GIGLIO, SABRINA RITA
GIGLIO, SABRINA RITA
DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
2007-01-01 Ballarati, L; Rossi, E; Bonati, Mt; Gimelli, S; Maraschio, P; Finelli, P; Giglio, SABRINA RITA; Lapi, E; Bedeschi, Mf; Guerneri, S; Arrigo, G; Patricelli, Mg; Mattina, T; Guzzardi, O; Pecile, V; Police, A; Scarano, G; Larizza, L; Zuffardi, O; Giardino, D.
6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome?
2007-01-01 Andreucci, E; Toni S. Ciccone R., De Gregori M; Giunti, L; Sani, I; Guarducci, ; S., Genuardi M; Zuffardi, O; Giglio, SABRINA RITA
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
2005-01-01 Elena, Rossi; Manuela de, Gregori; Maria Grazia, Patricelli; Tiziano, Pramparo; Luisa, Argentiero; Giglio, SABRINA RITA; Katiuscia, Sosta; Giovanni, Foresti; Orsetta, Zuffardi
A de novo 2q interstitial deletion in a patient with a Turner phenotype
2007-01-01 Giglio, SABRINA RITA; Andreucci, Elena; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, Salvatore; Genuardi, ; O. Zuffardi, M. Genuardi; O., Zuffardi
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation
2019-01-01 Giunti, Laura; Da Ros, Martina; De Gregorio, Veronica; Magi, Alberto; Landini, Samuela; Mazzinghi, Benedetta; Buccoliero, Anna Maria; Genitori, Lorenzo; Giglio, Sabrina; Sardi, Iacopo
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
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere
1998-01-01 Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Munn, S; Mazzarella, R; Rao, E; Giglio, SABRINA RITA; Rappold, G; Forabosco, A.
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions
2021-01-01 Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R.
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia
2021-01-01 Guazzarotti, Laura; Sani, Ilaria; Giglio, SABRINA RITA; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population
2022-01-01 Mocci, Stefano; Littera, Roberto; Tranquilli, Stefania; Provenzano, Aldesia; Mascia, Alessia; Cannas, Federica; Lai, Sara; Giuressi, Erika; Chessa, Luchino; Angioni, Goffredo; Campagna, Marcello; Firinu, Davide; DEL ZOMPO, Maria; LA NASA, Giorgio; Perra, Andrea; Giglio, SABRINA RITA
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
A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study
2018-01-01 Lucenteforte, E.; Vagnoli, L.; Pugi, A.; Crescioli, G.; Lombardi, N.; Bonaiuti, R.; Arico, M.; Giglio, S.; Messeri, A.; Mugelli, A.; Vannacci, A.; Maggini, V.; Lombardi, Niccolo'
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells
2020-01-01 Peired, Aj; Antonelli, G; Angelotti, Ml; Allinovi, M; Guzzi, F; Sisti, A; Semeraro, R; Conte, C; Mazzinghi, B; Nardi, S; Melica, Me; De Chiara, L; Lazzeri, E; Lasagni, L; Lottini, T; Landini, S; Giglio, S; Mari, A; Di Maida, F; Antonelli, A; Porpiglia, F; Schiavina, R; Ficarra, V; Facchiano, D; Gacci, M; Serni, S; Carini, M; Netto, Gj; Roperto, Rm; Magi, A; Christiansen, Cf; Rotondi, M; Liapis, H; Anders, Hj; Minervini, A; Raspollini, Mr; Romagnani, P.
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
1998-01-01 B., Pirola; L., Bortotto; Giglio, SABRINA RITA; E., Piovan; A., Janes; Guerrini, Renzo; O., Zuffardi
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.
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome
2020-01-01 Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12
2000-01-01 Bardoni, B; Giglio, SABRINA RITA; Schenck, A; Rocchi, M; Mandel, J. L.
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
1997-01-01 M., Piantanida; C., Dellavecchia; G., Floridia; Giglio, SABRINA RITA; H., Hoeller; B., Dordi; C., Danesino; A., Schinzel; O., Zuffardi
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
2018-01-01 Sticchi, Elena; De Cario, Rosina; Magi, Alberto; Giglio, Sabrina; Provenzano, Aldesia; Nistri, Stefano; Pepe, Guglielmina; Giusti, Betti
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
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients | 1-gen-2007 | Ballarati, L; Rossi, E; Bonati, Mt; Gimelli, S; Maraschio, P; Finelli, P; Giglio, SABRINA RITA; Lapi, E; Bedeschi, Mf; Guerneri, S; Arrigo, G; Patricelli, Mg; Mattina, T; Guzzardi, O; Pecile, V; Police, A; Scarano, G; Larizza, L; Zuffardi, O; Giardino, D. | JOURNAL OF MEDICAL GENETICS | - |
| 6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome? | 1-gen-2007 | Andreucci, E; Toni S. Ciccone R., De Gregori M; Giunti, L; Sani, I; Guarducci, ; S., Genuardi M; Zuffardi, O; Giglio, SABRINA RITA | CHROMOSOME RESEARCH | - |
| 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia | 1-gen-2005 | Elena, Rossi; Manuela de, Gregori; Maria Grazia, Patricelli; Tiziano, Pramparo; Luisa, Argentiero; Giglio, SABRINA RITA; Katiuscia, Sosta; Giovanni, Foresti; Orsetta, Zuffardi | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| A de novo 2q interstitial deletion in a patient with a Turner phenotype | 1-gen-2007 | Giglio, SABRINA RITA; Andreucci, Elena; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, Salvatore; Genuardi, ; O. Zuffardi, M. Genuardi; O., Zuffardi | CHROMOSOME RESEARCH | - |
| A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation | 1-gen-2019 | Giunti, Laura; Da Ros, Martina; De Gregorio, Veronica; Magi, Alberto; Landini, Samuela; Mazzinghi, Benedetta; Buccoliero, Anna Maria; Genitori, Lorenzo; Giglio, Sabrina; Sardi, Iacopo | MOLECULAR AND CLINICAL ONCOLOGY | - |
| 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 | - |
| A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere | 1-gen-1998 | Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Munn, S; Mazzarella, R; Rao, E; Giglio, SABRINA RITA; Rappold, G; Forabosco, A. | HUMAN MOLECULAR GENETICS | - |
| A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions | 1-gen-2021 | Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R. | GENES | - |
| A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia | 1-gen-2021 | Guazzarotti, Laura; Sani, Ilaria; Giglio, SABRINA RITA; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata | CLINICAL GENETICS | - |
| A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population | 1-gen-2022 | Mocci, Stefano; Littera, Roberto; Tranquilli, Stefania; Provenzano, Aldesia; Mascia, Alessia; Cannas, Federica; Lai, Sara; Giuressi, Erika; Chessa, Luchino; Angioni, Goffredo; Campagna, Marcello; Firinu, Davide; DEL ZOMPO, Maria; LA NASA, Giorgio; Perra, Andrea; Giglio, SABRINA RITA | FRONTIERS IN IMMUNOLOGY | - |
| 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 | - |
| A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study | 1-gen-2018 | Lucenteforte, E.; Vagnoli, L.; Pugi, A.; Crescioli, G.; Lombardi, N.; Bonaiuti, R.; Arico, M.; Giglio, S.; Messeri, A.; Mugelli, A.; Vannacci, A.; Maggini, V.; Lombardi, Niccolo' | BMC CANCER | - |
| Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells | 1-gen-2020 | Peired, Aj; Antonelli, G; Angelotti, Ml; Allinovi, M; Guzzi, F; Sisti, A; Semeraro, R; Conte, C; Mazzinghi, B; Nardi, S; Melica, Me; De Chiara, L; Lazzeri, E; Lasagni, L; Lottini, T; Landini, S; Giglio, S; Mari, A; Di Maida, F; Antonelli, A; Porpiglia, F; Schiavina, R; Ficarra, V; Facchiano, D; Gacci, M; Serni, S; Carini, M; Netto, Gj; Roperto, Rm; Magi, A; Christiansen, Cf; Rotondi, M; Liapis, H; Anders, Hj; Minervini, A; Raspollini, Mr; Romagnani, P. | SCIENCE TRANSLATIONAL MEDICINE | - |
| Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 | 1-gen-1998 | B., Pirola; L., Bortotto; Giglio, SABRINA RITA; E., Piovan; A., Janes; Guerrini, Renzo; O., Zuffardi | JOURNAL OF MEDICAL GENETICS | - |
| 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 | - |
| Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome | 1-gen-2020 | Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara | JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS | - |
| Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 | 1-gen-2000 | Bardoni, B; Giglio, SABRINA RITA; Schenck, A; Rocchi, M; Mandel, J. L. | CYTOGENETICS AND CELL GENETICS | - |
| Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? | 1-gen-1997 | M., Piantanida; C., Dellavecchia; G., Floridia; Giglio, SABRINA RITA; H., Hoeller; B., Dordi; C., Danesino; A., Schinzel; O., Zuffardi | HUMAN GENETICS | - |
| Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype | 1-gen-2018 | Sticchi, Elena; De Cario, Rosina; Magi, Alberto; Giglio, Sabrina; Provenzano, Aldesia; Nistri, Stefano; Pepe, Guglielmina; Giusti, Betti | BIOMED RESEARCH INTERNATIONAL | - |
| 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 | - |