Sfoglia per Autore
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
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins
2017-01-01 Murro, V.; Caputo, R.; Bacci, G. M.; Sodi, A.; Mucciolo, D. P.; Bargiacchi, S.; Giglio, S. R.; Virgili, Gianni; Rizzo, Stanislao
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
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
SLMSuite: a suite of algorithms for segmenting genomic profiles
2017-01-01 Orlandini, Valerio; Provenzano, Aldesia; Giglio, SABRINA RITA; Magi, Alberto
MICRORNAS PROFILE IN PAEDIATRIC GBMS
2017-01-01 Giunti, Laura; Da Ros, Martina; Iorio, Anna Lisa; Magi, Alberto; Mazzinghi, Benedetta; Giglio, Sabrina; Sardi, Iacopo
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay
2017-01-01 Polimanti, Renato; Squitti, Rosanna; Pantaleo, Marilena; Giglio, SABRINA RITA; Zito, Giancarlo
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
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
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
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
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
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
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.
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
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
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
2015-01-01 De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Béna, Frédérique; Bockaert, Nele; Bongers, Ernie M.; de Ravel, Thomy; Devriendt, Koenraad; Giglio, SABRINA RITA; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J. M.; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tümer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E.; Kleefstra, Tjitske; Menten, Björn
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication
2015-01-01 Ottaviani, V; Bartocci, A; Pantaleo, M; Giglio, SABRINA RITA; Cecconi, Massimiliano; Verrotti, A; Merla, G; Stangoni, G; Prontera, P.
HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5)
2015-01-01 Cetica, V; Sieni, E; Ciambotti, B; Coniglio, Ml; Da Ros, M; Rizzari, C; Biondi, A; Pantaleo, M; Giglio, SABRINA RITA; Grieve, S; Griffiths, G; Arico, M.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| 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 | - |
| Case report of an atypical early onset X-linked retinoschisis in monozygotic twins | 1-gen-2017 | Murro, V.; Caputo, R.; Bacci, G. M.; Sodi, A.; Mucciolo, D. P.; Bargiacchi, S.; Giglio, S. R.; Virgili, Gianni; Rizzo, Stanislao | BMC OPHTHALMOLOGY | - |
| 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 | - |
| 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 | - |
| SLMSuite: a suite of algorithms for segmenting genomic profiles | 1-gen-2017 | Orlandini, Valerio; Provenzano, Aldesia; Giglio, SABRINA RITA; Magi, Alberto | BMC BIOINFORMATICS | - |
| MICRORNAS PROFILE IN PAEDIATRIC GBMS | 1-gen-2017 | Giunti, Laura; Da Ros, Martina; Iorio, Anna Lisa; Magi, Alberto; Mazzinghi, Benedetta; Giglio, Sabrina; Sardi, Iacopo | NEURO-ONCOLOGY | - |
| Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay | 1-gen-2017 | Polimanti, Renato; Squitti, Rosanna; Pantaleo, Marilena; Giglio, SABRINA RITA; Zito, Giancarlo | MINERVA PEDIATRICA | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity | 1-gen-2015 | De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Béna, Frédérique; Bockaert, Nele; Bongers, Ernie M.; de Ravel, Thomy; Devriendt, Koenraad; Giglio, SABRINA RITA; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J. M.; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tümer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E.; Kleefstra, Tjitske; Menten, Björn | GENETICS IN MEDICINE | - |
| Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication | 1-gen-2015 | Ottaviani, V; Bartocci, A; Pantaleo, M; Giglio, SABRINA RITA; Cecconi, Massimiliano; Verrotti, A; Merla, G; Stangoni, G; Prontera, P. | GENETIC COUNSELING | - |
| HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) | 1-gen-2015 | Cetica, V; Sieni, E; Ciambotti, B; Coniglio, Ml; Da Ros, M; Rizzari, C; Biondi, A; Pantaleo, M; Giglio, SABRINA RITA; Grieve, S; Griffiths, G; Arico, M. | PEDIATRIC BLOOD & CANCER | - |
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