IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 271
Titolo Tipologia Data di pubblicazione Autore(i) File
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 1.1 Articolo in rivista 2022 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis 1.1 Articolo in rivista 2022 Soria, Leandro R; Makris, Georgios; D'Alessio, Alfonso M; De Angelis, Angela; Boffa, Iolanda; Pravata, Veronica M; Rüfenacht, Véronique; Attanasio, Sergio; Nusco, Edoardo; Arena, Paola; Ferenbach, Andrew T; Paris, Debora; Cuomo, Paola; Motta, Andrea; Nitzahn, Matthew; Lipshutz, Gerald S; Martínez-Pizarro, Ainhoa; Richard, Eva; Desviat, Lourdes R; Häberle, Johannes; van Aalten, Daan M F; Brunetti-Pierri, Nicola
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature 1.1 Articolo in rivista 2022 Troisi, S.; Maitz, S.; Severino, M.; Spano, A.; Cappuccio, G.; Brunetti-Pierri, N.; Torella, A.; Nigro, V.; Tudp, ; Bilo, L.; Coppola, A.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 1.1 Articolo in rivista 2022 Jia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; Mcmillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G; Morrow, Michelle M; Eichler, Evan E; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, Hui
Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity 1.1 Articolo in rivista 2022 Kaserman, Joseph E; Werder, Rhiannon B; Wang, Feiya; Matte, Taylor; Higgins, Michelle I; Dodge, Mark; Lindstrom-Vautrin, Jonathan; Bawa, Pushpinder; Hinds, Anne; Bullitt, Esther; Caballero, Ignacio S; Shi, Xu; Gerszten, Robert E; Brunetti-Pierri, Nicola; Liesa, Marc; Villacorta-Martin, Carlos; Hollenberg, Anthony N; Kotton, Darrell N; Wilson, Andrew A
Ex Vivo and In Vivo Gene Therapy for Mucopolysaccharidoses: State of the Art 1.2 Recensione in rivista 2022 Consiglieri, Giulia; Bernardo, Maria Ester; Brunetti-Pierri, Nicola; Aiuti, Alessandro
Natural history of KBG syndrome in a large European cohort 1.1 Articolo in rivista 2022 Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria
Liver gene therapy: The magic bullet for the sick lung 1.1 Articolo in rivista 2022 Brunetti-Pierri, Nicola
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant 1.1 Articolo in rivista 2022 DE BERNARDI, MARGHERITA LUCIA; DI STAZIO, Agnese; Romano, Alfonso; Minardi, Raffaella; Bisulli, Francesca; Licchetta, Laura; Aiello, Salvatore; Carelli, Valerio; BRUNETTI PIERRI, Nicola; Cappuccio, Gerarda; Terrone, Gaetano
Epigenetic Alterations in Inborn Errors of Immunity 1.1 Articolo in rivista 2022 Romano, R.; Cillo, F.; Moracas, C.; Pignata, L.; Nannola, C.; Toriello, E.; De Rosa, A.; Cirillo, E.; Coppola, E.; Giardino, G.; Brunetti-pierri, N.; Riccio, A.; Pignata, C.
A retrograde approach for liver gene transfer 1.1 Articolo in rivista 2022 Brunetti-Pierri, Nicola; Gissen, Paul
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder 1.1 Articolo in rivista 2022 Cappuccio, Gerarda; De Bernardi, Margherita Lucia; Morlando, Alessia; Peduto, Cristina; Scala, Iris; Pinelli, Michele; Bellacchio, Emanuele; Gallo, Flavio Gioele; Magli, Adriano; Plaitano, Carmen; Serrano, Mercedes; Pías, Leticia; Català, Jaume; Bolasell, Mercè; Torella, Annalaura; Nigro, Vincenzo; Zanni, Ginevra; Brunetti-Pierri, Nicola
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI 1.1 Articolo in rivista 2022 BRUNETTI PIERRI, Nicola; 1 2, M. D.; Ferla, Rita; h. D. 1., P; 2, ; Ginocchio, virginia maria; D., M.; h. D. 1., P; 2, ; Rossi, Alessandro; D., M.; h. D. 2., P; Fecarotta, Simona; D., M.; h. D. 3., P; Romano, Roberta; D. 2., M.; Parenti, Giancarlo; 1 2, M. D.; Yildiz, Yilmaz; D., M.; h. D. 4., P; Zancan, Stefano; Sc. 5., M.; Pecorella, Valentina; Sc. 1., M.; Dell’Anno, Margherita; Sc. 1., M.; 2, ; Graziano, Mafalda; Sc. 1., M.; Alliegro, Marialuisa; Sc. 1., M.; Andria, Generoso; D. 2., M.; Santamaria, Francesca; D. 2., M.; Brunetti-Pierri, Raffaella; D., M.; h. D. 6., P; Simonelli, Francesca; D. 6., M.; Nigro, Vincenzo; 1 7, M. D.; Vargas, Maria; D. 8., M.; Servillo, Giuseppe; D. 8., M.; Borgia, Francesco; D. 9., M.; Soscia, Ernesto; 10, M. D.; Gargaro, Marco; 11, Ph. D.; Funghini, Silvia; 12, Ph. D.; Tedesco, Novella; 13, M. Sc.; 14, ; Romain Le Brun, Pierre; 13, M. Sc.; 14, ; Rupar, Charles A.; h. D., P; 15, F. C. C. M. G.; Prasad, Chitra; D. F. R. C. P., M.; 15, F. C. C. M. G.; O’Callaghan, Mar; D., M.; 16, Ph. D.; Mitchell, John J.; D., M.; 17, F. R. C. P.; 18, ; Danos, Olivier; 19, Ph. D.; Marteau, Jean-Brice; 20, Ph. D.; Galimberti, Stefania; 21, Ph. D.; Grazia Valsecchi, Maria; 21, Ph. D.; Veron, Philippe; 13, Ph. D.; 14, ; Mingozzi, Federico; 13, Ph. D.; Fallarino, Francesca; 11, Ph. D.; la Marca, Giancarlo; 12, Pharm. Sc.; 22, ; Serap Sivri, H.; D. 4., M.; Alberto Auricchio, And; D. 1., M.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 1.1 Articolo in rivista 2022 Levy, Michael A; Mcconkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S; Cherik, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Kerrnohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 1.2 Recensione in rivista 2022 Taylor, James; Spiller, Michael; Ranguin, Kara; Vitobello, Antonio; Philippe, Christophe; Bruel, Ange-Line; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Willems, Marjolaine; Isidor, Bertrand; Park, Kristen; Balasubramanian, Meena
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome 1.1 Articolo in rivista 2022 Dohrn, Maike F; Rebelo, Adriana P; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J; Züchner, Stephan
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency 1.1 Articolo in rivista 2022 Sorrentino, Nicolina Cristina; Presa, Maximiliano; Attanasio, Sergio; Cacace, Vincenzo; Sofia, Martina; Zuberi, Aamir; Ryan, Jennifer; Ray, Somdatta; Petkovic, Igor; Radhakrishnan, Karthikeyan; Schlotawa, Lars; Ballabio, Andrea; Lutz, Cathleen; Brunetti-Pierri, Nicola
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 1.1 Articolo in rivista 2022 Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim
Are SHROOM4 loss-of-function variants pathogenic? 1.1 Articolo in rivista 2022 Peduto, Cristina; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola
Cholangiopathies and the noncoding revolution 1.2 Recensione in rivista 2022 Gradilone, Sergio; Brunetti-Pierri, Nicola; Piccolo, Pasquale
Mostrati risultati da 21 a 40 di 271
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile