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المؤلفون: Laura Botta, Gemma Gatta, Riccardo Capocaccia, Charles Stiller, Adela Cañete, Luigino Dal Maso, Kaire Innos, Ana Mihor, Friederike Erdmann, Claudia Spix, Brigitte Lacour, Rafael Marcos-Gragera, Deirdre Murray, Silvia Rossi, Monika Hackl, Elizabeth Van Eycken, Nancy Van Damme, Zdravka Valerianova, Mario Sekerija, Vasos Scoutellas, Anna Demetriou, Ladislav Dušek, Denisa Krejci, Hans Storm, Margit Mägi, Keiu Paapsi, Nea Malila, Janne Pitkäniemi, Valerie Jooste, Jacqueline Clavel, Claire Poulalhon, Emmanuel Desandes, Alain Monnereau, Alexander Katalinic, Eleni Petridou, Georgios Markozannes, Miklos Garami, Helgi Birgisson, Paul M Walsh, Guido Mazzoleni, Fabio Vittadello, Francesco Cuccaro, Rocco Galasso, Giuseppe Sampietro, Stefano Rosso, Cinzia Gasparotto, Giovanni Maifredi, Margherita Ferrante, Antonina Torrisi, Antonella Sutera Sardo, Maria Letizia Gambino, Monica Lanzoni, Paola Ballotari, Erica Giacomazzi, Stefano Ferretti, Adele Caldarella, Gianfranco Manneschi, Milena Sant, Paolo Baili, Franco Berrino, Annalisa Trama, Roberto Lillini, Alice Bernasconi, Simone Bonfarnuzzo, Claudia Vener, Fabio Didonè, Paolo Lasalvia, Giulia Del Monego, Lucia Buratti, Diego Serraino, Martina Taborelli, Roberta De Angelis, Elena Demuru, Corrado Di Benedetto, Mariano Santaquilani, Serenella Venanzi, Marco Tallon, Luca Boni, Silvia Iacovacci, Antonio Giampiero Russo, Federico Gervasi, Gianbattista Spagnoli, Luca Cavalieri d'Oro, Mario Fusco, Maria Francesca Vitale, Mario Usala, Francesco Vitale, Maria Michiara, Giorgio Chiranda, Carlotta Sacerdote, Milena Maule, Giuseppe Cascone, Eugenia Spata, Lucia Mangone, Fabio Falcini, Rossella Cavallo, Daniela Piras, Ylenia Dinaro, Marine Castaing, Anna Clara Fanetti, Sante Minerba, Giuseppina Candela, Tiziana Scuderi, Roberto Vito Rizzello, Fabrizio Stracci, Giovanna Tagliabue, Massimo Rugge, Angelita Brustolin, Santa Pildava, Giedre Smailyte, Miriam Azzopardi, Tom Børge Johannesen, Joanna Didkowska, Urszula Wojciechowska, Magdalena Bielska-Lasota, Ana Pais, Ana Maria Ferreira, Maria José Bento, Ana Miranda, Chakameh Safaei Diba, Vesna Zadnik, Tina Zagar, Carmen Sánchez-Contador Escudero, Paula Franch Sureda, Arantza Lopez de Munain, Marta De-La-Cruz, Marìa Dolores Rojas, Araceli Aleman, Ana Vizcaino, Fernando Almela, Arantza Sanvisens, Maria Josè Sanchez, Maria Dolores Chirlaque, Antonia Sanchez-Gil, Marcela Guevara, Eva Ardanaz, Adela Cañete-Nieto, Rafael Peris-Bonet, Jaume Galceran, Maria Carulla, Claudia Kuehni, Shelagh Redmond, Otto Visser, Henrike Karim-Kos, Sarah Stevens, Anna Gavin, David Morrison, Dyfed Wyn Huws
المساهمون: Botta, L, Gatta, G, Capocaccia, R, Stiller, C, Canete, A, Dal Maso, L, Innos, K, Mihor, A, Erdmann, F, Spix, C, Lacour, B, Marcos-Gragera, R, Murray, D, Rossi, S, Hackl, M, Van Eycken, E, Van Damme, N, Valerianova, Z, Sekerija, M, Scoutellas, V, Demetriou, A, Dusek, L, Krejci, D, Storm, H, Magi, M, Paapsi, K, Malila, N, Pitkaniemi, J, Jooste, V, Clavel, J, Poulalhon, C, Desandes, E, Monnereau, A, Katalinic, A, Petridou, E, Markozannes, G, Garami, M, Birgisson, H, Walsh, P, Mazzoleni, G, Vittadello, F, Cuccaro, F, Galasso, R, Sampietro, G, Rosso, S, Gasparotto, C, Maifredi, G, Ferrante, M, Torrisi, A, Sutera Sardo, A, Gambino, M, Lanzoni, M, Ballotari, P, Giacomazzi, E, Ferretti, S, Caldarella, A, Manneschi, G, Sant, M, Baili, P, Berrino, F, Trama, A, Lillini, R, Bernasconi, A, Bonfarnuzzo, S, Vener, C, Didone, F, Lasalvia, P, Del Monego, G, Buratti, L, Serraino, D, Taborelli, M, De Angelis, R, Demuru, E, Di Benedetto, C, Santaquilani, M, Venanzi, S, Tallon, M, Boni, L, Iacovacci, S, Russo, A, Gervasi, F, Spagnoli, G, Cavalieri d'Oro, L, Fusco, M, Vitale, M, Usala, M, Vitale, F, Michiara, M, Chiranda, G, Sacerdote, C, Maule, M, Cascone, G, Spata, E, Mangone, L, Falcini, F, Cavallo, R, Piras, D, Dinaro, Y, Castaing, M, Fanetti, A, Minerba, S, Candela, G, Scuderi, T, Rizzello, R, Stracci, F, Tagliabue, G, Rugge, M, Brustolin, A, Pildava, S, Smailyte, G, Azzopardi, M, Johannesen, T, Didkowska, J, Wojciechowska, U, Bielska-Lasota, M, Pais, A, Ferreira, A, Bento, M, Miranda, A, Safaei Diba, C, Zadnik, V, Zagar, T, Sanchez-Contador Escudero, C, Franch Sureda, P, Lopez de Munain, A, De-La-Cruz, M, Rojas, M, Aleman, A, Vizcaino, A, Almela, F, Sanvisens, A, Sanchez, M, Chirlaque, M, Sanchez-Gil, A, Guevara, M, Ardanaz, E, Canete-Nieto, A, Peris-Bonet, R, Galceran, J, Carulla, M, Kuehni, C, Redmond, S, Visser, O, Karim-Kos, H, Stevens, S, Gavin, A, Morrison, D, Huws, D
مصطلحات موضوعية: Retinal Neoplasms, Retinoblastoma, Bone Neoplasms, Sarcoma, Ewing, EUROCARE-6, survival, Burkitt Lymphoma, population-based cancer registrie, Europe, Oncology, Humans, cure fraction, childhood cancer, EUROCARE, Child, chidlhood cancer
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245e3f87a1ec1a40c1e75590ffb2ed6d
https://hdl.handle.net/11391/1546974 -
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المؤلفون: F. Gigliani, Olivier Destrée, Serenella Venanzi, Piero A. Battaglia
المصدر: Journal of Biomedical Science. 5:211-220
مصطلحات موضوعية: Cytoplasm, Embryo, Nonmammalian, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutant, Xenopus, Down-Regulation, Transfection, Xenopus laevis, Transactivation, Gene expression, Animals, Pharmacology (medical), RNA, Messenger, Molecular Biology, Cell Nucleus, Messenger RNA, biology, Biochemistry (medical), Gene Expression Regulation, Developmental, Cell Biology, General Medicine, Subcellular localization, biology.organism_classification, Molecular biology, Peptide Fragments, Phenotype, Gene Products, tat, Mutation, tat Gene Products, Human Immunodeficiency Virus, Nuclear localization sequence
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المصدر: Journal of Biomedical Science. 5:211-220
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Pharmacology (medical), Cell Biology, General Medicine, Molecular Biology
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المؤلفون: Bruce D. Gelb, Gilda Sabetta, Gianfranco Bocchinfuso, Paola Torreri, Luisa Castagnoli, Simone Martinelli, Silvia Delle Vigne, Gianni Cesareni, Marco Tartaglia, Serenella Venanzi, Aurelio Pio Nardozza, Elisabetta Flex, Antonio Palleschi, Lorenzo Stella
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: Models, Molecular, Protein Structure, SH2 Domains, Phosphatase, Mutant, Molecular Sequence Data, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Phosphorylation, Humans, Amino Acid Sequence, Noonan Syndrome, Molecular Dynamics Simulation, Mutation, src Homology Domains, Protein tyrosine phosphatase, Biology, SH2 domain, Biochemistry, Non-Receptor Type 11, Protein structure, Models, medicine, Molecular Biology, Genetics, Molecular, Molecular Bases of Disease, Cell Biology, medicine.disease, PTPN11, Settore BIO/18 - Genetica, Protein-tyrosine Phosphatase (Tyrosine Phosphatase), Genetic Diseases, Noonan syndrome, SHP2, Protein Tyrosine Phosphatase, Proto-oncogene tyrosine-protein kinase Src, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac641f9aa8a98a65ca57e14014b78e86
http://hdl.handle.net/11573/560602 -
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المؤلفون: Francesca Faravelli, Margherita Silengo, Giovanni Battista Ferrero, Ines Kavamura, Orazio Gabrielli, Marco Tartaglia, Serenella Venanzi, Angelo Selicorni, Franco Stanzial, Lorenzo Stella, Michela Bonaguro, Giuseppe Zampino, Laura Mazzanti, Bruce D. Gelb, Maria Cristina Digilio, Maria Lisa Dentici, Giuseppina Baldassarre, Francesca Romana Lepri, Cesare Rossi, Francesca Pantaleoni, Viviana Cordeddu, Maria Felicia Faienza, Viviana Caputo, Bradley Williams, Alessandro De Luca, Alba Pilotta, Bruno Dallapiccola, Bruno Marino, Giovanni Neri, Isabella Torrrente
المساهمون: Laboratorio Mendel, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Dipartimento di Scienze e Tecnologie Chimiche, Università degli Studi di Roma Tor Vergata [Roma], UO Genetica Medica, Policlinico S.Orsola-Malpighi, Pediatria, Università degli studi di Torino (UNITO), Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanita', GeneDx [Gaithersburg, MD, USA], Ematologia, Oncologia, Medicina Molecolare, Medical Genetics, Federal University of Sao Paulo, Department of Biomedicine of Developmental Age, Università degli studi di Bari Aldo Moro (UNIBA), Auxoendocrinologia, Ospedale Pediatrico, Servizio aziendale di Consulenza Genetica, Ospedale di Bolzano, Department of Human Genetics, Galliera Hospital, Istituto di Scienze Materno-Infantili, Università Politecnica delle Marche [Ancona] (UNIVPM), Policlinico 'Umberto I', Universita' 'La Sapienza', Universita Cattolica del Sacro Cuore, Università cattolica del Sacro Cuore [Milano] (Unicatt), Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Università di Bologna, Policlinico S. Orsola-Malpighi, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Clinica Pediatrica, Pediatrics and Human Genetics, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M., Ist Super Sanita, IRCCS Casa Sollievo Sofferenza, Univ Roma Tor Vergata, St Orsola Marcello Malpighi Hosp, Univ Turin, GeneDx, Universidade Federal de São Paulo (UNIFESP), Univ Bari, Osped Pediat, Osped Bolzano, Ospedali Galliera, Univ Politecn Marche, Univ Roma La Sapienza, Univ Cattolica Sacro Cuore, Univ Milano Bicocca, Univ Bologna, IRCCS, Mt Sinai Sch Med
المصدر: Human Mutation
Human Mutation, Wiley, 2011, 32 (7), pp.760. ⟨10.1002/humu.21492⟩
Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESPمصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, genotype-phenotype correlations, Protein Conformation, SOS1 MUTATIONS, mutation analysis, noonan syndrome, ns, sos1, structural analysis, medicine.disease_cause, Heart Septal Defects, Atrial, INDEL Mutation, Missense mutation, Noonan syndrome, SOS1, Child, Genetics (clinical), Settore CHIM/02 - Chimica Fisica, Genetics, 0303 health sciences, Mutation, 030305 genetics & heredity, NOONAN SYNDOME, Life Sciences, Exons, Phenotype, Major gene, Pulmonary Valve Stenosis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Female, SOS1 Protein, Research Article, Adult, Adolescent, Mutation, Missense, Biology, NS, Atrial septal defects, genotype–phenotype correlations, RAS-MAPK PATHWAY, 03 medical and health sciences, medicine, Humans, Genetic Association Studies, 030304 developmental biology, Mitogen-Activated Protein Kinase Kinases, Genetic heterogeneity, medicine.disease, Introns
وصف الملف: ELETTRONICO
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المؤلفون: Jeroen P. Roose, Josi Peterson, Hans Clevers, Miranda Molenaar, Olivier Destrée, Serenella Venanzi
المصدر: Mechanisms of development. 75(1-2)
مصطلحات موضوعية: Mesoderm, Embryology, animal structures, DNA, Complementary, Embryo, Nonmammalian, Lymphoid Enhancer-Binding Factor 1, Xenopus, Molecular Sequence Data, Transcription Factor 7-Like 1 Protein, Embryonic Development, Xenopus Proteins, Midblastula, Limb bud, Transcription Factor 3, HMGB Proteins, medicine, Animals, Axis specification, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Transcription factor, In Situ Hybridization, Genetics, biology, Sequence Homology, Amino Acid, Wnt signaling pathway, High Mobility Group Proteins, Gene Expression Regulation, Developmental, Sequence Analysis, DNA, biology.organism_classification, Blotting, Northern, Cell biology, medicine.anatomical_structure, embryonic structures, RNA, Otic vesicle, TCF Transcription Factors, Developmental Biology, Transcription Factors
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المؤلفون: Jin-Chuan Sheu, Nobumasa Kato, Jacinta F. White, Rong-Fong Shen, Piero A. Battaglia, Jaap M. Middeldorp, Miyuki Sadamatsu, Ding-Shinn Chen, Laura A. Castelli, Toshifumi Noguchi, Ian Macreadie, Yu-Lun Huang, Jen-Yang Chen, Michael Klutch, Amy M. Woerner, Judith G. Levin, Hsuan-Shu Lee, F. Gigliani, Olivier Destrée, Jehng-Fen Yang, Nagendra S. Ningaraj, Hsin-Hsiung Tai, Ahmed A. Azad, Serenella Venanzi, Mei-Ru Chen, Ross Fernley, A-Mei Huang, Sheng-Chung Lee, Carol J. Marcus-Sekura, Pei-Jer Chen, Anna Lucantoni, Pei Ming Yang, Mamatha K. Rao, Chia-Wei Wu, Ming-Yang Lai, Chen-Kung Chou, Guan-Tarn Huang, Naoto Yamada
المصدر: Journal of Biomedical Science. 5:151-152
مصطلحات موضوعية: History, Optics, business.industry, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Pharmacology (medical), Cell Biology, General Medicine, Reflection (computer graphics), business, Molecular Biology
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8دورية أكاديمية
المؤلفون: Piero A. Battaglia, Donatella Ponti, Valeria Naim, Serenella Venanzi, Rossana Psaila, Franca Gigliani
المصدر: Cell Motility & the Cytoskeleton; Jul2005, Vol. 61 Issue 3, p129-136, 8p
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