المؤلفون: Salvatore M., Torreri P., Grugni G., Rocchetti A., Maghnie M., Patti G., Crino A., Elia M., Greco D., Romano C., Franzese A., Mozzillo E., Colao A., Pugliese G., Pagotto U., Lo Preiato V., Scarano E., Schiavariello C., Tornese G., Fintini D., Bocchini S., Osimani S., De Sanctis L., Sacco M., Rutigliano I., Delvecchio M., Faienza M. F., Wasniewska M., Corica D., Stagi S., Guazzarotti L., Maffei P., Dassie F., Taruscio D.

المساهمون: Salvatore, M., Torreri, P., Grugni, G., Rocchetti, A., Maghnie, M., Patti, G., Crino, A., Elia, M., Greco, D., Romano, C., Franzese, A., Mozzillo, E., Colao, A., Pugliese, G., Pagotto, U., Lo Preiato, V., Scarano, E., Schiavariello, C., Tornese, G., Fintini, D., Bocchini, S., Osimani, S., De Sanctis, L., Sacco, M., Rutigliano, I., Delvecchio, M., Faienza, M. F., Wasniewska, M., Corica, D., Stagi, S., Guazzarotti, L., Maffei, P., Dassie, F., Taruscio, D.

مصطلحات موضوعية: Genetic disease, Prader–Willi syndrome, Quality, Rare disease, Registry

Relation: info:eu-repo/semantics/altIdentifier/pmid/36793093; info:eu-repo/semantics/altIdentifier/wos/WOS:000937162000001; volume:18; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11586/420756

الاتاحة: https://hdl.handle.net/11586/420756
https://doi.org/10.1186/s13023-023-02633-5

المؤلفون: Pallucca R., Visconti S., Camoni L., Cesareni G., Melino S., Panni S., Torreri P., Aducci P.

المساهمون: Pallucca, R, Visconti, S, Camoni, L, Cesareni, G, Melino, S, Panni, S, Torreri, P, Aducci, P

مصطلحات موضوعية: Settore BIO/04 - FISIOLOGIA VEGETALE

Relation: info:eu-repo/semantics/altIdentifier/pmid/24603559; volume:9; issue:3; journal:PLOS ONE; https://hdl.handle.net/2108/313508; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84897139622

الاتاحة: https://hdl.handle.net/2108/313508
https://doi.org/10.1371/journal.pone.0090764

المؤلفون: Martinelli, S, Nardozza, A, Delle Vigne, S, Sabetta, G, Torreri, P, Flex, E, Venanzi, S, Gelb, B, Tartaglia, M., BOCCHINFUSO, GIANFRANCO, PALLESCHI, ANTONIO, CESARENI, GIOVANNI, STELLA, LORENZO, CASTAGNOLI, LUISA

المساهمون: Martinelli, S, Nardozza, A, Delle Vigne, S, Sabetta, G, Torreri, P, Bocchinfuso, G, Flex, E, Venanzi, S, Palleschi, A, Gelb, B, Cesareni, G, Stella, L, Castagnoli, L, Tartaglia, M

مصطلحات موضوعية: Phosphorylation, Models, Molecular, Human, Molecular Sequence Data, Amino Acid Sequence, Noonan Syndrome, Molecular Dynamics Simulation, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Mutation, src Homology Domains, Settore BIO/18 - GENETICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/22711529; info:eu-repo/semantics/altIdentifier/wos/WOS:000307386000059; volume:287; issue:32; firstpage:27066; lastpage:27077; journal:JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/2108/77073; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864550789

الاتاحة: http://hdl.handle.net/2108/77073
https://doi.org/10.1074/jbc.M112.350231

المؤلفون: Benvegnù, Stefano, Legname, Giuseppe, Franciotta, D., Sussman, J., Bachi, A., Zardini, E., Torreri, P., Govaerts, C., Pizzo, S.

المساهمون: Benvegnù, Stefano, Franciotta, D., Sussman, J., Bachi, A., Zardini, E., Torreri, P., Govaerts, C., Pizzo, S., Legname, Giuseppe

Relation: info:eu-repo/semantics/altIdentifier/pmid/19536284; info:eu-repo/semantics/altIdentifier/wos/WOS:000267079500015; volume:4; issue:6; firstpage:1; lastpage:12; numberofpages:12; journal:PLOS ONE; http://hdl.handle.net/20.500.11767/14573; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67650105637

الاتاحة: https://hdl.handle.net/20.500.11767/14573
https://doi.org/10.1371/journal.pone.0005968

المؤلفون: Kodra Y., Minelli G., Rocchetti A., Manno V., Carinci A., Conti S., Taruscio D., Lombardi G., Palka G., Angione A., Tripaldi D., Barone R., Andria G., Della Casa R., Fecarotta S., Scala I., Vizioli M., Volta M., Bembi B., Deroma L., Di Lallo D., Castronuovo E., Pignocco M., Rossi M., Bottanelli L., Daina E., Gamba S., Gabrielli O., Di Nunzio M. L., Annicchiarico G., Malerba M., Baldovino S., Roccatello D., Antonelli A., Moi P., Palmas M. A., Porcu R., Scondotto S., Bianchi F., Pierini A., Pieroni F., Casucci P., Checconi O., Patisso M. C., Facchin P., Mazzucato M., Benedicenti F., Melani C., Zuech P., Di Palma A., Pedrolli A., Torreri P., Vitozzi L., Ferrari L., Borsellino L.

المساهمون: Kodra, Y., Minelli, G., Rocchetti, A., Manno, V., Carinci, A., Conti, S., Taruscio, D., Lombardi, G., Palka, G., Angione, A., Tripaldi, D., Barone, R., Andria, G., Della Casa, R., Fecarotta, S., Scala, I., Vizioli, M., Volta, M., Bembi, B., Deroma, L., Di Lallo, D., Castronuovo, E., Pignocco, M., Rossi, M., Bottanelli, L., Daina, E., Gamba, S., Gabrielli, O., Di Nunzio, M. L., Annicchiarico, G., Malerba, M., Baldovino, S., Roccatello, D., Antonelli, A., Moi, P., Palmas, M. A., Porcu, R., Scondotto, S., Bianchi, F., Pierini, A., Pieroni, F., Casucci, P., Checconi, O., Patisso, M. C., Facchin, P., Mazzucato, M., Benedicenti, F., Melani, C., Zuech, P., Di Palma, A., Pedrolli, A., Torreri, P., Vitozzi, L., Ferrari, L., Borsellino, L.

مصطلحات موضوعية: Hereditary haemorragic telangiectasia, hospital discharge, Huntington disease, incidence rate ratio, Prader-Willi syndrome, rare diseases registry

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29294017; info:eu-repo/semantics/altIdentifier/wos/WOS:000467912400013; volume:41; issue:1; firstpage:46; lastpage:54; numberofpages:9; journal:JOURNAL OF PUBLIC HEALTH; http://hdl.handle.net/11577/3393905; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064826911

الاتاحة: http://hdl.handle.net/11577/3393905
https://doi.org/10.1093/pubmed/fdx176

المؤلفون: Gainotti, S., Torreri, P., Wang, C.M., Reihs, R., Mueller, H., Heslop, E., Roos, M., Badowska, D.M., Paulis, F. de, Kodra, Y., Carta, C., Martin, E.L., Miller, V.R., Filocamo, M., Mora, M., Thompson, M., Rubinstein, Y., Paz, M.P. de la, Monaco, L., Lochmuller, H., Taruscio, D.

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945774/; lumc-id: 57330600; https://hdl.handle.net/1887/86527

الاتاحة: https://hdl.handle.net/1887/86527
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945774/
https://doi.org/10.1038/s41431-017-0085-z

المؤلفون: Kodra, Y., Weinbach, J., Posada-de-la-Paz, M., Coi, A., Lemonnier, S.L., Enckevort, D. van, Roos, M., Jacobsen, A., Cornet, R., Ahmed, S.F., Bros-Facer, V., Popa, V., Meel, M. van, Renault, D., Gizycki, R. von, Santoro, M., Landais, P., Torreri, P., Carta, C., Mascalzoni, D., Gainotti, S., Lopez, E., Ambrosini, A., Muller, H., Reis, R., Bianchi, F., Rubinstein, Y.R., Lochmuller, H., Taruscio, D.

المصدر: International Journal of Environmental Research and Public Health

مصطلحات موضوعية: rare diseases, patient registry, quality

وصف الملف: application/pdf

Relation: https://www.mdpi.com/1660-4601/15/8/1644; lumc-id: 57330433; https://hdl.handle.net/1887/86526

الاتاحة: https://hdl.handle.net/1887/86526
https://www.mdpi.com/1660-4601/15/8/1644
https://doi.org/10.3390/ijerph15081644

المؤلفون: Sabetta, G, Martinelli, S, Torreri, P, Tartaglia, M, BOCCHINFUSO, GIANFRANCO, PALLESCHI, ANTONIO, STELLA, LORENZO

المساهمون: Sabetta, G, Bocchinfuso, G, Martinelli, S, Torreri, P, Palleschi, A, Tartaglia, M, Stella, L

مصطلحات موضوعية: Settore CHIM/02 - CHIMICA FISICA

Relation: Congresso Nazionale 2010 della Divisione di Chimica dei Sistemi Biologici della Società Chimica Italiana; http://hdl.handle.net/2108/11680

الاتاحة: http://hdl.handle.net/2108/11680

المؤلفون: Martinelli, S., Torreri, P., Flex, E., Grottesi, A., Chillemi, G., Ceccarini, M., Gelb, BD, Petrucci, TC, Tartaglia, M., BOCCHINFUSO, GIANFRANCO, STELLA, LORENZO, PALLESCHI, ANTONIO

المساهمون: Martinelli, S, Torreri, P, Bocchinfuso, G, Stella, L, Flex, E, Grottesi, A, Chillemi, G, Ceccarini, M, Palleschi, A, Gelb, B, Petrucci, T, Tartaglia, M

مصطلحات موضوعية: Noonan syndrome, PTPN11, SHP-2, Settore CHIM/02 - CHIMICA FISICA

Relation: ispartofbook:Genetics Conference 2007; European Human Genetics Conference 2007. 16-19 Novembre 2007.; firstpage:P0821; http://hdl.handle.net/2108/36311

الاتاحة: http://hdl.handle.net/2108/36311

المؤلفون: Turco E, Ventura I, Minoprio A, Russo MT, Torreri P, Degan P, Molatore S, Ranzani GN, Bignami M, Mazzei F.

المساهمون: Turco, E, Ventura, I, Minoprio, A, Russo, Mt, Torreri, P, Degan, P, Molatore, S, Ranzani, Gn, Bignami, M, Mazzei, F.

مصطلحات موضوعية: DNA repair, MUTYH-associated polyposi, MUTYH mutants

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23460202; info:eu-repo/semantics/altIdentifier/wos/000318167900028; volume:41; issue:7; firstpage:4093; lastpage:4103; numberofpages:11; journal:NUCLEIC ACIDS RESEARCH; http://hdl.handle.net/11571/649013; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84876552334; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627602/

الاتاحة: http://hdl.handle.net/11571/649013
https://doi.org/10.1093/nar/gkt130
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627602/

المؤلفون: D'AGOSTINO, VITO GIUSEPPE, ALBERTINI, ALESSANDRA, RANZANI, GUGLIELMINA, Minoprio A, Torreri P, Marinoni I, Bossa C, Petrucci TC, Bignami M, Mazzei F.

المساهمون: D'Agostino, VITO GIUSEPPE, Minoprio, A, Torreri, P, Marinoni, I, Bossa, C, Petrucci, Tc, Albertini, Alessandra, Ranzani, Guglielmina, Bignami, M, Mazzei, F.

مصطلحات موضوعية: DNA repair, MUTYH-associated polyposi, MUTYH mutant, Surface plasmon resonance, DNA glycosylase assay

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20418187; info:eu-repo/semantics/altIdentifier/wos/WOS:000279304800012; volume:9; firstpage:700; lastpage:707; journal:DNA REPAIR; http://hdl.handle.net/11571/208142; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77952582935; http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6X17-4YXMP2P-2&_user=3719172&_coverDate=04%2F24%2F2010&_rdoc=1&_fmt=high&_orig=search&_sort=d&_docanchor=&view=c&_acct=C000061210&_version=1&_urlVersion=0&_userid=3719172&md5=63627e820fb07e946ad8209f33768d34

الاتاحة: http://hdl.handle.net/11571/208142
https://doi.org/10.1016/j.dnarep.2010.03.008
http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6X17-4YXMP2P-2&_user=3719172&_coverDate=04%2F24%2F2010&_rdoc=1&_fmt=high&_orig=search&_sort=d&_docanchor=&view=c&_acct=C000061210&_version=1&_urlVersion=0&_userid=3719172&md5=63627e820fb07e946ad8209f33768d34

المؤلفون: Martinelli, S, Torreri, P, Tinti, M, Flex, E, Grottesi, A, Ceccarini, M, Petrucci, TC, Gelb, BD, Tartaglia, M., STELLA, LORENZO, BOCCHINFUSO, GIANFRANCO, PALLESCHI, ANTONIO, CESARENI, GIOVANNI, CASTAGNOLI, LUISA

المساهمون: Martinelli, S, Torreri, P, Tinti, M, Stella, L, Bocchinfuso, G, Flex, E, Grottesi, A, Ceccarini, M, Palleschi, A, Cesareni, G, Castagnoli, L, Petrucci, T, Gelb, B, Tartaglia, M

مصطلحات موضوعية: alanine, aspartic acid, cytosine, glutamic acid, isoleucine, methionine, phosphopeptide, protein tyrosine phosphatase SHP 2, threonine, valine, amino acid substitution, article, binding affinity, biochemistry, catalysi, codon, controlled study, deamination, developmental disorder, gene mutation, human, human cell, LEOPARD syndrome, ligand binding, methylation, molecular recognition, Noonan syndrome, nucleic acid base substitution, pathogenesi, phenotype

Relation: info:eu-repo/semantics/altIdentifier/pmid/18372317; info:eu-repo/semantics/altIdentifier/wos/WOS:000256978200014; volume:17; issue:13; firstpage:2018; lastpage:2029; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2108/27753; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-45749117233

الاتاحة: http://hdl.handle.net/2108/27753
https://doi.org/10.1093/hmg/ddn099

المؤلفون: PIZZITUTTI F., ORNAGHI P., TORRERI P., FILETICI P., GIANSANTI, Andrea, BALLARIO, Paola, CICCOTTI, Giovanni

المساهمون: Pizzitutti, F., Giansanti, Andrea, Ballario, Paola, Ornaghi, P., Torreri, P., Ciccotti, Giovanni, Filetici, P.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16180204; info:eu-repo/semantics/altIdentifier/wos/WOS:000234691500001; volume:19; firstpage:1; lastpage:9; journal:JOURNAL OF MOLECULAR RECOGNITION; http://hdl.handle.net/11573/236256; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-31144470854; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000234691500001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-31144470854&partnerID=65&md5=2a7b3888fda6d22c784b38777e0e56ef

الاتاحة: http://hdl.handle.net/11573/236256
https://doi.org/10.1002/jmr.748
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000234691500001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-31144470854&partnerID=65&md5=2a7b3888fda6d22c784b38777e0e56ef

المؤلفون: Martinelli, S, Torreri, P, Bocchinfuso, G, Stella, L, Flex, E, Grottesi, A, Chillemi, G, Ceccarini, M, Palleschi, A, Gelb, B, Petrucci, T, Tartaglia, M

مصطلحات موضوعية: SHP-2, Noonan syndrome, PTPN11, SHP-2, Noonan syndrome, PTPN11, Settore CHIM/02 - Chimica Fisica

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3667::24ce37cecd8d3575aac98406fb536058
http://hdl.handle.net/2108/36311

المؤلفون: Bozzi M., Sciandra F., Ferri L., Torreri P., Pavoni E., Petrucci T.C., Giardina B., Brancaccio A.

المصدر: The FEBS journal
273 (2006): 4929–4943.
info:cnr-pdr/source/autori:Bozzi M., Sciandra F., Ferri L., Torreri P., Pavoni E., Petrucci T.C., Giardina B., Brancaccio A./titolo:Concerted mutation of Phe residues belonging to the beta-dystroglycan ectodomain strongly inhibits the interaction with alpha-dystroglycan in vitro/doi:/rivista:The FEBS journal (Print)/anno:2006/pagina_da:4929/pagina_a:4943/intervallo_pagine:4929–4943/volume:273

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, musculoskeletal system, tissues

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::ef525f6def52f30ea29156d3d4c06946
https://publications.cnr.it/doc/17427

المؤلفون: Macioce, P., Gambara, G., Bernassola, M., Gaddini, L., Torreri, P., Macchia, G., Ramoni, C., Ceccarini, M., Petrucci, T.C.

المصدر: Journal of Cell Science; 12/1/2003, Vol. 116 Issue 23, p4847-4856, 9p, 6 Color Photographs, 11 Black and White Photographs, 2 Diagrams, 1 Chart

مصطلحات موضوعية: PROTEINS, MUSCLES, KINESIN, BRAIN, KIDNEYS, LIVER

المؤلفون: Caprini, Elisabetta, Cristofoletti, Cristina, Arcelli, Diego, Fadda, Paolo, Citterich, Mauro Helmer, Sampogna, Francesca, Magrelli, Armando, Torreri, Paola, Censi, Federica, Frontani, Marina, Scala, Enrico, Picchio, Maria Cristina, Monopoli, Alessandro, Lombardo, Giuseppe Alfonso, Taruscio, Domenica, Narducci, Maria Grazia, Russo, Giandomenico

المصدر: Blood; November 2009, Vol. 114 Issue: 22 p3238-3238, 1p