Sfoglia per Titolo
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
2000-01-01 Meloni, Ilaria; Bruttini, Mirella; Longo, I; Mari, Francesca; Rizzolio, F; D'Adamo, P; Denvriendt, K; Fryns, Jp; Toniolo, D; Renieri, Alessandra
Mutation of BAX occurs infrequently in acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas
2000-01-01 Gaidano, Gianluca; Vivenza, Daniela; Forconi, Francesco; Capello, Daniela; Gloghini, Annunziata; Bhatia, Kishor; Gutierrez, Marina; Gallicchio, Margherita; Avanzi, Gian Carlo; Fassone, Lucia; Ariatti, Cristiano; Buonaiuto, Daniela; Cingolani, Antonella; Saglio, Giuseppe; Tirelli, Umberto; Larocca, Luigi M.; Dalla-Favera, Riccardo; Carbone, Antonino
Mutation of PFN1 gene in an early onset, polyostotic Paget-like disease
2020-01-01 Merlotti, D.; Materozzi, M.; Bianciardi, S.; Guarnieri, V.; Rendina, D.; Volterrani, L.; Bellan, C.; Mingiano, C.; Picchioni, T.; Frosali, A.; Orfanelli, U.; Cenci, S.; Gennari, L.
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
1999-01-01 Barone, V.; Massa, O.; Intravaia, E.; Bracco, A.; Martino, A. D.; Tegazzin, V.; Cozzolino, S.; Sorrentino, V.
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients
2011-01-01 Micale, L.; Augello, B.; Fusco, C.; Selicorni, A.; Loviglio, M. N.; CIRILLO SILENGO, M.; Reymond, A.; Gumiero, B.; Zucchetti, F.; D'Addetta, E. V.; Belligni, E.; Calcagni, A.; Digilio, M. C.; Dallapiccola, B.; Faravelli, F.; Forzano, F.; Accadia, M.; Bonfante, A.; Clementi, M.; Daolio, C.; Douzgou, S.; Ferrari, P.; Fischetto, R.; Garavelli, L.; Lapi, E.; Mattina, T.; Melis, D.; Patricelli, M. G.; Priolo, M.; Prontera, P.; Renieri, Alessandra; Mencarelli, M. A.; Scarano, G.; DELLA MONICA, M.; Toschi, B.; Turolla, L.; Vancini, A.; Zatterale, A.; Gabrielli, O.; Zelante, L.; Merla, G.
Mutational analysis of the inhibin alpha gene in preeclamptic women
2005-01-01 Ciarmela, P.; Florio, P.; Battistini, S.; Grasso, D.; Amato, T.; Boschi, S.; Marozio, L.; Benedetto, C.; Petraglia, F.
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
2009-01-01 Orrico, A.; Galli, L.; Grosso, S.; Buoni, S.; Pianigiani, R.; Balestri, P.; Sorrentino, V.
Mutational analysis of the two zinc-binding sites of the Bacillus cereus 569/H/9 metallo-beta-lactamase.
2002-01-01 DE SENY, D; PROSPERI MEYS, C; Bebrone, C; Rossolini, GIAN MARIA; Page, Mi; Noel, P; Frere, Jm; Galleni, M.
Mutational analysis of VIM-2 reveals an essential determinant for metallo-beta-lactamase stability and folding
2010-01-01 Borgianni, L.; Vandenameele, J.; Matagne, A.; Bini, Luca; Bonomo, R. A.; Frère, J. M.; Rossolini, G. M.; Docquier, J. D.
Mutational concordance between primary and metastatic melanoma: A next-generation sequencing approach
2019-01-01 Manca, A.; Paliogiannis, P.; Colombino, M.; Casula, M.; Lissia, A.; Botti, G.; Caraco, C.; Ascierto, P. A.; Sini, M. C.; Palomba, G.; Pisano, M.; Dedola, M. F.; Fedeli, M. A.; Montesu, M. A.; Rubino, C.; Satta, R.; Scotto, T.; Sini, G.; Maio, M.; Massi, D.; Anichini, A.; Pfeffer, U.; Doneddu, V.; Cossu, A.; Palmieri, G.; Ghiorzo, P.; Queirolo, P.; Quaglino, P.; Sileni, V. C.; Di Giacomo, A. M.
Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients
2000-01-01 Montera, M.; Resta, N.; Simone, C.; Guanti, G.; Marchese, C.; Civitelli, S.; Mancini, A.; Pozzi, S.; De Salvo, L.; Bruzzone, D.; Donadini, A.; Romio, L.; Mareni, C.
The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma
2019-01-01 Wagener, R.; Seufert, J.; Raimondi, F.; Bens, S.; Kleinheinz, K.; Nagel, I.; Ller, J. A.; Thiele, H.; Hubschmann, D.; Kohler, C. W.; Nurnberg, P.; Au-Yeung, R.; Burkhardt, B.; Horn, H.; Leoncini, L.; Jaffe, E. S.; Ott, G.; Rymkiewicz, G.; Schlesner, M.; Russell, R. B.; Klapper, W.; Siebert, R.
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
2006-01-01 Sampieri, K; Hadjistilianou, Theodora; Mari, Francesca; Speciale, C; Mencarelli, Ma; Cetta, Francesco; Manoukian, S; Peissel, B; Giachino, D; Pasini, B; Acquaviva, A; Caporossi, A; Frezzotti, R; Renieri, Alessandra; Bruttini, M.
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
2002-01-01 Dobsonstones, C; Danek, A; Rampoldi, L; Hardie, Rj; Chalmers, Rm; Wood, Nw; Bohlega, S; Dotti, Maria; Federico, Antonio; Shizuka, M; Tanaka, M; Watanabe, M; Ikeda, Y; Brin, M; Goldfarb, Lg; Karp, Bi; Mohiddin, S; Fananapazir, L; Storch, A; Fryer, Ae; Maddison, P; Sibon, I; Trevisolbittencourt, Pc; Singer, C; Caballero, Ir; Aasly, Jo; Schmierer, K; Dengler, R; Hiersemenzel, Lp; Zeviani, M; Meiner, V; Lossos, A; Johnson, S; Mercado, Fc; Sorrentino, G; Dupre, N; Rouleau, Ga; Volkmann, J; Arpa, J; Lees, A; Geraud, G; Chouinard, S; Nemeth, A; Monaco, Ap
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
2008-01-01 Prattichizzo, C; Macca, M; Novelli, V; Giorgio, G; Barra, A; Franco, B; ORAL FACIAL DIGITAL TYPE I., OFDI COLLABORATIVE GROUP ABDULLA F; Abramowicz, M; Amy, S; Schafer, I; Bankier, A; White, S; Barcina, Mg; Bartoshesky, Le; Jenny, K; Beemer, Fa; Benke, P; Betz, Rc; Bianchini, G; Garavelli, L; Bigoni, S; Bird, L; Chibuk, J; MASSER FRYE, D; Brunetti, N; Scarcella, A; Brunner, Hg; Burn, J; Carmi, R; Castellan, C; Castelluccio, P; Castle, B; Chiong, Ma; Cutiongco, Em; Collins, F; Couchon, E; Curry, A; Pastore, M; Curry, C; Swenerton, A; Treisman, T; Dean, J; Devriendt, K; Matthijs, G; Dunlap, Jw; Shashi, V; Elcioglu, N; Farndon, P; Ferrero, Gb; Ferrier, R; Foulds, N; Friedman, Jm; Gal, A; Orth, U; Gardner, M; Gerola, O; GILLESSEN KAESBACH, G; Giuliano, F; TURC CAREL, C; Gödde, E; Graber, V; Graham, Ge; Gurrieri, F; Harbour, L; Henderson, A; Jones, E; Heran, H; Homfray, T; Taylor, R; Iwarsson, E; Jensen, P; JEZELA STANEK, A; Joss, S; Taylor, G; Keeling, Sl; Klatt, R; Teebi, A; KLEHR MARTINELLI, M; Kotzot, D; Lees, M; Loughlin, S; Lhotta, K; Macdonald, F; Mari, Francesca; Renieri, Alessandra; Marlin, S; Mcgaughran, J; Mckenzie, F; Mcleod, Dr; Megarbane, A; Mota, Cr; Mucke, J; Tzschach, A; Obersztyn, E; Okhowat, R; Shinzel, A; Pfau, R; Pober, B; Raymond, Fl; Reich, E; Reimschisel, T; Robertson, J; Roggenbuck, J; Sabato, A; SANCHEZ DEL POZO, J; SCHELL APACIK, C; Schwaab, E; Selicorni, A; Sell, S; Smithson, S; STRAY PEDERSEN, A; Tan, T; Thiese, H; Tol, J; Toprak, O; Trump, D; Whittaker, J; Williams, D; Zelante, L; Zoll, B.
Mutations and polymorphism of LH and FSH receptors and sperm quality in men with hypergonadotropic hypogonadism without obvious testicular noxa
2012-01-01 DI CAIRANO, Giovanni; Cantara, Silvia; Collodel, Giulia; Moretti, Elena; Taglianetti, Stefano; Mazzi, Lucia; Pacini, Furio
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
2014-01-01 Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, FRANCESCA MARIA; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, MARIA ALESSANDRA; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider Khouja, Neziha; Valente, Enza Maria
Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis
2012-01-01 Belloni, Giorgio; Sechi, Stefano; Riparbelli, MARIA GIOVANNA; Fuller, Margaret T.; Callaini, Giuliano; Giansanti, Maria Grazia
Mutations in FN1 cause glomerulopathy with fibronectin deposits
2008-01-01 Castelletti, F.; Donadelli, R.; Banterla, F.; Hildebrandt, F.; Zipfel, P. F.; Bresin, E.; Otto, E.; Skerka, C.; Renieri, Alessandra; Todeschini, M.; Caprioli, J.; Caruso, R. M.; Artuso, R.; Remuzzi, G.; Noris, M.
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies
2022-01-01 Rossi, D.; Catallo, M. R.; Pierantozzi, E.; Sorrentino, V.
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. | 1-gen-2000 | Meloni, Ilaria; Bruttini, Mirella; Longo, I; Mari, Francesca; Rizzolio, F; D'Adamo, P; Denvriendt, K; Fryns, Jp; Toniolo, D; Renieri, Alessandra | - | |
| Mutation of BAX occurs infrequently in acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas | 1-gen-2000 | Gaidano, Gianluca; Vivenza, Daniela; Forconi, Francesco; Capello, Daniela; Gloghini, Annunziata; Bhatia, Kishor; Gutierrez, Marina; Gallicchio, Margherita; Avanzi, Gian Carlo; Fassone, Lucia; Ariatti, Cristiano; Buonaiuto, Daniela; Cingolani, Antonella; Saglio, Giuseppe; Tirelli, Umberto; Larocca, Luigi M.; Dalla-Favera, Riccardo; Carbone, Antonino | - | |
| Mutation of PFN1 gene in an early onset, polyostotic Paget-like disease | 1-gen-2020 | Merlotti, D.; Materozzi, M.; Bianciardi, S.; Guarnieri, V.; Rendina, D.; Volterrani, L.; Bellan, C.; Mingiano, C.; Picchioni, T.; Frosali, A.; Orfanelli, U.; Cenci, S.; Gennari, L. | - | |
| Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families | 1-gen-1999 | Barone, V.; Massa, O.; Intravaia, E.; Bracco, A.; Martino, A. D.; Tegazzin, V.; Cozzolino, S.; Sorrentino, V. | - | |
| Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients | 1-gen-2011 | Micale, L.; Augello, B.; Fusco, C.; Selicorni, A.; Loviglio, M. N.; CIRILLO SILENGO, M.; Reymond, A.; Gumiero, B.; Zucchetti, F.; D'Addetta, E. V.; Belligni, E.; Calcagni, A.; Digilio, M. C.; Dallapiccola, B.; Faravelli, F.; Forzano, F.; Accadia, M.; Bonfante, A.; Clementi, M.; Daolio, C.; Douzgou, S.; Ferrari, P.; Fischetto, R.; Garavelli, L.; Lapi, E.; Mattina, T.; Melis, D.; Patricelli, M. G.; Priolo, M.; Prontera, P.; Renieri, Alessandra; Mencarelli, M. A.; Scarano, G.; DELLA MONICA, M.; Toschi, B.; Turolla, L.; Vancini, A.; Zatterale, A.; Gabrielli, O.; Zelante, L.; Merla, G. | - | |
| Mutational analysis of the inhibin alpha gene in preeclamptic women | 1-gen-2005 | Ciarmela, P.; Florio, P.; Battistini, S.; Grasso, D.; Amato, T.; Boschi, S.; Marozio, L.; Benedetto, C.; Petraglia, F. | - | |
| Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies | 1-gen-2009 | Orrico, A.; Galli, L.; Grosso, S.; Buoni, S.; Pianigiani, R.; Balestri, P.; Sorrentino, V. | - | |
| Mutational analysis of the two zinc-binding sites of the Bacillus cereus 569/H/9 metallo-beta-lactamase. | 1-gen-2002 | DE SENY, D; PROSPERI MEYS, C; Bebrone, C; Rossolini, GIAN MARIA; Page, Mi; Noel, P; Frere, Jm; Galleni, M. | - | |
| Mutational analysis of VIM-2 reveals an essential determinant for metallo-beta-lactamase stability and folding | 1-gen-2010 | Borgianni, L.; Vandenameele, J.; Matagne, A.; Bini, Luca; Bonomo, R. A.; Frère, J. M.; Rossolini, G. M.; Docquier, J. D. | - | |
| Mutational concordance between primary and metastatic melanoma: A next-generation sequencing approach | 1-gen-2019 | Manca, A.; Paliogiannis, P.; Colombino, M.; Casula, M.; Lissia, A.; Botti, G.; Caraco, C.; Ascierto, P. A.; Sini, M. C.; Palomba, G.; Pisano, M.; Dedola, M. F.; Fedeli, M. A.; Montesu, M. A.; Rubino, C.; Satta, R.; Scotto, T.; Sini, G.; Maio, M.; Massi, D.; Anichini, A.; Pfeffer, U.; Doneddu, V.; Cossu, A.; Palmieri, G.; Ghiorzo, P.; Queirolo, P.; Quaglino, P.; Sileni, V. C.; Di Giacomo, A. M. | - | |
| Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients | 1-gen-2000 | Montera, M.; Resta, N.; Simone, C.; Guanti, G.; Marchese, C.; Civitelli, S.; Mancini, A.; Pozzi, S.; De Salvo, L.; Bruzzone, D.; Donadini, A.; Romio, L.; Mareni, C. | - | |
| The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma | 1-gen-2019 | Wagener, R.; Seufert, J.; Raimondi, F.; Bens, S.; Kleinheinz, K.; Nagel, I.; Ller, J. A.; Thiele, H.; Hubschmann, D.; Kohler, C. W.; Nurnberg, P.; Au-Yeung, R.; Burkhardt, B.; Horn, H.; Leoncini, L.; Jaffe, E. S.; Ott, G.; Rymkiewicz, G.; Schlesner, M.; Russell, R. B.; Klapper, W.; Siebert, R. | - | |
| Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. | 1-gen-2006 | Sampieri, K; Hadjistilianou, Theodora; Mari, Francesca; Speciale, C; Mencarelli, Ma; Cetta, Francesco; Manoukian, S; Peissel, B; Giachino, D; Pasini, B; Acquaviva, A; Caporossi, A; Frezzotti, R; Renieri, Alessandra; Bruttini, M. | - | |
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis | 1-gen-2002 | Dobsonstones, C; Danek, A; Rampoldi, L; Hardie, Rj; Chalmers, Rm; Wood, Nw; Bohlega, S; Dotti, Maria; Federico, Antonio; Shizuka, M; Tanaka, M; Watanabe, M; Ikeda, Y; Brin, M; Goldfarb, Lg; Karp, Bi; Mohiddin, S; Fananapazir, L; Storch, A; Fryer, Ae; Maddison, P; Sibon, I; Trevisolbittencourt, Pc; Singer, C; Caballero, Ir; Aasly, Jo; Schmierer, K; Dengler, R; Hiersemenzel, Lp; Zeviani, M; Meiner, V; Lossos, A; Johnson, S; Mercado, Fc; Sorrentino, G; Dupre, N; Rouleau, Ga; Volkmann, J; Arpa, J; Lees, A; Geraud, G; Chouinard, S; Nemeth, A; Monaco, Ap | - | |
| Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. | 1-gen-2008 | Prattichizzo, C; Macca, M; Novelli, V; Giorgio, G; Barra, A; Franco, B; ORAL FACIAL DIGITAL TYPE I., OFDI COLLABORATIVE GROUP ABDULLA F; Abramowicz, M; Amy, S; Schafer, I; Bankier, A; White, S; Barcina, Mg; Bartoshesky, Le; Jenny, K; Beemer, Fa; Benke, P; Betz, Rc; Bianchini, G; Garavelli, L; Bigoni, S; Bird, L; Chibuk, J; MASSER FRYE, D; Brunetti, N; Scarcella, A; Brunner, Hg; Burn, J; Carmi, R; Castellan, C; Castelluccio, P; Castle, B; Chiong, Ma; Cutiongco, Em; Collins, F; Couchon, E; Curry, A; Pastore, M; Curry, C; Swenerton, A; Treisman, T; Dean, J; Devriendt, K; Matthijs, G; Dunlap, Jw; Shashi, V; Elcioglu, N; Farndon, P; Ferrero, Gb; Ferrier, R; Foulds, N; Friedman, Jm; Gal, A; Orth, U; Gardner, M; Gerola, O; GILLESSEN KAESBACH, G; Giuliano, F; TURC CAREL, C; Gödde, E; Graber, V; Graham, Ge; Gurrieri, F; Harbour, L; Henderson, A; Jones, E; Heran, H; Homfray, T; Taylor, R; Iwarsson, E; Jensen, P; JEZELA STANEK, A; Joss, S; Taylor, G; Keeling, Sl; Klatt, R; Teebi, A; KLEHR MARTINELLI, M; Kotzot, D; Lees, M; Loughlin, S; Lhotta, K; Macdonald, F; Mari, Francesca; Renieri, Alessandra; Marlin, S; Mcgaughran, J; Mckenzie, F; Mcleod, Dr; Megarbane, A; Mota, Cr; Mucke, J; Tzschach, A; Obersztyn, E; Okhowat, R; Shinzel, A; Pfau, R; Pober, B; Raymond, Fl; Reich, E; Reimschisel, T; Robertson, J; Roggenbuck, J; Sabato, A; SANCHEZ DEL POZO, J; SCHELL APACIK, C; Schwaab, E; Selicorni, A; Sell, S; Smithson, S; STRAY PEDERSEN, A; Tan, T; Thiese, H; Tol, J; Toprak, O; Trump, D; Whittaker, J; Williams, D; Zelante, L; Zoll, B. | - | |
| Mutations and polymorphism of LH and FSH receptors and sperm quality in men with hypergonadotropic hypogonadism without obvious testicular noxa | 1-gen-2012 | DI CAIRANO, Giovanni; Cantara, Silvia; Collodel, Giulia; Moretti, Elena; Taglianetti, Stefano; Mazzi, Lucia; Pacini, Furio | - | |
| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome | 1-gen-2014 | Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, FRANCESCA MARIA; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, MARIA ALESSANDRA; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider Khouja, Neziha; Valente, Enza Maria | - | |
| Mutations in Cog7 affect Golgi structure, meiotic cytokinesis and sperm development during Drosophila spermatogenesis | 1-gen-2012 | Belloni, Giorgio; Sechi, Stefano; Riparbelli, MARIA GIOVANNA; Fuller, Margaret T.; Callaini, Giuliano; Giansanti, Maria Grazia | - | |
| Mutations in FN1 cause glomerulopathy with fibronectin deposits | 1-gen-2008 | Castelletti, F.; Donadelli, R.; Banterla, F.; Hildebrandt, F.; Zipfel, P. F.; Bresin, E.; Otto, E.; Skerka, C.; Renieri, Alessandra; Todeschini, M.; Caprioli, J.; Caruso, R. M.; Artuso, R.; Remuzzi, G.; Noris, M. | - | |
| Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies | 1-gen-2022 | Rossi, D.; Catallo, M. R.; Pierantozzi, E.; Sorrentino, V. | - |
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