Sfoglia per Autore
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing
2014-01-01 Mazzinghi, B.; Lazzeri, E.; Ronconi, E.; Becherucci, F.; Aldesia, Provenzano; Sansavini, G.; Sisti, A.; Peired, A.; Angelotti, M.; Laura, Lasagni; Paola, Romagnani; Giglio, S.
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review
2014-01-01 Stagi, Stefano; Elisabetta, Lapi; Marilena, Pantaleo; Giovanna, Traficante; Giglio, SABRINA RITA; Seminara, Salvatore; DE MARTINO, Maurizio
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS
2014-01-01 Lazzeri, Elena; Ronconi, Elisa; Angelotti, MARIA LUCIA; Peired, ANNA JULIE; Mazzinghi, B; Becherucci, F; Sansavini, G; Sisti, A; Provenzano, Aldesia; Giglio, SABRINA RITA; Lasagni, Laura; Romagnani, Paola
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency
2014-01-01 C., Krausz; Chianese, Chiara; D., Lo Giacco; F., Tuttelmann; A., Ferlin; P., Ntostis; S., Vinci; G., Balercia; E., Ars; E., Ruiz Castane; Giglio, SABRINA RITA; S., Kliesch; G., Forti
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis
2014-01-01 Giunti, L; da Ros, M; Vinci, Serena; Gelmini, S; Iorio, Al; Buccoliero, Am; Cardellicchio, S; Castiglione, Francesca; Genitori, L; DE MARTINO, Maurizio; Giglio, SABRINA RITA; Genuardi, M; Sardi, I. 2.
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments
2014-01-01 Mazzinghi, B.; Giglio, SABRINA RITA; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, G.; Ravaglia, F.; Romagnani, Paola
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis
2014-01-01 Stagi, Stefano; Elisabetta, Lapi; Salvatore, Seminara; Silvia, Guarducci; Marilena, Pantaleo; Giglio, SABRINA RITA; Francesco, Chiarelli; Maurizio de, Martino
Calreticulin Mutation Is Associated with Milder Disease in Patients with Post Essential Thrombocythemia Myelofibrosis (PET-MF) Compared with JAK2V617F Mutation: A Study from the AGIMM Group
2014-01-01 Guglielmelli, Paola; Giada, Rotunno; Giada, Brogi; Annalisa, Pacilli; Costanza, Bogani; Mannarelli, Carmela; Alessandro, Pancrazzi; Rajmonda, Fjerza; Pieri, Lisa; Elisa, Rumi; Daniela, Pietra; Federica, Delaini; Silvia, Salmoiraghi; Provenzano, Aldesia; Laura, Giunti; Giglio, SABRINA RITA; Margherita, Maffioli; Bosi, Alberto; Alessandro, Rambaldi; Tiziano, Barbui; Francesco, Passamonti; Mario, Cazzola; Alessandro Maria Vannucchi,
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases
2014-01-01 Stagi, Stefano; Manoni, Cristina; Cirello, Valentina; Covelli, Danila; Giglio, SABRINA RITA; Chiarelli, Francesco; Seminara, Salvatore; DE MARTINO, Maurizio
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome
2014-01-01 Giglio, S; Provenzano, A; Mazzinghi, B; Becherucci, F; Giunti, L; Sansavini, G; Ravaglia, F; Roperto, Rm; Farsetti, S; Benetti, E; Rotondi, M; Murer, ; Eazzeri, E; Lasagni, L; Materassi, M; Romagnani, P
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis
2013-01-01 Palazzo, V.; Aldesia, Provenzano; Artuso, R.; Andreucci, E.; Materassi, M.; Emma, F.; Benetti, E.; Caruso, M.; Ghiggeri, G.; Genuardi, M.; Paola, Romagnani; Pela, I.; Giglio, S.
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali
2013-01-01 Viviana, Palazzo; Aldesia, Provenzano; Artuso, R.; Andreucci, E.; Materassi, M.; Emma, F.; Benetti, E.; Caruso, M.; Ghiggeri, G.; Genuardi, M.; Romagnai, P.; Pela, I.; Giglio, S.
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING
2013-01-01 Andreucci, E.; Romano, S.; Aldesia, Provenzano; Viviana, Palazzo; Mazzinghi, B.; Pantaleo, M.; Giunti, L.; Lapi, E.; Zuffardi, O.; Giglio, S.
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome
2013-01-01 Aldesia, Provenzano; Mazzinghi, B.; Giunti, L.; Becherucci, F.; Murer, L.; Materassi, M.; Romagnani, P.; Giglio, S.
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication
2013-01-01 Carla, Marini; Antonella, Cecconi; Elisa, Contini; Marilena, Pantaleo; Tiziana, Metitieri; Silvia, Guarducci; Giglio, SABRINA RITA; Guerrini, Renzo; Maurizio, Genuardi
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency
2013-01-01 Chianese, Chiara; Lo Giacco, D; Tüttelmann, F; Ferlin, A; Ntostis, P; Vinci, Serena; Balercia, G; Ars, E; Ruiz Castañé, E; Giglio, SABRINA RITA; Forti, Gianni; Kliesch, S; Krausz, CSILLA GABRIELLA
Expression of β-adrenergic receptors in pediatric malignant brain tumors
2013-01-01 Sardi, I; Giunti, L; Bresci, C; Buccoliero, ANNA MARIA; ROSSI DEGL'INNOCENTI, Duccio; Cardellicchio, S; Baroni, G; Castiglione, Francesca; Ros, Md; Fiorini, P; Giglio, SABRINA RITA; Genitori, L; Aricò, M; Filippi, L.
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome
2012-01-01 Aldesia, Provenzano; Mazzinghi, B.; Tesi, B.; Materassi, M.; Romagnani, P.; Giglio, S.
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
2012-01-01 Rossi, E; Giorda, R; Bonaglia, Mc; Candia, Sd; Grechi, E; Franzese, A; Soli, F; Rivieri, F; Patricelli, Mg; Saccilotto, D; Bonfante, A; Giglio, SABRINA RITA; Beri, S; Rocchi, M; Zuffardi, O.
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
2012-01-01 Ferri, L; Guido, C; LA MARCA, Giancarlo; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, R; Giglio, SABRINA RITA; Della Valle, C; Wu, X; Valenzano, K; Benjamin, E; Donati, M; Guerrini, Renzo; Genuardi, M; Morrone, Amelia
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing | 1-gen-2014 | Mazzinghi, B.; Lazzeri, E.; Ronconi, E.; Becherucci, F.; Aldesia, Provenzano; Sansavini, G.; Sisti, A.; Peired, A.; Angelotti, M.; Laura, Lasagni; Paola, Romagnani; Giglio, S. | - | Nature Publishing Group |
| A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review | 1-gen-2014 | Stagi, Stefano; Elisabetta, Lapi; Marilena, Pantaleo; Giovanna, Traficante; Giglio, SABRINA RITA; Seminara, Salvatore; DE MARTINO, Maurizio | HORMONES | - |
| URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS | 1-gen-2014 | Lazzeri, Elena; Ronconi, Elisa; Angelotti, MARIA LUCIA; Peired, ANNA JULIE; Mazzinghi, B; Becherucci, F; Sansavini, G; Sisti, A; Provenzano, Aldesia; Giglio, SABRINA RITA; Lasagni, Laura; Romagnani, Paola | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
| Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency | 1-gen-2014 | C., Krausz; Chianese, Chiara; D., Lo Giacco; F., Tuttelmann; A., Ferlin; P., Ntostis; S., Vinci; G., Balercia; E., Ars; E., Ruiz Castane; Giglio, SABRINA RITA; S., Kliesch; G., Forti | HUMAN REPRODUCTION | - |
| Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis | 1-gen-2014 | Giunti, L; da Ros, M; Vinci, Serena; Gelmini, S; Iorio, Al; Buccoliero, Am; Cardellicchio, S; Castiglione, Francesca; Genitori, L; DE MARTINO, Maurizio; Giglio, SABRINA RITA; Genuardi, M; Sardi, I. 2. | AMERICAN JOURNAL OF CANCER RESEARCH | - |
| High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments | 1-gen-2014 | Mazzinghi, B.; Giglio, SABRINA RITA; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, G.; Ravaglia, F.; Romagnani, Paola | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
| Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis | 1-gen-2014 | Stagi, Stefano; Elisabetta, Lapi; Salvatore, Seminara; Silvia, Guarducci; Marilena, Pantaleo; Giglio, SABRINA RITA; Francesco, Chiarelli; Maurizio de, Martino | BMC ENDOCRINE DISORDERS | - |
| Calreticulin Mutation Is Associated with Milder Disease in Patients with Post Essential Thrombocythemia Myelofibrosis (PET-MF) Compared with JAK2V617F Mutation: A Study from the AGIMM Group | 1-gen-2014 | Guglielmelli, Paola; Giada, Rotunno; Giada, Brogi; Annalisa, Pacilli; Costanza, Bogani; Mannarelli, Carmela; Alessandro, Pancrazzi; Rajmonda, Fjerza; Pieri, Lisa; Elisa, Rumi; Daniela, Pietra; Federica, Delaini; Silvia, Salmoiraghi; Provenzano, Aldesia; Laura, Giunti; Giglio, SABRINA RITA; Margherita, Maffioli; Bosi, Alberto; Alessandro, Rambaldi; Tiziano, Barbui; Francesco, Passamonti; Mario, Cazzola; Alessandro Maria Vannucchi, | BLOOD | American Society of Hematology |
| Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases | 1-gen-2014 | Stagi, Stefano; Manoni, Cristina; Cirello, Valentina; Covelli, Danila; Giglio, SABRINA RITA; Chiarelli, Francesco; Seminara, Salvatore; DE MARTINO, Maurizio | HORMONES | - |
| Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome | 1-gen-2014 | Giglio, S; Provenzano, A; Mazzinghi, B; Becherucci, F; Giunti, L; Sansavini, G; Ravaglia, F; Roperto, Rm; Farsetti, S; Benetti, E; Rotondi, M; Murer, ; Eazzeri, E; Lasagni, L; Materassi, M; Romagnani, P | PEDIATRIC NEPHROLOGY | - |
| Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis | 1-gen-2013 | Palazzo, V.; Aldesia, Provenzano; Artuso, R.; Andreucci, E.; Materassi, M.; Emma, F.; Benetti, E.; Caruso, M.; Ghiggeri, G.; Genuardi, M.; Paola, Romagnani; Pela, I.; Giglio, S. | - | Nature Publishing Group |
| NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali | 1-gen-2013 | Viviana, Palazzo; Aldesia, Provenzano; Artuso, R.; Andreucci, E.; Materassi, M.; Emma, F.; Benetti, E.; Caruso, M.; Ghiggeri, G.; Genuardi, M.; Romagnai, P.; Pela, I.; Giglio, S. | - | Società Genetica Umana |
| TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING | 1-gen-2013 | Andreucci, E.; Romano, S.; Aldesia, Provenzano; Viviana, Palazzo; Mazzinghi, B.; Pantaleo, M.; Giunti, L.; Lapi, E.; Zuffardi, O.; Giglio, S. | - | Società Genetica Umana |
| Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome | 1-gen-2013 | Aldesia, Provenzano; Mazzinghi, B.; Giunti, L.; Becherucci, F.; Murer, L.; Materassi, M.; Romagnani, P.; Giglio, S. | - | Nature Publishing Group |
| Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication | 1-gen-2013 | Carla, Marini; Antonella, Cecconi; Elisa, Contini; Marilena, Pantaleo; Tiziana, Metitieri; Silvia, Guarducci; Giglio, SABRINA RITA; Guerrini, Renzo; Maurizio, Genuardi | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |
| Y-chromosome microdeletions are not associated with SHOX haploinsufficiency | 1-gen-2013 | Chianese, Chiara; Lo Giacco, D; Tüttelmann, F; Ferlin, A; Ntostis, P; Vinci, Serena; Balercia, G; Ars, E; Ruiz Castañé, E; Giglio, SABRINA RITA; Forti, Gianni; Kliesch, S; Krausz, CSILLA GABRIELLA | HUMAN REPRODUCTION | - |
| Expression of β-adrenergic receptors in pediatric malignant brain tumors | 1-gen-2013 | Sardi, I; Giunti, L; Bresci, C; Buccoliero, ANNA MARIA; ROSSI DEGL'INNOCENTI, Duccio; Cardellicchio, S; Baroni, G; Castiglione, Francesca; Ros, Md; Fiorini, P; Giglio, SABRINA RITA; Genitori, L; Aricò, M; Filippi, L. | ONCOLOGY LETTERS | - |
| Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome | 1-gen-2012 | Aldesia, Provenzano; Mazzinghi, B.; Tesi, B.; Materassi, M.; Romagnani, P.; Giglio, S. | - | Nature Publishing Group |
| De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s | 1-gen-2012 | Rossi, E; Giorda, R; Bonaglia, Mc; Candia, Sd; Grechi, E; Franzese, A; Soli, F; Rivieri, F; Patricelli, Mg; Saccilotto, D; Bonfante, A; Giglio, SABRINA RITA; Beri, S; Rocchi, M; Zuffardi, O. | PLOS ONE | - |
| Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene | 1-gen-2012 | Ferri, L; Guido, C; LA MARCA, Giancarlo; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, R; Giglio, SABRINA RITA; Della Valle, C; Wu, X; Valenzano, K; Benjamin, E; Donati, M; Guerrini, Renzo; Genuardi, M; Morrone, Amelia | CLINICAL GENETICS | - |
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