Rezultaty - Flex, Elisabetta

Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor α Homodimers od Hornakova, Tekla, Staerk, Judith, Royer, Yohan, Flex, Elisabetta, Tartaglia, Marco, Constantinescu, Stefan N., Knoops, Laurent, Renauld, Jean-Christophe

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome od Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status od Leoni, Chiara, Romeo, Domenico Marco, Pelliccioni, Michele, Di Già, Mariangela, Onesimo, Roberta, Giorgio, Valentina, Flex, Elisabetta, Tedesco, Marta, Tartaglia, Marco, Rigante, Donato, Valassina, Antonio, Zampino, Giuseppe

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

DNMT3A and DNMT3B Targeting as an Effective Radiosensitizing Strategy in Embryonal Rhabdomyosarcoma od Camero, Simona, Vitali, Giulia, Pontecorvi, Paola, Ceccarelli, Simona, Anastasiadou, Eleni, Cicchetti, Francesca, Flex, Elisabetta, Pomella, Silvia, Cassandri, Matteo, Rota, Rossella, Marampon, Francesco, Marchese, Cinzia, Schiavetti, Amalia, Megiorni, Francesca

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes od Martinelli, Simone, Torreri, Paola, Tinti, Michele, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Grottesi, Alessandro, Ceccarini, Marina, Palleschi, Antonio, Cesareni, Gianni, Castagnoli, Luisa, Petrucci, Tamara C., Gelb, Bruce D., Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in N... od Martinelli, Simone, Nardozza, Aurelio P., Delle Vigne, Silvia, Sabetta, Gilda, Torreri, Paola, Bocchinfuso, Gianfranco, Flex, Elisabetta, Venanzi, Serenella, Palleschi, Antonio, Gelb, Bruce D., Cesareni, Gianni, Stella, Lorenzo, Castagnoli, Luisa, Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3 od Flex, Elisabetta, Imperatore, Valentina, Carpentieri, Giovanna, Bruselles, Alessandro, Ciolfi, Andrea, Pizzi, Simone, Tedesco, Maria Giovanna, Rogaia, Daniela, Mencarelli, Amedea, Di Cara, Giuseppe, Verrotti, Alberto, Troiani, Stefania, Merla, Giuseppe, Tartaglia, Marco, Prontera, Paolo

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease od Tartaglia, Marco, Martinelli, Simone, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Cordeddu, Viviana, Zampino, Giuseppe, Burgt, Ineke van der, Palleschi, Antonio, Petrucci, Tamara C., Sorcini, Mariella, Schoch, Claudia, Foà, Robin, Emanuel, Peter D., Gelb, Bruce D.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair od Ferrero, Giovanni Battista, Picco, Gabriele, Baldassarre, Giuseppina, Flex, Elisabetta, Isella, Claudio, Cantarella, Daniela, Corá, Davide, Chiesa, Nicoletta, Crescenzio, Nicoletta, Timeus, Fabio, Merla, Giuseppe, Mazzanti, Laura, Zampino, Giuseppe, Rossi, Cesare, Silengo, Margherita, Tartaglia, Marco, Medico, Enzo

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature od Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases od Grassi, Ludovica, Alfonsi, Romina, Francescangeli, Federica, Signore, Michele, De Angelis, Maria Laura, Addario, Antonio, Costantini, Manuela, Flex, Elisabetta, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Pallocca, Matteo, Simone, Giuseppe, Haoui, Mustapha, Falchi, Mario, Milella, Michele, Sentinelli, Steno, Di Matteo, Paola, Stellacci, Emilia, Gallucci, Michele, Muto, Giovanni, Tartaglia, Marco, De Maria, Ruggero, Bonci, Désirée

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy od Sferra, Antonella, Baillat, Gilbert, Rizza, Teresa, Barresi, Sabina, Flex, Elisabetta, Tasca, Giorgio, D’Amico, Adele, Bellacchio, Emanuele, Ciolfi, Andrea, Caputo, Viviana, Cecchetti, Serena, Torella, Annalaura, Zanni, Ginevra, Diodato, Daria, Piermarini, Emanuela, Niceta, Marcello, Coppola, Antonietta, Tedeschi, Enrico, Martinelli, Diego, Dionisi-Vici, Carlo, Nigro, Vincenzo, Dallapiccola, Bruno, Compagnucci, Claudia, Tartaglia, Marco, Haase, Georg, Bertini, Enrico

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia od Flex, Elisabetta, Petrangeli, Valentina, Stella, Lorenzo, Chiaretti, Sabina, Hornakova, Tekla, Knoops, Laurent, Ariola, Cristina, Fodale, Valentina, Clappier, Emmanuelle, Paoloni, Francesca, Martinelli, Simone, Fragale, Alessandra, Sanchez, Massimo, Tavolaro, Simona, Messina, Monica, Cazzaniga, Giovanni, Camera, Andrea, Pizzolo, Giovanni, Tornesello, Assunta, Vignetti, Marco, Battistini, Angela, Cavé, Hélène, Gelb, Bruce D., Renauld, Jean-Christophe, Biondi, Andrea, Constantinescu, Stefan N., Foà, Robin, Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions od Bobone, Sara, Pannone, Luca, Biondi, Barbara, Solman, Maja, Flex, Elisabetta, Canale, Viviana Claudia, Calligari, Paolo, De Faveri, Chiara, Gandini, Tommaso, Quercioli, Andrea, Torini, Giuseppe, Venditti, Martina, Lauri, Antonella, Fasano, Giulia, Hoeksma, Jelmer, Santucci, Valerio, Cattani, Giada, Bocedi, Alessio, Carpentieri, Giovanna, Tirelli, Valentina, Sanchez, Massimo, Peggion, Cristina, Formaggio, Fernando, den Hertog, Jeroen, Martinelli, Simone, Bocchinfuso, Gianfranco, Tartaglia, Marco, Stella, Lorenzo

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia od Jungtrakoon Thamtarana, Prapaporn, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone, Marchetti, Piero, Mazza, Tommaso, Froguel, Philippe, Trischitta, Vincenzo, Doria, Alessandro, Prudente, Sabrina

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Genotype and phenotype spectrum of NRAS germline variants od Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

RAF1 mutations in childhood-onset dilated cardiomyopathy od Dhandapany, Perundurai S., Razzaque, Md. Abdur, Muthusami, Uthiralingam, Kunnoth, Sreejith, Edwards, Jonathan J., Mulero-Navarro, Sonia, Riess, Ilan, Pardo, Sherly, Sheng, Jipo, Rani, Deepa Selvi, Rani, Bindhu, Govindaraj, Periyasamy, Flex, Elisabetta, Yokota, Tomohiro, Furutani, Michiko, Nishizawa, Tsutomu, Nakanishi, Toshio, Robbins, Jeffrey, Limongelli, Giuseppe, Hajjar, Roger J., Lebeche, Djamel, Bahl, Ajay, Khullar, Madhu, Rathinavel, Andiappan, Sadler, Kirsten C., Tartaglia, Marco, Matsuoka, Rumiko, Thangaraj, Kumarasamy, Gelb, Bruce D.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment od Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair od Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A., Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C., Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B., Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D., Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration od Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M., Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R., Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe