Sfoglia per Autore
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
2017-01-01 Errichiello, Edoardo; Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach
2017-01-01 Stagi, Stefano; Bianconi, M; Sammarco, Ma; Artuso, R; Giglio, SABRINA RITA; MARTINO M, De
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient
2017-01-01 Guidi, Milena; Giunti, Laura; Lucchesi, Maurizio; Scoccianti, Silvia; Giglio, SABRINA RITA; Favre, Claudio; Oliveri, Giuseppe; Sardi, Iacopo
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene
2017-01-01 Bargiacchi, Sara; Della Monica, Matteo; Biagiotti, Roberto; Andreucci, Elena; Ciabattoni, Serena; Poggi, Paolo; DI MAURIZIO, Marco; Defilippi, Claudio; Cariati, Ettore; Giglio, Sabrina
SLMSuite: a suite of algorithms for segmenting genomic profiles
2017-01-01 Orlandini, Valerio; Provenzano, Aldesia; Giglio, SABRINA RITA; Magi, Alberto
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
2017-01-01 Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; Van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A; Delahaye, Andrã©e; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012
2017-01-01 Delvecchio, Maurizio; Mozzillo, Enza; Salzano, Giuseppina; Iafusco, Dario; Frontino, Giulio; Patera, Patrizia I.; Rabbone, Ivana; Cherubini, Valentino; Grasso, Valeria; Tinto, Nadia; Giglio, Sabrina; Contreas, Giovanna; Di Paola, Rosa; Salina, Alessandro; Cauvin, Vittoria; Tumini, Stefano; D'Annunzio, Giuseppe; Iughetti, Lorenzo; Mantovani, Vilma; Maltoni, Giulio; Toni, Sonia; Marigliano, Marco; Barbetti, Fabrizio
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1
2017-01-01 Rubegni, Anna; Pisano, Tiziana; Bacci, Giacomo; Tessa, Alessandra; Battini, Roberta; Procopio, Elena; Giglio, Sabrina; Pasquariello, Rosa; Santorelli, Filippo Maria; Guerrini, Renzo; Nesti, Claudia
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
2016-01-01 M., Callea; P., Nieminen; C. E., Willoughby; G., Clarich; I., Yavuz; A., Vinciguerra; M., Di Stazio; Giglio, SABRINA RITA; I., Sani; M., Maglione; S., Pensiero; G., Tadini; E., Bellacchio
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?
2016-01-01 Becherucci, Francesca; Mazzinghi, Benedetta; Provenzano, Aldesia; Murer, Luisa; Giglio, SABRINA RITA; Romagnani, Paola
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis
2016-01-01 Guglielmelli, Paola; Rotunno, Giada; Bogani, Costanza; Mannarelli, Carmela; Giunti, Laura; Provenzano, Aldesia; Giglio, SABRINA RITA
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis
2016-01-01 Giunti, Laura; Buccoliero, Anna Maria; Pantaleo, Marilena; Lucchesi, Maurizio; Provenzano, Aldesia; Palazzo, Viviana; Guarducci, Silvia; Guidi, Milena; Genitori, Lorenzo; Zuffardi, Orsetta; Sardi, Iacopo; Giglio, SABRINA RITA
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype
2016-01-01 Piccini, Barbara; Artuso, Rosangela; Lenzi, Lorenzo; Guasti, Monica; Braccesi, Giulia; Barni, Federica; Casalini, Emilio; Giglio, SABRINA RITA; Toni, Sonia
Bone mineral status in children and adolescents with klinefelter syndrome
2016-01-01 Stagi, Stefano; DI TOMMASO, Mariarosaria; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Lapi, Elisabetta; Giglio, SABRINA RITA; Dosa, Laura; DE MARTINO, Maurizio
Bone mineral status and metabolism in patients with Williams-Beuren syndrome
2016-01-01 Stagi, Stefano; Manoni, MARIA CRISTINA; Scalini, Perla; Chiarelli, F; Verrotti, A; Cecchi, C; Lapi, E; Giglio, SABRINA RITA; Romano, S; DE MARTINO, Maurizio
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS
2016-01-01 Giunti, L; Lucchesi, M; Palazzo, Viviana; Guidi, M; Genitori, L; Giglio, SABRINA RITA; Sardi, I.
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis
2016-01-01 Romagnani, Paola; Giglio, SABRINA RITA; Angelotti, MARIA LUCIA; Provenzano, Aldesia; Becherucci, Francesca; Mazzinghi, Benedetta; Müller, Susanna; Amann, Kerstin; Weidenbusch, Marc; Romoli, Simone; Lazzeri, Elena; Anders, Hans Joachim
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia
2015-01-01 Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes
2015-01-01 R., Artuso; Provenzano, Aldesia; B., Mazzinghi; L., Giunti; Palazzo, Viviana; Andreucci, Elena; A., Blasetti; R. M., Chiuri; F. E., Gianiorio; P., Mandich; M., Monami; Mannucci, Edoardo; Giglio, SABRINA RITA
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion
2015-01-01 Traficante, G; Biagiotti, R; Andreucci, E; DI TOMMASO, Mariarosaria; Provenzano, Aldesia; Cariati, E; Giglio, SABRINA RITA
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type | 1-gen-2017 | Errichiello, Edoardo; Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta | JOURNAL OF PATHOLOGY | - |
| New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach | 1-gen-2017 | Stagi, Stefano; Bianconi, M; Sammarco, Ma; Artuso, R; Giglio, SABRINA RITA; MARTINO M, De | - | IntechOpen |
| Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient | 1-gen-2017 | Guidi, Milena; Giunti, Laura; Lucchesi, Maurizio; Scoccianti, Silvia; Giglio, SABRINA RITA; Favre, Claudio; Oliveri, Giuseppe; Sardi, Iacopo | FUTURE ONCOLOGY | - |
| Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene | 1-gen-2017 | Bargiacchi, Sara; Della Monica, Matteo; Biagiotti, Roberto; Andreucci, Elena; Ciabattoni, Serena; Poggi, Paolo; DI MAURIZIO, Marco; Defilippi, Claudio; Cariati, Ettore; Giglio, Sabrina | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
| SLMSuite: a suite of algorithms for segmenting genomic profiles | 1-gen-2017 | Orlandini, Valerio; Provenzano, Aldesia; Giglio, SABRINA RITA; Magi, Alberto | BMC BIOINFORMATICS | - |
| Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases | 1-gen-2017 | Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; Van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A; Delahaye, Andrã©e; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 | 1-gen-2017 | Delvecchio, Maurizio; Mozzillo, Enza; Salzano, Giuseppina; Iafusco, Dario; Frontino, Giulio; Patera, Patrizia I.; Rabbone, Ivana; Cherubini, Valentino; Grasso, Valeria; Tinto, Nadia; Giglio, Sabrina; Contreas, Giovanna; Di Paola, Rosa; Salina, Alessandro; Cauvin, Vittoria; Tumini, Stefano; D'Annunzio, Giuseppe; Iughetti, Lorenzo; Mantovani, Vilma; Maltoni, Giulio; Toni, Sonia; Marigliano, Marco; Barbetti, Fabrizio | THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM | - |
| Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 | 1-gen-2017 | Rubegni, Anna; Pisano, Tiziana; Bacci, Giacomo; Tessa, Alessandra; Battini, Roberta; Procopio, Elena; Giglio, Sabrina; Pasquariello, Rosa; Santorelli, Filippo Maria; Guerrini, Renzo; Nesti, Claudia | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | - |
| A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family | 1-gen-2016 | M., Callea; P., Nieminen; C. E., Willoughby; G., Clarich; I., Yavuz; A., Vinciguerra; M., Di Stazio; Giglio, SABRINA RITA; I., Sani; M., Maglione; S., Pensiero; G., Tadini; E., Bellacchio | JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | - |
| Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? | 1-gen-2016 | Becherucci, Francesca; Mazzinghi, Benedetta; Provenzano, Aldesia; Murer, Luisa; Giglio, SABRINA RITA; Romagnani, Paola | JN. JOURNAL OF NEPHROLOGY | - |
| Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis | 1-gen-2016 | Guglielmelli, Paola; Rotunno, Giada; Bogani, Costanza; Mannarelli, Carmela; Giunti, Laura; Provenzano, Aldesia; Giglio, SABRINA RITA | BRITISH JOURNAL OF HAEMATOLOGY | - |
| Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis | 1-gen-2016 | Giunti, Laura; Buccoliero, Anna Maria; Pantaleo, Marilena; Lucchesi, Maurizio; Provenzano, Aldesia; Palazzo, Viviana; Guarducci, Silvia; Guidi, Milena; Genitori, Lorenzo; Zuffardi, Orsetta; Sardi, Iacopo; Giglio, SABRINA RITA | AMERICAN JOURNAL OF CANCER RESEARCH | - |
| Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype | 1-gen-2016 | Piccini, Barbara; Artuso, Rosangela; Lenzi, Lorenzo; Guasti, Monica; Braccesi, Giulia; Barni, Federica; Casalini, Emilio; Giglio, SABRINA RITA; Toni, Sonia | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
| Bone mineral status in children and adolescents with klinefelter syndrome | 1-gen-2016 | Stagi, Stefano; DI TOMMASO, Mariarosaria; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Lapi, Elisabetta; Giglio, SABRINA RITA; Dosa, Laura; DE MARTINO, Maurizio | INTERNATIONAL JOURNAL OF ENDOCRINOLOGY | - |
| Bone mineral status and metabolism in patients with Williams-Beuren syndrome | 1-gen-2016 | Stagi, Stefano; Manoni, MARIA CRISTINA; Scalini, Perla; Chiarelli, F; Verrotti, A; Cecchi, C; Lapi, E; Giglio, SABRINA RITA; Romano, S; DE MARTINO, Maurizio | HORMONES | - |
| MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS | 1-gen-2016 | Giunti, L; Lucchesi, M; Palazzo, Viviana; Guidi, M; Genitori, L; Giglio, SABRINA RITA; Sardi, I. | NEURO-ONCOLOGY | - |
| Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis | 1-gen-2016 | Romagnani, Paola; Giglio, SABRINA RITA; Angelotti, MARIA LUCIA; Provenzano, Aldesia; Becherucci, Francesca; Mazzinghi, Benedetta; Müller, Susanna; Amann, Kerstin; Weidenbusch, Marc; Romoli, Simone; Lazzeri, Elena; Anders, Hans Joachim | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
| Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia | 1-gen-2015 | Chianese, C; Fino, M G; Riera Escamilla, A; López Rodrigo, O; Vinci, S; Guarducci, E; Daguin, F; Muratori, M; Tamburrino, L; Lo Giacco, D; Ars, E; Bassas, L; Costa, M; Pisatauro, V; Noci, I; Coccia, E; Provenzano, A; Ruiz-Castañé, E; Giglio, S; Piomboni, P; Krausz, C | ANDROLOGY | - |
| Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes | 1-gen-2015 | R., Artuso; Provenzano, Aldesia; B., Mazzinghi; L., Giunti; Palazzo, Viviana; Andreucci, Elena; A., Blasetti; R. M., Chiuri; F. E., Gianiorio; P., Mandich; M., Monami; Mannucci, Edoardo; Giglio, SABRINA RITA | PHARMACOGENOMICS JOURNAL | - |
| Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion | 1-gen-2015 | Traficante, G; Biagiotti, R; Andreucci, E; DI TOMMASO, Mariarosaria; Provenzano, Aldesia; Cariati, E; Giglio, SABRINA RITA | CLINICAL CASE REPORTS | - |
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