Sfoglia per Autore
Genetic causes of isolated and combined pituitary hormone deficiency
2016-01-01 Giordano, Mara
Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies
2015-01-01 Musetti, Claudio; Quaglia, Marco; Stratta, Piero; Giordano, Mara
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort
2015-01-01 DE RIENZO, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano Richardi, Patricia; Bona, Gianni; Giordano, Mara
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency
2015-01-01 Giordano, Mara; Gertosio, C; Pagani, S; Meazza, C; Fusco, Ileana; Bozzola, E; Bozzola, M.
NOVEL MUTATIONS IN THE GROWTH HORMONE GENE (GH1) UNCOVER PUTATIVE SPLICING REGULATORY ELEMENTS
2014-01-01 Babu, D; Mellone, S; Fusco, I; Petri, A; Walker, G; Bellone, S; Prodam, F; Momigliano Richiardi, P; Bona, G; Giordano, M
Genetic diseases and molecular genetics.
2014-01-01 Athanasiou, Y; Zavros, M; Arsali, M; Papazachariou, L; Demosthenous, P; Savva, I; Voskarides, K; Deltas, C; Pierides, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder Plassmann, G; Torras, J; Neumann, P; Cybulla, M; Cofiell, R; Kukreja, A; Bedard, K; Yan, Y; Mickle, A; Ogawa, M; Bedrosian, C; Faas, S; Mészáros, K; Pruess, L; Gondan, M; Ritz, E; Schaefer, F; Testa, A; Spoto, B; Leonardis, D; Sanguedolce, Mc; Pisano, A; Parlongo, Mr; Tripepi, G; Mallamaci, F; Zoccali, C; Trujillano, D; Bullich, G; Ballarin, J; Torra, R; Estivill, X; Ars, E; Kleber, Me; Delgado, G; Grammer, Tb; Silbernagel, G; Kraemer, Bk; Maerz, W; Riccio, E; Pisani, A; Abdalla, Aa; Malone, Af; Winn, Mp; Goodship, T; Cronin, C; Conlon, Pj; Casserly, Lf; Nishio, S; Sakuhara, Y; Matsuoka, N; Yamamoto, J; Nakazawa, D; Nakagakaki, T; Abo, D; Shibazaki, S; Atsumi, T; Mazzinghi, B; Giglio, S; Provenzano, A; Becherucci, F; Sansavini, G; Ravaglia, F; Roperto, Rm; Murer, L; Lasagni, L; Materassi, M; Romagnani, P; Schmidts, M; Christou, S; Cortes, C; McInerney Leo, A; Kayserili, H; Zankl, A; Peter, S; Duncan, E; Wicking, C; Beales, Pl; Mitchison, H; Magestro, M; Vekeman, F; Nichols, T; Karner, P; Duh, Ms; Srivastava, B; Van Doorn Khosrovani, Sb; Zonnenberg, Ba; Musetti, Claudio; Quaglia, Marco; Ghiggeri, Gm; Fogazzi, Gb; Settanni, F; Boldorini, Renzo Luciano; Lazzarich, E; Airoldi, A; Izzo, C; Giordano, Mara; Stratta, Piero; Garrido, P; Fernandes, Jc; Ribeiro, S; Belo, L; Costa, Ec; Reis, F; Santos Silva, A; Youssef, Dm; Alshal, As; Salah, K; Rashed, Ae; Kingswood, Jc; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, Em; Korf, B; Flamini, Jr; Kohrman, Mh; Sparagana, S; Wu, Jy; Berkowitz, N; Miao, S; Segal, S; Ridolfi, A; Bissler, Jj; Franz, Dn; Oud, Mm; Van Bon, Bw; Bongers, Em; Hoischen, A; Marcelis, Cl; De Leeuw, N; Mol, Sj; Mortier, G; Knoers, Nv; Brunner, Hg; Roepman, R; Arts, Hh; Van Eerde, Am; Van Der Zwaag, B; Lilien, Mr; Renkema, Ky; De Borst, Mh; Van Haaften, G; Giles, Rh; Navis, Gj; Knoers, Nv; Lu, Kc; Su, Sl; Gigante, M; Santangelo, L; Diella, S; Argentiero, L; Cianciotta, F; Martino, M; Ranieri, E; Grandaliano, G; Giordano, M; Gesualdo, L; Fernandes, J; Ribeiro, S; Garrido, P; Sereno, J; Costa, E; Reis, F; Santos Silva, A; Chub, O; Aires, I; Polidori, D; Santos, Ar; Brito Costa, A; Simoes, C; Rueff, J; Nolasco, F; Calado, J; Van Der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Van Den Bergh Weerman, Ma; Hollak, Ce; Hughes, Da; Lachmann, Rh; Oliveira, Jp; Ortiz, A; Svarstad, E; Terryn, W; Tøndel, C; Waldek, S; Wanner, C; West, Ml; Linthorst, Ge; Kaesler, N; Brandenburg, V; Theuwissen, E; Vermeer, C; Floege, J; Schlieper, G; Krüger, T; Xydakis, D; Goulielmos, G; Antonaki, E; Stylianoy, K; Sfakianaki, M; Papadogiannakis, A; Dafnis, E; Mdimegh, S; Ben Hadj Mbarek Fredj, I; Moussa, A; Omezzine, A; Zellama, D; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Achour, A; Bouslama, A; Abroug, S; Spoto, B; Leonardis, D; Politi, C; Pisano, A; Cutrupi, S; Testa, A; Parlongo, Rm; D'Arrigo, G; Tripepi, G; Mallamaci, F; Zoccali, C; Mdimegh, S; Ben Hadj Mbarek Fredj, I; Moussa, A; Omezzine, A; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Zellama, D; Achour, A; Bouslama, A; Abroug, S; Hohenstein Scheibenecker, K; Schmidt, A; Stylianou, Kg; Kyriazis, J; Androvitsanea, A; Tzanakakis, M; Maragkaki, E; Petrakis, J; Stratakis, S; Poulidaki, R; Vardaki, E; Petra, C; Statigis, S; Perakis, K; Daphnis, E; Cybulla, M; West, M; Nicholls, K; Torras, J; Neumann, P; Sunder Plassmann, G; Feriozzi, S; Metzinger Le Meuth, V; Taïbi, F; M'Baya Moutoula, E; Louvet, L; Massy, Z; Metzinger, L; Mani, Ly; Sidler, D; Vogt, B; Nikolskaya, N; Cox, Ja; Kingswood, Jc; Smirnov, A; Zarayski, M; Kayukov, I; Karunnaya, H; Sipovski, V; Kukoleva, L; Dobronravov, V; Fabry Outcome Survey Renal Working, Group; On Behalf Of The MAURO Working, Group; Uk1ok, Consortium; On Behalf Of The MAURO Working, Group; Fabry Outcome Survey Renal Working, Group
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements.
2014-01-01 Babu, Deepak; Mellone, S; Fusco, Ileana; Petri, Antonella; Walker, Ge; Bellone, Simonetta; Prodam, Flavia; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
2014-01-01 Quaglia, Marco; Musetti, Claudio; Ghiggeri, G. M.; Fogazzi, G. B.; Settanni, F.; Boldorini, Renzo Luciano; Lazzarich, Elisa; Airoldi, A.; Izzo, C.; Giordano, Mara; Stratta, Piero
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy
2014-01-01 Quaglia, Marco; Musetti, Claudio; Gian Marco, Ghiggeri; Giovanni Battista, Fogazzi; Fabio, Settanni; Boldorini, Renzo Luciano; Elisa, Lazzarich; Andrea, Airoldi; Cristina, Izzo; Giordano, Mara; Stratta, Piero
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height.
2014-01-01 Prodam, Flavia; Savastio, S; Genoni, G; Babu, Deepak; Giordano, Mara; Ricotti, R; Aimaretti, Gianluca; Bona, Gianni; Bellone, Simonetta
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.
2014-01-01 Musetti, Claudio; Quaglia, Marco; Mellone, S; Pagani, A; Fusco, Ileana; Monzani, A; Giordano, Mara; Stratta, Piero
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.
2013-01-01 Matullo, G; Guarrera, S; Betti, Marta; Fiorito, G; Ferrante, Daniela; Voglino, F; Cadby, G; Di Gaetano, C; Rosa, F; Russo, A; Hirvonen, A; Casalone, E; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, F; Ruffini, E; Betta, Pg; Libener, R; Guaschino, R; Piccolini, E; Neri, M; Musk, Aw; De Klerk, Nh; Hui, J; Beilby, J; James, Al; Creaney, J; Robinson, Bw; Mukherjee, S; Palmer, Lj; Mirabelli, D; Ugolini, D; Bonassi, S; Magnani, Corrado; Dianzani, Irma
The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism.
2013-01-01 Moia, Stefania; Godi, M; Walker, Gillian Elisabeth; Roccio, M; Agretti, P; Tonacchera, M; Berardi, R; Bellone, Simonetta; Prodam, Flavia; Giordano, Mara; Bona, Gianni
Association of the (CA)(n) repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency.
2012-01-01 Miletta, Mc; Scheidegger, Ua; Giordano, Mara; Bozzola, M; Pagani, S; Bona, Gianni; Dattani, M; Hindmarsh, Pc; Petkovic, V; Oser Meier, M; Fluck, Ce; Mullis, P. E.
Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).
2012-01-01 Godi, M; Mellone, S; Tiradani, L; Marabese, R; Bardelli, C; Salerno, M; Prodam, Flavia; Bellone, Simonetta; Petri, Antonella; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing
2011-01-01 Vivenza, D; Godi, M; Faienza, Mf; Mellone, S; Moia, Stefania; Rapa, Anna; Petri, Antonella; Bellone, Simonetta; Riccomagno, S; Cavallo, L; Giordano, Mara; Bona, Gianni
XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study.
2011-01-01 Betti, Marta; Ferrante, Daniela; Padoan, Marina; Guarrera, S.; Giordano, Mara; Aspesi, Anna; Mirabelli, D.; Casadio, Caterina; Ardissone, . F.; Ruffini, E.; Betta, P. G.; Libener, R.; Guaschino, R.; Matullo, G.; Piccolini, E.; Magnani, Corrado; Dianzani, Irma
The case of the solitary sick kidney
2010-01-01 Stratta, Piero; Canavese, C; Monzani, Alice; Corrado, Lucia; Giordano, Mara
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population
2010-01-01 Mishto, M; Bellavista, E; Ligorio, C; TEXTORIS TAUBE, K; Santoro, A; Giordano, Mara; D'Alfonso, Sandra; Listì, F; Nacmias, B; Cellini, E; Leone, M; Grimaldi, Lm; Fenoglio, C; Esposito, F; MARTINELLI BONESCHI, F; Galimberti, D; Scarpini, E; Seifert, U; Amato, Mp; Caruso, C; Foschini, Mp; Kloetzel, Pm; Franceschi, C.
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.
2009-01-01 Carlomagno, Y; Salerno, M; Vivenza, D; Capalbo, D; Godi, M; Mellone, S; Tiradani, L; Corneli, G; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genetic causes of isolated and combined pituitary hormone deficiency | 1-gen-2016 | Giordano, Mara | |
| Hypomagnesemia and progressive chronic kidney disease: thinking of HNF1B and other genetic nephropathies | 1-gen-2015 | Musetti, Claudio; Quaglia, Marco; Stratta, Piero; Giordano, Mara | |
| Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort | 1-gen-2015 | DE RIENZO, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano Richardi, Patricia; Bona, Gianni; Giordano, Mara | |
| A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency | 1-gen-2015 | Giordano, Mara; Gertosio, C; Pagani, S; Meazza, C; Fusco, Ileana; Bozzola, E; Bozzola, M. | |
| NOVEL MUTATIONS IN THE GROWTH HORMONE GENE (GH1) UNCOVER PUTATIVE SPLICING REGULATORY ELEMENTS | 1-gen-2014 | Babu, D; Mellone, S; Fusco, I; Petri, A; Walker, G; Bellone, S; Prodam, F; Momigliano Richiardi, P; Bona, G; Giordano, M | |
| Genetic diseases and molecular genetics. | 1-gen-2014 | Athanasiou, Y; Zavros, M; Arsali, M; Papazachariou, L; Demosthenous, P; Savva, I; Voskarides, K; Deltas, C; Pierides, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder Plassmann, G; Torras, J; Neumann, P; Cybulla, M; Cofiell, R; Kukreja, A; Bedard, K; Yan, Y; Mickle, A; Ogawa, M; Bedrosian, C; Faas, S; Mészáros, K; Pruess, L; Gondan, M; Ritz, E; Schaefer, F; Testa, A; Spoto, B; Leonardis, D; Sanguedolce, Mc; Pisano, A; Parlongo, Mr; Tripepi, G; Mallamaci, F; Zoccali, C; Trujillano, D; Bullich, G; Ballarin, J; Torra, R; Estivill, X; Ars, E; Kleber, Me; Delgado, G; Grammer, Tb; Silbernagel, G; Kraemer, Bk; Maerz, W; Riccio, E; Pisani, A; Abdalla, Aa; Malone, Af; Winn, Mp; Goodship, T; Cronin, C; Conlon, Pj; Casserly, Lf; Nishio, S; Sakuhara, Y; Matsuoka, N; Yamamoto, J; Nakazawa, D; Nakagakaki, T; Abo, D; Shibazaki, S; Atsumi, T; Mazzinghi, B; Giglio, S; Provenzano, A; Becherucci, F; Sansavini, G; Ravaglia, F; Roperto, Rm; Murer, L; Lasagni, L; Materassi, M; Romagnani, P; Schmidts, M; Christou, S; Cortes, C; McInerney Leo, A; Kayserili, H; Zankl, A; Peter, S; Duncan, E; Wicking, C; Beales, Pl; Mitchison, H; Magestro, M; Vekeman, F; Nichols, T; Karner, P; Duh, Ms; Srivastava, B; Van Doorn Khosrovani, Sb; Zonnenberg, Ba; Musetti, Claudio; Quaglia, Marco; Ghiggeri, Gm; Fogazzi, Gb; Settanni, F; Boldorini, Renzo Luciano; Lazzarich, E; Airoldi, A; Izzo, C; Giordano, Mara; Stratta, Piero; Garrido, P; Fernandes, Jc; Ribeiro, S; Belo, L; Costa, Ec; Reis, F; Santos Silva, A; Youssef, Dm; Alshal, As; Salah, K; Rashed, Ae; Kingswood, Jc; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, Em; Korf, B; Flamini, Jr; Kohrman, Mh; Sparagana, S; Wu, Jy; Berkowitz, N; Miao, S; Segal, S; Ridolfi, A; Bissler, Jj; Franz, Dn; Oud, Mm; Van Bon, Bw; Bongers, Em; Hoischen, A; Marcelis, Cl; De Leeuw, N; Mol, Sj; Mortier, G; Knoers, Nv; Brunner, Hg; Roepman, R; Arts, Hh; Van Eerde, Am; Van Der Zwaag, B; Lilien, Mr; Renkema, Ky; De Borst, Mh; Van Haaften, G; Giles, Rh; Navis, Gj; Knoers, Nv; Lu, Kc; Su, Sl; Gigante, M; Santangelo, L; Diella, S; Argentiero, L; Cianciotta, F; Martino, M; Ranieri, E; Grandaliano, G; Giordano, M; Gesualdo, L; Fernandes, J; Ribeiro, S; Garrido, P; Sereno, J; Costa, E; Reis, F; Santos Silva, A; Chub, O; Aires, I; Polidori, D; Santos, Ar; Brito Costa, A; Simoes, C; Rueff, J; Nolasco, F; Calado, J; Van Der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Van Den Bergh Weerman, Ma; Hollak, Ce; Hughes, Da; Lachmann, Rh; Oliveira, Jp; Ortiz, A; Svarstad, E; Terryn, W; Tøndel, C; Waldek, S; Wanner, C; West, Ml; Linthorst, Ge; Kaesler, N; Brandenburg, V; Theuwissen, E; Vermeer, C; Floege, J; Schlieper, G; Krüger, T; Xydakis, D; Goulielmos, G; Antonaki, E; Stylianoy, K; Sfakianaki, M; Papadogiannakis, A; Dafnis, E; Mdimegh, S; Ben Hadj Mbarek Fredj, I; Moussa, A; Omezzine, A; Zellama, D; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Achour, A; Bouslama, A; Abroug, S; Spoto, B; Leonardis, D; Politi, C; Pisano, A; Cutrupi, S; Testa, A; Parlongo, Rm; D'Arrigo, G; Tripepi, G; Mallamaci, F; Zoccali, C; Mdimegh, S; Ben Hadj Mbarek Fredj, I; Moussa, A; Omezzine, A; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Zellama, D; Achour, A; Bouslama, A; Abroug, S; Hohenstein Scheibenecker, K; Schmidt, A; Stylianou, Kg; Kyriazis, J; Androvitsanea, A; Tzanakakis, M; Maragkaki, E; Petrakis, J; Stratakis, S; Poulidaki, R; Vardaki, E; Petra, C; Statigis, S; Perakis, K; Daphnis, E; Cybulla, M; West, M; Nicholls, K; Torras, J; Neumann, P; Sunder Plassmann, G; Feriozzi, S; Metzinger Le Meuth, V; Taïbi, F; M'Baya Moutoula, E; Louvet, L; Massy, Z; Metzinger, L; Mani, Ly; Sidler, D; Vogt, B; Nikolskaya, N; Cox, Ja; Kingswood, Jc; Smirnov, A; Zarayski, M; Kayukov, I; Karunnaya, H; Sipovski, V; Kukoleva, L; Dobronravov, V; Fabry Outcome Survey Renal Working, Group; On Behalf Of The MAURO Working, Group; Uk1ok, Consortium; On Behalf Of The MAURO Working, Group; Fabry Outcome Survey Renal Working, Group | |
| Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. | 1-gen-2014 | Babu, Deepak; Mellone, S; Fusco, Ileana; Petri, Antonella; Walker, Ge; Bellone, Simonetta; Prodam, Flavia; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara | |
| Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. | 1-gen-2014 | Quaglia, Marco; Musetti, Claudio; Ghiggeri, G. M.; Fogazzi, G. B.; Settanni, F.; Boldorini, Renzo Luciano; Lazzarich, Elisa; Airoldi, A.; Izzo, C.; Giordano, Mara; Stratta, Piero | |
| Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy | 1-gen-2014 | Quaglia, Marco; Musetti, Claudio; Gian Marco, Ghiggeri; Giovanni Battista, Fogazzi; Fabio, Settanni; Boldorini, Renzo Luciano; Elisa, Lazzarich; Andrea, Airoldi; Cristina, Izzo; Giordano, Mara; Stratta, Piero | |
| Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. | 1-gen-2014 | Prodam, Flavia; Savastio, S; Genoni, G; Babu, Deepak; Giordano, Mara; Ricotti, R; Aimaretti, Gianluca; Bona, Gianni; Bellone, Simonetta | |
| Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. | 1-gen-2014 | Musetti, Claudio; Quaglia, Marco; Mellone, S; Pagani, A; Fusco, Ileana; Monzani, A; Giordano, Mara; Stratta, Piero | |
| Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study. | 1-gen-2013 | Matullo, G; Guarrera, S; Betti, Marta; Fiorito, G; Ferrante, Daniela; Voglino, F; Cadby, G; Di Gaetano, C; Rosa, F; Russo, A; Hirvonen, A; Casalone, E; Tunesi, Sara; Padoan, Marina; Giordano, Mara; Aspesi, Anna; Casadio, Caterina; Ardissone, F; Ruffini, E; Betta, Pg; Libener, R; Guaschino, R; Piccolini, E; Neri, M; Musk, Aw; De Klerk, Nh; Hui, J; Beilby, J; James, Al; Creaney, J; Robinson, Bw; Mukherjee, S; Palmer, Lj; Mirabelli, D; Ugolini, D; Bonassi, S; Magnani, Corrado; Dianzani, Irma | |
| The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. | 1-gen-2013 | Moia, Stefania; Godi, M; Walker, Gillian Elisabeth; Roccio, M; Agretti, P; Tonacchera, M; Berardi, R; Bellone, Simonetta; Prodam, Flavia; Giordano, Mara; Bona, Gianni | |
| Association of the (CA)(n) repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. | 1-gen-2012 | Miletta, Mc; Scheidegger, Ua; Giordano, Mara; Bozzola, M; Pagani, S; Bona, Gianni; Dattani, M; Hindmarsh, Pc; Petkovic, V; Oser Meier, M; Fluck, Ce; Mullis, P. E. | |
| Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD). | 1-gen-2012 | Godi, M; Mellone, S; Tiradani, L; Marabese, R; Bardelli, C; Salerno, M; Prodam, Flavia; Bellone, Simonetta; Petri, Antonella; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara | |
| A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing | 1-gen-2011 | Vivenza, D; Godi, M; Faienza, Mf; Mellone, S; Moia, Stefania; Rapa, Anna; Petri, Antonella; Bellone, Simonetta; Riccomagno, S; Cavallo, L; Giordano, Mara; Bona, Gianni | |
| XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study. | 1-gen-2011 | Betti, Marta; Ferrante, Daniela; Padoan, Marina; Guarrera, S.; Giordano, Mara; Aspesi, Anna; Mirabelli, D.; Casadio, Caterina; Ardissone, . F.; Ruffini, E.; Betta, P. G.; Libener, R.; Guaschino, R.; Matullo, G.; Piccolini, E.; Magnani, Corrado; Dianzani, Irma | |
| The case of the solitary sick kidney | 1-gen-2010 | Stratta, Piero; Canavese, C; Monzani, Alice; Corrado, Lucia; Giordano, Mara | |
| Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population | 1-gen-2010 | Mishto, M; Bellavista, E; Ligorio, C; TEXTORIS TAUBE, K; Santoro, A; Giordano, Mara; D'Alfonso, Sandra; Listì, F; Nacmias, B; Cellini, E; Leone, M; Grimaldi, Lm; Fenoglio, C; Esposito, F; MARTINELLI BONESCHI, F; Galimberti, D; Scarpini, E; Seifert, U; Amato, Mp; Caruso, C; Foschini, Mp; Kloetzel, Pm; Franceschi, C. | |
| A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. | 1-gen-2009 | Carlomagno, Y; Salerno, M; Vivenza, D; Capalbo, D; Godi, M; Mellone, S; Tiradani, L; Corneli, G; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara |
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