent University Hospital, Institute of Human Genetics, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Human Genetics, Fondation Jean Dausset - Centre d’Étude du Polymorphisme Humain

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-02904491 ; European Journal of Medical Genetics, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-02904491; https://hal.science/hal-02904491; https://hal.science/hal-02904491/document; https://hal.science/hal-02904491/file/S1769721220305073.pdf; PII: S1769-7212(20)30507-3

الاتاحة: https://hal.science/hal-02904491
https://hal.science/hal-02904491/document
https://hal.science/hal-02904491/file/S1769721220305073.pdf
https://doi.org/10.1016/j.ejmg.2020.104004

المؤلفون: Leonardi, Emanuela, Bettella, Elisa, Pelizza, Maria Federica, Aspromonte, Maria Cristina, Polli, Roberta, Boniver, Clementina, Sartori, Stefano, Milani, Donatella, Murgia, Alessandra

المساهمون: Ministry of Public Health, Fondazione Città della Speranza

المصدر: Frontiers in Neurology ; volume 11 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2020.593446
https://www.frontiersin.org/articles/10.3389/fneur.2020.593446/full