المؤلفون: Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R., Whiffin, N.

مصطلحات موضوعية: 5' Untranslated Regions, Child, Cohort Studies, DNA Copy Number Variations, Developmental Disabilities/*etiology/pathology, Genetic Predisposition to Disease, Humans, Loss of Function Mutation, MEF2 Transcription Factors/genetics, Whole Exome Sequencing, developmental disorders, clinical genetic testing, non-coding region variants, 5', UTR variants

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00184-1; Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R. and Whiffin, N. (2021) 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, 108(6), pp. 1083-1094.; American Journal of Human Genetics; PMC8206381; https://hdl.handle.net/11287/621979Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.025Test
https://hdl.handle.net/11287/621979Test

المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.

المساهمون: The DDD study

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
http://hdl.handle.net/21.11116/0000-0007-623A-ATest
http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test

المؤلفون: Procaccini C., Garavelli S., Carbone F., Di Silvestre D., La Rocca C., Greco D., Colamatteo A., Lepore M. T., Russo C., De Rosa G., Faicchia D., Prattichizzo F., Grossi S., Campomenosi P., Buttari F., Mauri P., Uccelli A., Salvetti M., Brescia Morra V., Vella D., Galgani M., Mottola M., Zuccarelli B., Lanzillo R., Maniscalco G. T., Centonze D., de Candia P., Matarese G.

المساهمون: Procaccini, C., Garavelli, S., Carbone, F., Di Silvestre, D., La Rocca, C., Greco, D., Colamatteo, A., Lepore, M. T., Russo, C., De Rosa, G., Faicchia, D., Prattichizzo, F., Grossi, S., Campomenosi, P., Buttari, F., Mauri, P., Uccelli, A., Salvetti, M., Brescia Morra, V., Vella, D., Galgani, M., Mottola, M., Zuccarelli, B., Lanzillo, R., Maniscalco, G. T., Centonze, D., de Candia, P., Matarese, G.

مصطلحات موضوعية: autoimmunity, dimethyl fumarate, leptin, metabolism, multiple sclerosi, proliferation, SLC7A11, starvation, Treg cell, xCT, Adult, Amino Acid Transport System y+, Cell Proliferation, Cells, Cultured, Female, Homeostasi, Human, Immune Tolerance, Male, Multiple Sclerosis, Relapsing-Remitting, NF-E2-Related Factor 2, T-Lymphocytes, Regulatory

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000672812100017; volume:54; issue:7; firstpage:1543; lastpage:1560; numberofpages:18; journal:IMMUNITY; https://hdl.handle.net/11588/872125Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107285625

الإتاحة: https://doi.org/10.1016/j.immuni.2021.04.014Test
https://hdl.handle.net/11588/872125Test

المؤلفون: Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M.

المصدر: American Journal of Human Genetics, 108, 2, pp. 346-356

مصطلحات موضوعية: Neuroinformatics, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest; https://hdl.handle.net/2066/231687Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://hdl.handle.net/2066/231687Test
https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest

المؤلفون: Colamatteo A., Maggioli E., Loiola R. A., Sheikh M. H., Cali G., Bruzzese D., Maniscalco G. T., Centonze D., Buttari F., Lanzillo R., Perna F., Zuccarelli B., Mottola M., Cassano S., Galgani M., Solito E., De Rosa V.

المساهمون: Colamatteo, A, Maggioli, E, Loiola, Ra, Sheikh, Mh, Cali, G, Bruzzese, D, Maniscalco, Gt, Centonze, D, Buttari, F, Lanzillo, R, Perna, F, Zuccarelli, B, Mottola, M, Cassano, S, Galgani, M, Solito, E, De Rosa, V

مصطلحات موضوعية: Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31462505; info:eu-repo/semantics/altIdentifier/wos/WOS:000487578500009; volume:203; issue:7; firstpage:1753; lastpage:1765; numberofpages:13; journal:THE JOURNAL OF IMMUNOLOGY; http://hdl.handle.net/2108/239554Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072627265; https://www.jimmunol.org/content/203/7/1753.longTest

الإتاحة: https://doi.org/10.4049/jimmunol.1801683Test
http://hdl.handle.net/2108/239554Test
https://www.jimmunol.org/content/203/7/1753.longTest

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., Mcwalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

المساهمون: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Université de Lausanne = University of Lausanne (UNIL), Washington University in Saint Louis (WUSTL), GeneDx Gaithersburg, MD, USA, Université Bourgogne Franche-Comté COMUE (UBFC), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Groupe Hospitalier Bretagne Sud (GHBS), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Ambry Genetics Aliso Viejo, CA, USA, University of Kansas Lawrence (KU), Maastricht University Maastricht

المصدر: ISSN: 1018-4813.

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

العلاقة: hal-03131485; https://hal.science/hal-03131485Test

الإتاحة: https://hal.science/hal-03131485Test

المؤلفون: Grimaldi M, Bevilacqua P, Iossa D, Cuccurullo S, Falca M, Naddeo B, Mininni V, UTILI, Riccardo, Zuccarelli B, Smeraglia R., DURANTE MANGONI, Emanuele

المساهمون: Grimaldi, M, Bevilacqua, P, Iossa, D, Cuccurullo, S, Falca, M, Naddeo, B, Mininni, V, DURANTE MANGONI, Emanuele, Utili, Riccardo, Zuccarelli, B, Smeraglia, R.

العلاقة: ispartofbook:Atti del 37° Congresso Nazionale AMCLI; 37° Congresso Nazionale AMCLI; http://hdl.handle.net/11591/162146Test

الإتاحة: http://hdl.handle.net/11591/162146Test

المؤلفون: Bruno, C., Mottola, M., Giaquinto, A., Vigorita, E., Brighel, F., Zuccarelli, B.

المصدر: Transfusion and Apheresis Science ; volume 50, page S10 ; ISSN 1473-0502

مصطلحات موضوعية: Hematology

الإتاحة: https://doi.org/10.1016/s1473-0502Test(14)50021-3
https://api.elsevier.com/content/article/PII:S1473050214500213?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1473050214500213?httpAccept=text/plainTest

المؤلفون: Mottola, M., Bruno, C., Brighel, F., Vigorita, E., Mininni, V., Giaquinto, A., Zuccarelli, B.

المصدر: Transfusion and Apheresis Science ; volume 50, page S24-S25 ; ISSN 1473-0502

مصطلحات موضوعية: Hematology

الإتاحة: https://doi.org/10.1016/s1473-0502Test(14)50057-2
https://api.elsevier.com/content/article/PII:S1473050214500572?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1473050214500572?httpAccept=text/plainTest

المؤلفون: Ammaturo, V, Perricone, C, Zuccarelli, B, Mininni, N, Colussi, L, Canazio, A, Palumbo, E

المصدر: Journal of International Medical Research ; volume 14, issue 4, page 185-187 ; ISSN 0300-0605 1473-2300

مصطلحات موضوعية: Biochemistry (medical), Cell Biology, Biochemistry, General Medicine

الإتاحة: https://doi.org/10.1177/030006058601400403Test