Sfoglia per Afferenza Dipartimento di Medicina clinica, sanità pubblica, scienze della vita e dell'ambiente
Musculoskeletal Interventional Radiology in the Pediatric Population: State of the Art
2021-01-01 Arrigoni, Francesco; Izzo, Antonio; Bruno, Federico; Palumbo, Pierpaolo; De Filippo, Massimo; Zugaro, Luigi; Masciocchi, Carlo; Barile, Antonio
Music-based techniques and related devices in neurorehabilitation: a scoping review
2021-01-01 Tramontano, M.; De Angelis, S.; Mastrogiacomo, S.; Princi, A. A.; Ciancarelli, I.; Frizziero, A.; Iosa, M.; Paolucci, S.; Morone, G.
Mutagenesis and screening for cellulase (endo-1,4-b-D-glucanase) deficient strains of the white-rot basidiomycete Trametes trogii Berk
2003-01-01 Cacchio, Paola; Fantauzzi, E.; Lepidi, A. A.
Mutagenesis of endopolygalacturonase from Fusarium moniliforme: histidine residue 234 is critical for enzymatic and macerating activities and not for binding to polygalacturonase-inhibiting protein (PGIP)
1996-01-01 Caprari, C.; Mattei, B.; Basile, M. L.; Salvi, G.; Crescenzi, V.; DE LORENZO, G.; Cervone, F.
Mutagenesis studies to improve the polygalacturonase inhibiting protein (PGIP)
2008-01-01 Benedetti, M.; Mariotti, L.; Spinelli, F.; DE LORENZO, G.; Caprari, C.; Cervone, F.
Mutagenesis studies to improve the polygalacturonase inhibiting protein (PGIP)
2009-01-01 Benedetti, M; E., Bastianelli; G., DE LORENZO; C., Caprari; F., Cervone
Mutagenicity test for unstable compounds, such as 5,6-dihydroxyindole, using an Escherichia coli HB101/pBR322 transfection system
1990-01-01 Miranda, M; Amicarelli, Fernanda; Bonfigli, Antonella; Poma, Anna Maria Giuseppina; Zarivi, O; Arcadi, Antonio
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience
2020-01-01 Mannucci, Liliana; Luciano, Serena; Salehi, Leila B; Gigante, Laura; Conte, Chiara; Longo, Giuliana; Ferradini, Valentina; Piumelli, Nunzia; Brancati, Francesco; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica
Mutation screening of the DYT6/THAP1 gene in Italy.
2009-01-01 Bonetti, M; Barzaghi, C; Brancati, F; Ferraris, A; Bellacchio, E; Giovanetti, A; Ialongo, T; Zorzi, G; Piano, C; Petracca, M; Albanese, A; Nardocci, N; Dallapiccola, B; Bentivoglio, Ar; Garavaglia, B; Valente, Em
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
2019-01-01 Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldarini, Camilla; Brancati, Francesco; De Luca, Alessandro; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
2011-01-01 Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M.
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
2014-01-01 Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
2008-01-01 Zuccarello, D; Ferlin, A; Cazzadore, C; Pepe, A; Garolla, A; Cordeschi, G; Francavilla, Sandro; Foresta, C.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
2009-01-01 Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
2010-01-01 Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B
Mutations in PYCR1 cause cutis laxa with progeroid features.
2009-01-01 Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome.
2006-01-01 Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
2008-01-01 V, Cantagrel; Jl, Silhavy; Sl, Bielas; D, Swistun; Se, Marsh; Jy, Bertrand; S, Audollent; T, ATTIÉ-BITACH; Kr, Holden; Wb, Dobyns; D, Traver; L, AL-GAZALI; Br, Ali; Th, Lindner; T, Caspary; Ea, Otto; F, Hildebrandt; Ia, Glass; Cv, Logan; Ca, Johnson; C, Bennett; Brancati, F.; Em, Valente; Cg, Woods; Jg, Gleeson
Mutations in the GLA gene and LysoGb3: Is it really Anderson-Fabry disease?
2018-01-01 Duro, G.; Zizzo, C.; Cammarata, G.; Burlina, A.; Burlina, A.; Polo, G.; Scalia, S.; Oliveri, R.; Sciarrino, S.; Francofonte, D.; Alessandro, R.; Pisani, A.; Palladino, G.; Napoletano, R.; Tenuta, M.; Masarone, D.; Limongelli, G.; Riccio, E.; Frustaci, A.; Chimenti, C.; Ferri, C.; Pieruzzi, F.; Pieroni, M.; Spada, M.; Castana, C.; Caserta, M.; Monte, I.; Rodolico, M. S.; Feriozzi, S.; Battaglia, Y.; Amico, L.; Losi, M. A.; Autore, C.; Lombardi, M.; Zoccali, C.; Testa, A.; Postorino, M.; Mignani, R.; Zachara, E.; Giordano, A.; Colomba, P.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
2015-01-01 Murray Jennie, E; Van Der Burg, Mirjam; Ijspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller Edward, S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih Eissa, A.; Graham Gail, E.; Ranza, Emmanuelle; Blundell Tom, L.; Jackson Andrew, P.; Stewart Grant, S.; Bicknell Louise, S.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Musculoskeletal Interventional Radiology in the Pediatric Population: State of the Art | 1-gen-2021 | Arrigoni, Francesco; Izzo, Antonio; Bruno, Federico; Palumbo, Pierpaolo; De Filippo, Massimo; Zugaro, Luigi; Masciocchi, Carlo; Barile, Antonio | |
| Music-based techniques and related devices in neurorehabilitation: a scoping review | 1-gen-2021 | Tramontano, M.; De Angelis, S.; Mastrogiacomo, S.; Princi, A. A.; Ciancarelli, I.; Frizziero, A.; Iosa, M.; Paolucci, S.; Morone, G. | |
| Mutagenesis and screening for cellulase (endo-1,4-b-D-glucanase) deficient strains of the white-rot basidiomycete Trametes trogii Berk | 1-gen-2003 | Cacchio, Paola; Fantauzzi, E.; Lepidi, A. A. | |
| Mutagenesis of endopolygalacturonase from Fusarium moniliforme: histidine residue 234 is critical for enzymatic and macerating activities and not for binding to polygalacturonase-inhibiting protein (PGIP) | 1-gen-1996 | Caprari, C.; Mattei, B.; Basile, M. L.; Salvi, G.; Crescenzi, V.; DE LORENZO, G.; Cervone, F. | |
| Mutagenesis studies to improve the polygalacturonase inhibiting protein (PGIP) | 1-gen-2008 | Benedetti, M.; Mariotti, L.; Spinelli, F.; DE LORENZO, G.; Caprari, C.; Cervone, F. | |
| Mutagenesis studies to improve the polygalacturonase inhibiting protein (PGIP) | 1-gen-2009 | Benedetti, M; E., Bastianelli; G., DE LORENZO; C., Caprari; F., Cervone | |
| Mutagenicity test for unstable compounds, such as 5,6-dihydroxyindole, using an Escherichia coli HB101/pBR322 transfection system | 1-gen-1990 | Miranda, M; Amicarelli, Fernanda; Bonfigli, Antonella; Poma, Anna Maria Giuseppina; Zarivi, O; Arcadi, Antonio | |
| Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience | 1-gen-2020 | Mannucci, Liliana; Luciano, Serena; Salehi, Leila B; Gigante, Laura; Conte, Chiara; Longo, Giuliana; Ferradini, Valentina; Piumelli, Nunzia; Brancati, Francesco; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica | |
| Mutation screening of the DYT6/THAP1 gene in Italy. | 1-gen-2009 | Bonetti, M; Barzaghi, C; Brancati, F; Ferraris, A; Bellacchio, E; Giovanetti, A; Ialongo, T; Zorzi, G; Piano, C; Petracca, M; Albanese, A; Nardocci, N; Dallapiccola, B; Bentivoglio, Ar; Garavaglia, B; Valente, Em | |
| Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants | 1-gen-2019 | Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldarini, Camilla; Brancati, Francesco; De Luca, Alessandro; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco | |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. | 1-gen-2011 | Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M. | |
| Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome | 1-gen-2014 | Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter | |
| Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia | 1-gen-2008 | Zuccarello, D; Ferlin, A; Cazzadore, C; Pepe, A; Garolla, A; Cordeschi, G; Francavilla, Sandro; Foresta, C. | |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 1-gen-2009 | Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg | |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. | 1-gen-2010 | Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B | |
| Mutations in PYCR1 cause cutis laxa with progeroid features. | 1-gen-2009 | Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U | |
| Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. | 1-gen-2006 | Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg | |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | 1-gen-2008 | V, Cantagrel; Jl, Silhavy; Sl, Bielas; D, Swistun; Se, Marsh; Jy, Bertrand; S, Audollent; T, ATTIÉ-BITACH; Kr, Holden; Wb, Dobyns; D, Traver; L, AL-GAZALI; Br, Ali; Th, Lindner; T, Caspary; Ea, Otto; F, Hildebrandt; Ia, Glass; Cv, Logan; Ca, Johnson; C, Bennett; Brancati, F.; Em, Valente; Cg, Woods; Jg, Gleeson | |
| Mutations in the GLA gene and LysoGb3: Is it really Anderson-Fabry disease? | 1-gen-2018 | Duro, G.; Zizzo, C.; Cammarata, G.; Burlina, A.; Burlina, A.; Polo, G.; Scalia, S.; Oliveri, R.; Sciarrino, S.; Francofonte, D.; Alessandro, R.; Pisani, A.; Palladino, G.; Napoletano, R.; Tenuta, M.; Masarone, D.; Limongelli, G.; Riccio, E.; Frustaci, A.; Chimenti, C.; Ferri, C.; Pieruzzi, F.; Pieroni, M.; Spada, M.; Castana, C.; Caserta, M.; Monte, I.; Rodolico, M. S.; Feriozzi, S.; Battaglia, Y.; Amico, L.; Losi, M. A.; Autore, C.; Lombardi, M.; Zoccali, C.; Testa, A.; Postorino, M.; Mignani, R.; Zachara, E.; Giordano, A.; Colomba, P. | |
| Mutations in the NHEJ component XRCC4 cause primordial dwarfism | 1-gen-2015 | Murray Jennie, E; Van Der Burg, Mirjam; Ijspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller Edward, S.; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih Eissa, A.; Graham Gail, E.; Ranza, Emmanuelle; Blundell Tom, L.; Jackson Andrew, P.; Stewart Grant, S.; Bicknell Louise, S. |
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