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

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(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/11287/621979

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

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

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

الاتاحة: http://hdl.handle.net/21.11116/0000-0007-623A-A
http://hdl.handle.net/21.11116/0000-0007-F4E7-1

المؤلفون: Procaccini, C, Garavelli, S, Carbone, F, Di Silvestre, D, La Rocca, C, Greco, D, Colamatteo, A, Lepore, M, 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, Centonze, D, de Candia, P, Matarese, G, 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 الفهرس: autoimmunity, dimethyl fumarate, leptin, metabolism, multiple sclerosi, proliferation, SLC7A11, starvation, Treg cell, xCT, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/504979
info:eu-repo/semantics/altIdentifier/pmid/34004141
info:eu-repo/semantics/altIdentifier/wos/WOS:000672812100017
volume:54
issue:7
firstpage:1543
lastpage:1560
numberofpages:18
journal:IMMUNITY

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, 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, Centonze, D, de Candia, P, Matarese, G

مصطلحات موضوعية: autoimmunity, dimethyl fumarate, leptin, metabolism, multiple sclerosi, proliferation, SLC7A11, starvation, Treg cell, xCT

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34004141; info:eu-repo/semantics/altIdentifier/wos/WOS:000672812100017; volume:54; issue:7; firstpage:1543; lastpage:1560; numberofpages:18; journal:IMMUNITY; https://hdl.handle.net/10281/504979; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107285625

الاتاحة: https://hdl.handle.net/10281/504979
https://doi.org/10.1016/j.immuni.2021.04.014

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; 346; 356; 0002-9297; 2; 108; ~American Journal of Human Genetics~346~356~~~0002-9297~2~108~~

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

Relation: 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/2108/239554; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072627265; https://www.jimmunol.org/content/203/7/1753.long

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

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]

Relation: hal-03131485; https://hal.science/hal-03131485

الاتاحة: https://hal.science/hal-03131485

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.

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

الاتاحة: http://hdl.handle.net/11591/162146

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

الاتاحة: http://dx.doi.org/10.1016/s1473-0502(14)50021-3
https://api.elsevier.com/content/article/PII:S1473050214500213?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1473050214500213?httpAccept=text/plain

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

الاتاحة: http://dx.doi.org/10.1016/s1473-0502(14)50057-2
https://api.elsevier.com/content/article/PII:S1473050214500572?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1473050214500572?httpAccept=text/plain

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

الاتاحة: https://doi.org/10.1177/030006058601400403
https://journals.sagepub.com/doi/pdf/10.1177/030006058601400403

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L., 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., 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., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Blok, L.S., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J.H., 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: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction; [preprint] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

مصطلحات الفهرس: journal article

URL: https://radar.brookes.ac.uk/radar/items/d4804dd5-94e2-433d-8d15-76ad27e05471/1/

المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Guex, N., Snijders Blok, L., 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., Rosenfeld, J., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Hamzavi Abedi, Y., Bonagura, V., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A., Granger, L., Petersen, A., Jones, K., Sinnema, M., Stegmann, A., Newbury-Ecob, R., Kini, U., Newbury, D., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L., Fisher, S.

المساهمون: The DDD study

Relation: http://hdl.handle.net/21.11116/0000-0007-8122-0

الاتاحة: http://hdl.handle.net/21.11116/0000-0007-8122-0

المؤلفون: Maria Lepore, Dario Di Silvestre, Fabio Buttari, Claudia La Rocca, Antonio Uccelli, Paola de Candia, Giuseppe Matarese, Danila Vella, Alessandra Colamatteo, Giusy De Rosa, Pierluigi Mauri, Sarah Grossi, Claudia Russo, Roberta Lanzillo, Vincenzo Brescia Morra, Mario Galgani, Maria Mottola, Giorgia Teresa Maniscalco, Paola Campomenosi, Claudio Procaccini, Diego Centonze, Marco Salvetti, Silvia Garavelli, Deriggio Faicchia, Bruno Zuccarelli, Francesco Prattichizzo, Fortunata Carbone, Dario Greco

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: 0301 basic medicine, Male, Antiporter, T-Lymphocytes, SLC7A11, Relapsing-Remitting, medicine.disease_cause, T-Lymphocytes, Regulatory, Autoimmunity, 0302 clinical medicine, Immunology and Allergy, Homeostasis, Cells, Cultured, Cultured, dimethyl fumarate, biology, autoimmunity, Glutamate receptor, hemic and immune systems, Regulatory, Transmembrane protein, Cell biology, Infectious Diseases, 030220 oncology & carcinogenesis, multiple sclerosi, Female, Human, leptin, metabolism, multiple sclerosis, proliferation, starvation, Treg cells, xCT, Adult, Amino Acid Transport System y+, Cell Proliferation, Humans, Immune Tolerance, Multiple Sclerosis, Relapsing-Remitting, NF-E2-Related Factor 2, Multiple Sclerosis, Cells, Immunology, chemical and pharmacologic phenomena, Settore MED/26, 03 medical and health sciences, Homeostasi, medicine, Amino acid transporter, Treg cell, Solute carrier family, 030104 developmental biology, biology.protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f3c13d23032fcd9ec99a596f52b0ea
http://hdl.handle.net/11588/872125