المؤلفون: Filomena, MC, Yamamoto, DL, Caremani, M, Kadarla, VK, Mastrototaro, G, Serio, S, Vydyanath, A, Mutarelli, M, Garofalo, A, Pertici, I, Knoll, R, Nigro, V, Luther, PK, Lieber, RL, Beck, MR, Linari, M, Bang, ML

المصدر: Journal of cachexia, sarcopenia and muscle. 11(1):169-194

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142171273

المؤلفون: Cesana M., Tufano G., Panariello F., Zampelli N., Soldati C., Mutarelli M., Montefusco S., Grieco G., Sepe L. V., Rossi B., Nusco E., Rossignoli G., Panebianco G., Merciai F., Salviati E., Sommella E. M., Campiglia P., Martello G., Cacchiarelli D., Medina D. L., Ballabio A.

المساهمون: Cesana, M., Tufano, G., Panariello, F., Zampelli, N., Soldati, C., Mutarelli, M., Montefusco, S., Grieco, G., Sepe, L. V., Rossi, B., Nusco, E., Rossignoli, G., Panebianco, G., Merciai, F., Salviati, E., Sommella, E. M., Campiglia, P., Martello, G., Cacchiarelli, D., Medina, D. L., Ballabio, A.

Relation: info:eu-repo/semantics/altIdentifier/pmid/38965447; info:eu-repo/semantics/altIdentifier/wos/WOS:001262224900001; journal:CELL DEATH AND DIFFERENTIATION; https://hdl.handle.net/11577/3528761

الاتاحة: https://hdl.handle.net/11577/3528761
https://doi.org/10.1038/s41418-024-01337-y

المؤلفون: Passaro F., de Martino I., Zambelli F., Benedetto G. D., Barbato M., D'Erchia A. M., Manzari C., Pesole G., Mutarelli M., Cacchiarelli D., Antonini D., Parisi S., Russo T.

المساهمون: Passaro, F., de Martino, I., Zambelli, F., Benedetto, G. D., Barbato, M., D'Erchia, A. M., Manzari, C., Pesole, G., Mutarelli, M., Cacchiarelli, D., Antonini, D., Parisi, S., Russo, T.

مصطلحات موضوعية: DNA methyltransferase, Dnmt3l, Yes-associated protein, differentiation, embryonic stem cell, ephemeron, epiblast-like stem cell, pluripotency, stemne, Adaptor Proteins, Signal Transducing, Animal, DNA (Cytosine-5-)-Methyltransferase, Mice, Mouse Embryonic Stem Cell, Signal Transduction, YAP-Signaling Protein, Cell Differentiation, DNA Methylation

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268382; info:eu-repo/semantics/altIdentifier/wos/WOS:000672866400117; volume:296; firstpage:100138; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; https://hdl.handle.net/11586/390701

الاتاحة: https://hdl.handle.net/11586/390701
https://doi.org/10.1074/jbc.ra120.015896

المؤلفون: Carapezza G., Cusi C., Rizzo E., Raddrizzani L., Di Bella S., Somaschini A., Leone A., Lupi R., Mutarelli M., Nigro V., Di Bernardo D., Magni P., Isacchi A., Bosotti R.

المساهمون: Carapezza G., Cusi C., Rizzo E., Raddrizzani L., Di Bella S., Somaschini A., Leone A., Lupi R., Mutarelli M., Nigro V., Di Bernardo D., Magni P., Isacchi A., Bosotti R.

مصطلحات موضوعية: Kinome gene expression, NGS RNA targeted panel

Relation: info:eu-repo/semantics/altIdentifier/pmid/31014245; info:eu-repo/semantics/altIdentifier/wos/WOS:000465402500006; volume:20; issue:1; numberofpages:12; journal:BMC GENOMICS; https://hdl.handle.net/10447/624035; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064637238

الاتاحة: https://hdl.handle.net/10447/624035
https://doi.org/10.1186/s12864-019-5676-3

المؤلفون: Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, F., Capra, V., Nigro, V., Zollino, M.

المساهمون: Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, F., Capra, V., Nigro, V., Zollino, M.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36797464; info:eu-repo/semantics/altIdentifier/wos/WOS:000939855800002; volume:31; firstpage:648; lastpage:653; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119309; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148354032

الاتاحة: https://hdl.handle.net/11567/1119309
https://doi.org/10.1038/s41431-023-01305-z

المؤلفون: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

المساهمون: Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

المصدر: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4

مصطلحات موضوعية: Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: Amenta, Simona, Marangi, Giuseppe, Orteschi, D., Frangella, Silvia, Gurrieri, Fiorella, Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, Massimiano, Carrella, D., Vitiello, G., Parenti, Gian Paolo, Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, Daniela, Romano, Maria Concetta, Tummolo, Aida Angela, De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, Federica, Capra, V., Nigro, V., Zollino, Marcella, Amenta S., Marangi G. (ORCID:0000-0002-6898-8882), Frangella S., Gurrieri F. (ORCID:0000-0002-6775-5972), Mutarelli M., Parenti G., Milani D., Romano C., Tummolo A., Romano F., Zollino M. (ORCID:0000-0003-4871-9519)

مصطلحات الفهرس: CHAMP1, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/232272
info:eu-repo/semantics/altIdentifier/pmid/36797464
info:eu-repo/semantics/altIdentifier/wos/WOS:000939855800002
issue:N/A
firstpage:N/A
lastpage:N/A
issueyear:2023
journal:EUROPEAN JOURNAL OF HUMAN GENETICS

المؤلفون: Giulitti, S, Pellegrini, M, Zorzan, I, Martini, P, Gagliano, O, Mutarelli, M, Ziller, MJ, Cacchiarelli, D, Romualdi, C, Elvassore, N, Martello, G

المصدر: Nature Cell Biology , 21 , Article 2. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10068776/1/Giulitti%20et%20al%20NCB.pdf; https://discovery.ucl.ac.uk/id/eprint/10068776/7/Figures.pdf; https://discovery.ucl.ac.uk/id/eprint/10068776/13/Integrated_Supp_figures.pdf; https://discovery.ucl.ac.uk/id/eprint/10068776/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10068776/1/Giulitti%20et%20al%20NCB.pdf
https://discovery.ucl.ac.uk/id/eprint/10068776/7/Figures.pdf
https://discovery.ucl.ac.uk/id/eprint/10068776/13/Integrated_Supp_figures.pdf
https://discovery.ucl.ac.uk/id/eprint/10068776/

المؤلفون: Cesana, M., Tufano, G., Panariello, F., Zampelli, N., Ambrosio, S., De Cegli, R., Mutarelli, M., Vaccaro, L., Ziller, M., Cacchiarelli, D., Medina, D., Ballabio, A.

المصدر: PLOS BIOLOGY

Relation: http://hdl.handle.net/21.11116/0000-000D-0737-E

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-0737-E

المؤلفون: Musacchia, F., Ciolfi, A., Mutarelli, M., Bruselles, A., Castello, R., Pinelli, M., Basu, S., Banfi, S., Casari, G., Tartaglia, M., Nigro, V.

المساهمون: Fondazione Telethon

المصدر: BMC Bioinformatics ; volume 19, issue 1 ; ISSN 1471-2105

الاتاحة: http://dx.doi.org/10.1186/s12859-018-2532-4
http://link.springer.com/content/pdf/10.1186/s12859-018-2532-4.pdf
http://link.springer.com/article/10.1186/s12859-018-2532-4/fulltext.html

المؤلفون: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.

المساهمون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi, Nagata, Koh-Ichi

المصدر: Brain : a journal of neurology, vol 145, iss 9
BRAIN

مصطلحات موضوعية: brain development, Settore MED/03 - GENETICA MEDICA, Medical and Health Sciences, Telethon Undiagnosed Diseases Program, Mice, Neurodevelopmental Disorder, Medicine and Health Sciences, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Neurons, Pediatric, neuronal migration, Neurology & Neurosurgery, Animal, axon guidance, Psychology and Cognitive Sciences, p21-Activated Kinase, Neurosciences, Biology and Life Sciences, Undiagnosed Diseases Network, Neuron, rac GTP-Binding Proteins, Brain Disorders, RAC3, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, small GTPase, Neurological, Congenital Structural Anomalies, Neurology (clinical), Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949
https://escholarship.org/uc/item/6xw4z6x0

المؤلفون: Carrella D., Manni I., Tumaini B., Dattilo R., Papaccio F., Mutarelli M., Sirci F., Amoreo C. A., Mottolese M., Iezzi M., Ciolli L., Aria V., Bosotti R., Isacchi A., Loreni F., Bardelli A., Avvedimento V. E., di Bernardo D., Cardone L.

المساهمون: Carrella, D, Manni, I, Tumaini, B, Dattilo, R, Papaccio, F, Mutarelli, M, Sirci, F, Amoreo, Ca, Mottolese, M, Iezzi, M, Ciolli, L, Aria, V, Bosotti, R, Isacchi, A, Loreni, F, Bardelli, A, Avvedimento, Ve, di Bernardo, D, Cardone, L

مصطلحات موضوعية: FDA-approved drug, PI3K-dependent pathway, drugs network, gene expression signature, oncogene, Animal, Antineoplastic Agent, Breast Neoplasm, Carcinogenesi, Cell Line, Tumor, Drug Approval, Female, Human, Mammary Gland, Mice, Niclosamide, Phosphatidylinositol 3-Kinase, Proto-Oncogene Proteins c-akt, Pyrvinium Compound, Ribosomal Protein S6 Kinases 70-kDa, Signal Transduction, Computational Biology, Drug Repositioning, Settore BIO/11 - BIOLOGIA MOLECOLARE

Relation: info:eu-repo/semantics/altIdentifier/pmid/27542212; info:eu-repo/semantics/altIdentifier/wos/WOS:000387153900003; volume:7; issue:37; firstpage:58743; lastpage:58758; numberofpages:16; journal:ONCOTARGET; http://hdl.handle.net/2108/210523; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991386993

الاتاحة: http://hdl.handle.net/2108/210523
https://doi.org/10.18632/oncotarget.11318

المؤلفون: Parrillo, L., Spinelli, R., Longo, M., Desiderio, A., Mirra, P., Nigro, C., Fiory, F., Hedjazifar, Shahram, 1975, Mutarelli, M., Carissimo, A., Formisano, P., Miele, C., Smith, Ulf, 1943, Raciti, G. A., Beguinot, F.

المصدر: Epigenomics. 12(10):873-888

مصطلحات موضوعية: Endocrinology and Diabetes, Endokrinologi och diabetes, adipose tissue, DNA methylation, epigenetics, gene expression, pre-adipocyte, Type 2 diabetes, white adipose-tissue, tyrosine-phosphatase, insulin sensitivity, family-history, stem-cells, risk, differentiation, preadipocyte, obesity, dnmt3a, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/297149

المؤلفون: Moros M., Fergola E., Marchesano V., Mutarelli M., Tommasini G., Miedziak B., Palumbo G., Ambrosone A., Tino A., Tortiglione C.

المساهمون: Moros, M., Fergola, E., Marchesano, V., Mutarelli, M., Tommasini, G., Miedziak, B., Palumbo, G., Ambrosone, A., Tino, A., Tortiglione, C.

مصطلحات موضوعية: aquatic invertebrate model, cell-cell communication, exosome, extracellular vesicle, Hydra vulgari, RNA-seq

Relation: info:eu-repo/semantics/altIdentifier/pmid/34988080; info:eu-repo/semantics/altIdentifier/wos/WOS:000738866200001; volume:9; firstpage:788117; lastpage:788127; numberofpages:11; journal:FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY; http://hdl.handle.net/11386/4776860; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122129666

الاتاحة: http://hdl.handle.net/11386/4776860
https://doi.org/10.3389/fcell.2021.788117

المؤلفون: Ciaccio C., Duga V., Pantaleoni C., Esposito S., Moroni I., Pinelli M., Castello R., Nigro V., Chiapparini L., D'Arrigo S., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C.

المساهمون: Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C.

مصطلحات موضوعية: Ataxia, DNA-Repair, Intellectual disability, Microcephaly, TELO2, Abnormalities, Multiple, Adolescent, Developmental Disabilitie, Female, Homozygote, Human, Pedigree, Syndrome, Young Adult, Mutation, Missense, Phenotype

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000612309700002; volume:64; issue:1; firstpage:104116; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11588/854977; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097802155

الاتاحة: http://hdl.handle.net/11588/854977
https://doi.org/10.1016/j.ejmg.2020.104116

المؤلفون: Pinelli, M, Carissimo, A, Cutillo, L, Lai, C-H, Mutarelli, M, Moretti, MN, Singh, MV, Karali, M, Carrella, D, Pizzo, M, Russo, F, Ferrari, S, Ponzin, D, Angelini, C, Banfi, S, di Bernardo, D

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/143858/1/An%20atlas%20of%20gene%20expression%20and%20gene%20co-regulation%20in%20the%20human%20retina.pdf; Pinelli, M, Carissimo, A, Cutillo, L orcid.org/0000-0002-2205-0338 et al. (13 more authors) (2016) An atlas of gene expression and gene co-regulation in the human retina. Nucleic Acids Research, 44 (12). pp. 5773-5784. ISSN 0305-1048

الاتاحة: https://eprints.whiterose.ac.uk/143858/
https://eprints.whiterose.ac.uk/143858/1/An%20atlas%20of%20gene%20expression%20and%20gene%20co-regulation%20in%20the%20human%20retina.pdf

المؤلفون: Cappuccio G., Sayou C., Tanno P. L., Tisserant E., Bruel A. -L., Kennani S. E., Sa J., Low K. J., Dias C., Havlovicova M., Hancarova M., Eichler E. E., Devillard F., Moutton S., Van-Gils J., Dubourg C., Odent S., Gerard B., Piton A., Yamamoto T., Okamoto N., Firth H., Metcalfe K., Moh A., Chapman K. A., Aref-Eshghi E., Kerkhof J., Torella A., Nigro V., Perrin L., Piard J., Le Guyader G., Jouan T., Thauvin-Robinet C., Duffourd Y., George-Abraham J. K., Buchanan C. A., Williams D., Kini U., Wilson K., Brunetti-Pierri N., Casari G., Pinelli M., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Capra V., Parenti G., Leuzzi V., Selicorni A., Maitz S., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., Peron A., Pantaleoni C., Castello R., D'Arrigo S., Sousa S. B., Hennekam R. C. M., Sadikovic B., Thevenon J., Govin J., Vitobello A.

المساهمون: Cappuccio, G., Sayou, C., Tanno, P. L., Tisserant, E., Bruel, A. -L., Kennani, S. E., Sa, J., Low, K. J., Dias, C., Havlovicova, M., Hancarova, M., Eichler, E. E., Devillard, F., Moutton, S., Van-Gils, J., Dubourg, C., Odent, S., Gerard, B., Piton, A., Yamamoto, T., Okamoto, N., Firth, H., Metcalfe, K., Moh, A., Chapman, K. A., Aref-Eshghi, E., Kerkhof, J., Torella, A., Nigro, V., Perrin, L., Piard, J., Le Guyader, G., Jouan, T., Thauvin-Robinet, C., Duffourd, Y., George-Abraham, J. K., Buchanan, C. A., Williams, D., Kini, U., Wilson, K., Brunetti-Pierri, N., Casari, G., Pinelli, M., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Capra, V., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S., Sousa, S. B., Hennekam, R. C. M., Sadikovic, B., Thevenon, J., Govin, J., Vitobello, A.

مصطلحات موضوعية: BIS, intellectual disability, neurodevelopmental disorder, Nicolaides–Baraitser syndrome, SMARCA2

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000551054300001; volume:22; issue:11; firstpage:1838; lastpage:1850; numberofpages:13; journal:GENETICS IN MEDICINE; http://hdl.handle.net/20.500.11768/108963

الاتاحة: https://hdl.handle.net/20.500.11768/108963
https://doi.org/10.1038/s41436-020-0898-y

المؤلفون: Pastore N., Huynh T., Herz N. J., Calcagni' A., Klisch T. J., Brunetti L., Kim K. H., De Giorgi M., Hurley A., Carissimo A., Mutarelli M., Aleksieva N., D'Orsi L., Lagor W. R., Moore D. D., Settembre C., Finegold M. J., Forbes S. J., Ballabio A.

المساهمون: Pastore, N., Huynh, T., Herz, N. J., Calcagni', A., Klisch, T. J., Brunetti, L., Kim, K. H., De Giorgi, M., Hurley, A., Carissimo, A., Mutarelli, M., Aleksieva, N., D'Orsi, L., Lagor, W. R., Moore, D. D., Settembre, C., Finegold, M. J., Forbes, S. J., Ballabio, A.

مصطلحات موضوعية: Animal, Basic Helix-Loop-Helix Leucine Zipper Transcription Factor, Bile Duct Neoplasm, Bile Duct, Cell Differentiation, Cell Proliferation, Cholangiocarcinoma, Down-Regulation, Hepatocyte, Liver, Mice, Inbred C57BL, Transgenic, Models, Biological, Phenotype, Promoter Regions, Genetic, Protein Binding, Regeneration, SOX9 Transcription Factor, Spheroids, Cellular, Stem Cell, Up-Regulation, Cell Lineage

Relation: info:eu-repo/semantics/altIdentifier/pmid/32424153; info:eu-repo/semantics/altIdentifier/wos/WOS:000536698500004; volume:11; issue:1; firstpage:2461; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11391/1475150; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084884067

الاتاحة: http://hdl.handle.net/11391/1475150
https://doi.org/10.1038/s41467-020-16300-x

المؤلفون: Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, Marcella, Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Zollino M. (ORCID:0000-0003-4871-9519)

مصطلحات الفهرس: Ataxia, DNA-Repair, Intellectual disability, Microcephaly, TELO2, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/179357
info:eu-repo/semantics/altIdentifier/pmid/33307281
info:eu-repo/semantics/altIdentifier/wos/WOS:000612309700002
volume:64
issue:1
firstpage:N/A
lastpage:N/A
numberofpages:104116
issueyear:2021
journal:EUROPEAN JOURNAL OF MEDICAL GENETICS

المؤلفون: Ciaccio C., Castello R., Esposito S., Pinelli M., Nigro V., Casari G., Chiapparini L., Pantaleoni C., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., D'Arrigo S.

المساهمون: Ciaccio, C., Castello, R., Esposito, S., Pinelli, M., Nigro, V., Casari, G., Chiapparini, L., Pantaleoni, C., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., D'Arrigo, S.

مصطلحات موضوعية: Cerebellar atrophy, Pediatric ataxia, SCAR23, Spinocerebellar ataxia, TDP2

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000487811100015; volume:18; issue:5; firstpage:972; lastpage:975; numberofpages:4; journal:CEREBELLUM; http://hdl.handle.net/20.500.11768/94558; http://www.springerlink.com/content/120973/

الاتاحة: https://hdl.handle.net/20.500.11768/94558
https://doi.org/10.1007/s12311-019-01069-7
http://www.springerlink.com/content/120973/