Sfoglia per Autore
Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
2015-01-01 Caciotti, A; Tonin, Rodolfo; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, Ma; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Rocco, Md; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, Sd; Li, B; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, SABRINA RITA; Guerrini, Renzo; Parini, R; Morrone, Amelia
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
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
2015-01-01 L., Guazzarotti; G., Tadini; G. E., Mancini; Giglio, SABRINA RITA; C. E., Willoughby; M., Callea; I., Sani; P., Nannini; C., Mameli; A. A., Tenconi; S., Mauri; A., Bottero; A., Caimi; M., Morelli; G. V., Zuccotti
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
2015-01-01 M., Callea; C., Willoughby; P., Nieminen; M., Di Stazio; E., Bellacchio; Giglio, SABRINA RITA; I., Sani; A., Vinciguerra; M., Maglione; G., Tadini; G., Clarich
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
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.
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
2015-01-01 Vetro, Annalisa; Reza Dehghani, Mohammad; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada-Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, SABRINA RITA; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Clara Bonaglia, Maria; Zuffardi, Orsetta
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene
2015-01-01 Artuso, R; Provenzano, Aldesia; Mazzinghi, B; Palazzo, Viviana; Romano, S; Stagi, Stefano; Giglio, SABRINA RITA
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression
2015-01-01 Giglio, SABRINA RITA; Provenzano, Aldesia; Mazzinghi, Benedetta; Becherucci, Francesca; Giunti, Laura; Sansavini, Giulia; Ravaglia, Fiammetta; Roperto, Rosa Maria; Farsetti, Silvia; Benetti, Elisa; Rotondi, Mario; Murer, Luisa; Lazzeri, Elena; Lasagni, Laura; Materassi, Marco; Romagnani, Paola
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
Determinants of vitamin D levels in children and adolescents with Down syndrome
2015-01-01 Stagi, S; Lapi, E; Romano, S; Bargiacchi, S; Brambilla, A; Giglio, SABRINA RITA; Seminara, Salvatore; DE MARTINO, Maurizio
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders
2015-01-01 Lazzeri, Elena; Ronconi, Elisa; Angelotti, MARIA LUCIA; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M.; Giglio, SABRINA RITA; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura; Romagnani, Paola
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3gene
2015-01-01 Valerio, Conti; Marilena, Pantaleo; Carmen, Barba; Gianna, Baroni; Davide, Mei; Anna Maria, Buccoliero; Giglio, SABRINA RITA; Flavio, Giordano; Seung Tae, Baek; Joseph G., Gleeson; Guerrini, Renzo
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany
2015-01-01 Seravalli, Viola; Pierini, A; Bianchi, F; Giglio, SABRINA RITA; Vellucci, Fl; Cariati, E.
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; Giglio, SABRINA RITA; Lasagni, Laura; Romagnani, Paola
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments
2014-01-01 Aldesia, Provenzano; Mazzinghi, B.; Becherucci, F.; Giunti, L.; Sansavini, G.; Ravaglia, F.; Roperto, R.; Farsetti, S.; Benetti, E.; Rotondi, M.; Murer, L.; Lasagni, L.; Materassi, M.; Romagnani, P.; Giglio, S.
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease
2014-01-01 Viviana, Palazzo; Aldesia, Provenzano; La Barbera, A.; Andreucci, E.; Mazzinghi, B.; Pantaleo, M.; Caruso, M.; Garavelli, L.; Gambaro, G.; Materassi, M.; Romagnani, P.; Giglio, S.
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme
2014-01-01 Giunti, L.; Aldesia, Provenzano; Artuso, R.; Mazzinghi, B.; Sardi, I.; Cardellicchio, S.; Buccoliero, A.; Castiglione, F.; Genitori, L.; de Martino, M.; Giglio, S.
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.
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome
2014-01-01 Stefano, Stagi; Elisabetta, Lapi; Maria Gabriella, D’Avanzo; Giancarlo, Perferi; Silvia, Romano; Giglio, SABRINA RITA; Silvia, Ricci; Azzari, Chiara; Francesco, Chiarelli; Seminara, Salvatore; DE MARTINO, Maurizio
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations | 1-gen-2015 | Caciotti, A; Tonin, Rodolfo; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, Ma; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Rocco, Md; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, Sd; Li, B; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, SABRINA RITA; Guerrini, Renzo; Parini, R; Morrone, Amelia | HUMAN MUTATION | - |
| 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 | - |
| Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia | 1-gen-2015 | L., Guazzarotti; G., Tadini; G. E., Mancini; Giglio, SABRINA RITA; C. E., Willoughby; M., Callea; I., Sani; P., Nannini; C., Mameli; A. A., Tenconi; S., Mauri; A., Bottero; A., Caimi; M., Morelli; G. V., Zuccotti | CLINICAL GENETICS | - |
| Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia | 1-gen-2015 | M., Callea; C., Willoughby; P., Nieminen; M., Di Stazio; E., Bellacchio; Giglio, SABRINA RITA; I., Sani; A., Vinciguerra; M., Maglione; G., Tadini; G., Clarich | JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | - |
| 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 | - |
| 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 | - |
| Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 | 1-gen-2015 | Vetro, Annalisa; Reza Dehghani, Mohammad; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada-Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, SABRINA RITA; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Clara Bonaglia, Maria; Zuffardi, Orsetta | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene | 1-gen-2015 | Artuso, R; Provenzano, Aldesia; Mazzinghi, B; Palazzo, Viviana; Romano, S; Stagi, Stefano; Giglio, SABRINA RITA | DIABETES | - |
| Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression | 1-gen-2015 | Giglio, SABRINA RITA; Provenzano, Aldesia; Mazzinghi, Benedetta; Becherucci, Francesca; Giunti, Laura; Sansavini, Giulia; Ravaglia, Fiammetta; Roperto, Rosa Maria; Farsetti, Silvia; Benetti, Elisa; Rotondi, Mario; Murer, Luisa; Lazzeri, Elena; Lasagni, Laura; Materassi, Marco; Romagnani, Paola | JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | - |
| 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 | - |
| Determinants of vitamin D levels in children and adolescents with Down syndrome | 1-gen-2015 | Stagi, S; Lapi, E; Romano, S; Bargiacchi, S; Brambilla, A; Giglio, SABRINA RITA; Seminara, Salvatore; DE MARTINO, Maurizio | INTERNATIONAL JOURNAL OF ENDOCRINOLOGY | - |
| Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders | 1-gen-2015 | Lazzeri, Elena; Ronconi, Elisa; Angelotti, MARIA LUCIA; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M.; Giglio, SABRINA RITA; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura; Romagnani, Paola | JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | - |
| Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3gene | 1-gen-2015 | Valerio, Conti; Marilena, Pantaleo; Carmen, Barba; Gianna, Baroni; Davide, Mei; Anna Maria, Buccoliero; Giglio, SABRINA RITA; Flavio, Giordano; Seung Tae, Baek; Joseph G., Gleeson; Guerrini, Renzo | CLINICAL GENETICS | - |
| Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany | 1-gen-2015 | Seravalli, Viola; Pierini, A; Bianchi, F; Giglio, SABRINA RITA; Vellucci, Fl; Cariati, E. | THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | - |
| 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; Giglio, SABRINA RITA; Lasagni, Laura; Romagnani, Paola | PEDIATRIC NEPHROLOGY | - |
| High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments | 1-gen-2014 | Aldesia, Provenzano; Mazzinghi, B.; Becherucci, F.; Giunti, L.; Sansavini, G.; Ravaglia, F.; Roperto, R.; Farsetti, S.; Benetti, E.; Rotondi, M.; Murer, L.; Lasagni, L.; Materassi, M.; Romagnani, P.; Giglio, S. | - | NATURE PUBLISHING GROUP, 345 PARK AVENUE SOUTH, NEW YORK, USA, NY, 10010-1707 |
| The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease | 1-gen-2014 | Viviana, Palazzo; Aldesia, Provenzano; La Barbera, A.; Andreucci, E.; Mazzinghi, B.; Pantaleo, M.; Caruso, M.; Garavelli, L.; Gambaro, G.; Materassi, M.; Romagnani, P.; Giglio, S. | - | attuale: NATURE PUBLISHING GROUP, 345 PARK AVENUE SOUTH, NEW YORK, USA, NY, 10010-1707 |
| Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme | 1-gen-2014 | Giunti, L.; Aldesia, Provenzano; Artuso, R.; Mazzinghi, B.; Sardi, I.; Cardellicchio, S.; Buccoliero, A.; Castiglione, F.; Genitori, L.; de Martino, M.; Giglio, S. | - | Nature Publishing Group |
| 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 |
| Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome | 1-gen-2014 | Stefano, Stagi; Elisabetta, Lapi; Maria Gabriella, D’Avanzo; Giancarlo, Perferi; Silvia, Romano; Giglio, SABRINA RITA; Silvia, Ricci; Azzari, Chiara; Francesco, Chiarelli; Seminara, Salvatore; DE MARTINO, Maurizio | BMC MEDICAL GENETICS | - |
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