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
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
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes
2014-01-01 Forte, G; Grossi, V; Celestini, V; Lucisano, G; Scardapane, M; Varvara, D; Patruno, M; Bagnulo, R; Loconte, D; Giunti, L; Petracca, A; Giglio, SABRINA RITA; Genuardi, M; Pellegrini, F; Resta, N; Simone, C.
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
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
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.
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
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
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells
2012-01-01 Vultaggio, A; Matucci, A; D'Elios, Mm; Andreucci, E; Giglio, S; Annunziato, F; Zupo, S; Maggi, E
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME
2011-01-01 Aldesia, Provenzano; Tesi, B.; Mazzinghi, B.; Contini, E.; Cetica, V.; Mei, D.; Lavoratti, G.; Materassi, M.; Romagnani, P.; Giglio, S.
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE
2011-01-01 Mazzinghi, B.; Aldesia, Provenzano; Tesi, B.; Pantaleo, M.; Andreucci, E.; Pela, I.; Genuardi, M.; Giglio, S.
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE
2011-01-01 Provenzano, Aldesia; Tesi, B.; Mazzinghi, B.; Contini, E.; Cetica, V.; Lavoratti, G.; Materassi, M.; Romagnani, P.; Giglio, S.
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis
2011-01-01 Pela, Ivana; Provenzano, Aldesia; Giglio, SABRINA RITA
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome
2011-01-01 Bonaglia, Mc.; Giorda, R; Beri, S; De Agostini, C; Novara, F; Fichera, M; Grillo, L; Galesi, O; Vetro, A; Ciccone, R; Maria Bonati, T; Giglio, S; Guerrini, R; Osimani, S; Marelli, S; Zucca, C; Grasso, R; Borgatti, R; Mani, E; Motta, C; Molteni, M; Romano, C; Greco, D; Reitano, S; Baroncini, A; Lapi, E; Cecconi, A; Arrigo, G; Patricelli, Mg; Pantaleoni, C; D'Arrigo, S; Daria, R; Sciacca, F; Dalla Bernardina, B; Zoccante, L; Darra, F; Termine, C; Maserati, E; Bigoni, S; Priolo, E; Bottani, A; Gimelli, S; Bena, F; Brusco, A; di Gregorio, E; Bagnasco, I; Giussani, U; Nitsch, L; Politi, P; Martinez-Frias, Ml; Martínez-Fernández, Ml; Martínez Guardia, N; Bremer, A; Anderlid, B-M; Zuffardi, O
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations
2011-01-01 Maffé, A; Toschi, B; Circo, G; Giachino, D; Giglio, SABRINA RITA; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, M.
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
2011-01-01 Bedeschi, M. F.; V., Bianchi; B., Gentilin; L., Colombo; F., Natacci; Giglio, SABRINA RITA; E., Andreucci; L., Trespidi; B., Acaia; Furga, A. S.; F., Lalatta
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
2011-01-01 Parrini, E; Rivas, Il; Toral, Jf; Pucatti, D; Giglio, SABRINA RITA; Mei, D; Guerrini, Renzo
Reply-MSK and dRTA: a puzzling association
2011-01-01 Giglio, SABRINA RITA; Pela, Ivana
Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene
2010-01-01 Giglio, SABRINA RITA; Contini, Elisa; Toni, Sonia; Pela, Ivana; Elisa, Contini
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE
2009-01-01 Aldesia, Provenzano; Contini, E.; Ercolino, T.; Ciccone, R.; Bianchi, B.; Andreucci, E.; Guarducci, S.; Caruso, M. R.; Genuardi, M.; Zuffardi, O.; Pela, I.; Giglio, S.
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY
2009-01-01 Contini, E.; Toni, S.; Ciccone, R.; Lenzi, L.; Aldesia, Provenzano; Guasti, M.; D'Elia, I.; Lucchesi, S.; Rossi, A.; Calcaterra, V.; Larizza, D.; Viscardi, M.; Giunti, L.; Zuffardi, O.; Giglio, S.
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity
2009-01-01 Andreucci, E; Bianchi, B; Carboni, I; Lavoratti, G; Mortilla, M; Fonda, C; Bigozzi, M; Genuardi, M; Giglio, SABRINA RITA; Pela, I.
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
2009-01-01 Cardoso, C; Boys, A; Parrini, E; Mignon Ravix, C; Mcmahon, Jm; Khantane, S; Bertini, E; Pallesi, E; Missirian, C; Zuffardi, O; Novara, F; Villard, L; Giglio, SABRINA RITA; Chabrol, B; Slater, Hr; Moncla, A; Scheffer, Ie; Guerrini, Renzo
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
2009-01-01 L., Giunti; V., Cetica; U., Ricci; Giglio, SABRINA RITA; I., Sardi; M., Paglierani; E., Andreucci; M., Sanzo; M., Forni; Buccoliero, A. M.; L., Genitori; M., Genuardi
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes
2009-01-01 I., Carboni; E., Andreucci; M. R., Caruso; R., Ciccone; O., Zuffardi; M., Genuardi; I., Pela; Giglio, SABRINA RITA
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia?
2008-01-01 Tucci, F; Giunti, L; Gambineri, Eleonora; Tondo, A; Giglio, SABRINA RITA; Sainati, L; Arico, M.
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2
2007-01-01 Nanni, L; Giglio, S; Stagi, S; Andreucci, E; Galluzzi, F; Seminara, S
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.
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
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
2007-01-01 Giorda, R; Ciccone, R; Gimelli, G; Pramparo, T; Beri, S; Bonaglia, Mc; Giglio, SABRINA RITA; Genuardi, M; Argente, J; Rocchi, M; Zuffardi, O.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
2007-01-01 De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, SABRINA RITA; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O.
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
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies
2007-01-01 Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, SABRINA RITA; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M.
Inversion Chromosomes
2006-01-01 Zuffardi, O; Ciccone, R; Giglio, S; Pramparo, T
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
Mosaic variegated aneuploidy: two new cases including a prenatal one
2005-01-01 Arrigo, G; Gimelli, S; Illekova, Z; Giglio, S; Zuffardi, O
Reciprocal translocations: a trap for cytogenetists?
2005-01-01 Ciccone, R; Giorda, R; Gregato, G; Guerrini, R; Giglio, SABRINA RITA; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, O; Rossi, E.
Inverted duplications: how many of them are mosaic?
2004-01-01 Pramparo, T; Giglio, SABRINA RITA; Gregato, G; DE GREGORI, M; GRAZIA PATRICELLI, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O.
Title | Issue Date | Author(s) | Journal | Publisher |
---|---|---|---|---|
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency | 1-Jan-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-Jan-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-Jan-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-Jan-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-Jan-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-Jan-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-Jan-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 | - |
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome | 1-Jan-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 | - |
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes | 1-Jan-2014 | Forte, G; Grossi, V; Celestini, V; Lucisano, G; Scardapane, M; Varvara, D; Patruno, M; Bagnulo, R; Loconte, D; Giunti, L; Petracca, A; Giglio, SABRINA RITA; Genuardi, M; Pellegrini, F; Resta, N; Simone, C. | BMC CANCER | - |
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS | 1-Jan-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 | - |
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis | 1-Jan-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-Jan-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-Jan-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-Jan-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-Jan-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 | - |
Expression of β-adrenergic receptors in pediatric malignant brain tumors | 1-Jan-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 | - |
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency | 1-Jan-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 | - |
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome | 1-Jan-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-Jan-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-Jan-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 | - |
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells | 1-Jan-2012 | Vultaggio, A; Matucci, A; D'Elios, Mm; Andreucci, E; Giglio, S; Annunziato, F; Zupo, S; Maggi, E | INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY | - |
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME | 1-Jan-2011 | Aldesia, Provenzano; Tesi, B.; Mazzinghi, B.; Contini, E.; Cetica, V.; Mei, D.; Lavoratti, G.; Materassi, M.; Romagnani, P.; Giglio, S. | - | university of Bari |
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE | 1-Jan-2011 | Mazzinghi, B.; Aldesia, Provenzano; Tesi, B.; Pantaleo, M.; Andreucci, E.; Pela, I.; Genuardi, M.; Giglio, S. | - | Biomedia |
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE | 1-Jan-2011 | Provenzano, Aldesia; Tesi, B.; Mazzinghi, B.; Contini, E.; Cetica, V.; Lavoratti, G.; Materassi, M.; Romagnani, P.; Giglio, S. | - | Biomedia |
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis | 1-Jan-2011 | Pela, Ivana; Provenzano, Aldesia; Giglio, SABRINA RITA | PEDIATRIC NEPHROLOGY | - |
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome | 1-Jan-2011 | Bonaglia, Mc.; Giorda, R; Beri, S; De Agostini, C; Novara, F; Fichera, M; Grillo, L; Galesi, O; Vetro, A; Ciccone, R; Maria Bonati, T; Giglio, S; Guerrini, R; Osimani, S; Marelli, S; Zucca, C; Grasso, R; Borgatti, R; Mani, E; Motta, C; Molteni, M; Romano, C; Greco, D; Reitano, S; Baroncini, A; Lapi, E; Cecconi, A; Arrigo, G; Patricelli, Mg; Pantaleoni, C; D'Arrigo, S; Daria, R; Sciacca, F; Dalla Bernardina, B; Zoccante, L; Darra, F; Termine, C; Maserati, E; Bigoni, S; Priolo, E; Bottani, A; Gimelli, S; Bena, F; Brusco, A; di Gregorio, E; Bagnasco, I; Giussani, U; Nitsch, L; Politi, P; Martinez-Frias, Ml; Martínez-Fernández, Ml; Martínez Guardia, N; Bremer, A; Anderlid, B-M; Zuffardi, O | PLOS GENETICS | - |
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations | 1-Jan-2011 | Maffé, A; Toschi, B; Circo, G; Giachino, D; Giglio, SABRINA RITA; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, M. | CLINICAL GENETICS | - |
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report | 1-Jan-2011 | Bedeschi, M. F.; V., Bianchi; B., Gentilin; L., Colombo; F., Natacci; Giglio, SABRINA RITA; E., Andreucci; L., Trespidi; B., Acaia; Furga, A. S.; F., Lalatta | ORPHANET JOURNAL OF RARE DISEASES | - |
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males | 1-Jan-2011 | Parrini, E; Rivas, Il; Toral, Jf; Pucatti, D; Giglio, SABRINA RITA; Mei, D; Guerrini, Renzo | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |
Reply-MSK and dRTA: a puzzling association | 1-Jan-2011 | Giglio, SABRINA RITA; Pela, Ivana | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene | 1-Jan-2010 | Giglio, SABRINA RITA; Contini, Elisa; Toni, Sonia; Pela, Ivana; Elisa, Contini | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE | 1-Jan-2009 | Aldesia, Provenzano; Contini, E.; Ercolino, T.; Ciccone, R.; Bianchi, B.; Andreucci, E.; Guarducci, S.; Caruso, M. R.; Genuardi, M.; Zuffardi, O.; Pela, I.; Giglio, S. | - | Biomedia |
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY | 1-Jan-2009 | Contini, E.; Toni, S.; Ciccone, R.; Lenzi, L.; Aldesia, Provenzano; Guasti, M.; D'Elia, I.; Lucchesi, S.; Rossi, A.; Calcaterra, V.; Larizza, D.; Viscardi, M.; Giunti, L.; Zuffardi, O.; Giglio, S. | - | Biomedia |
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity | 1-Jan-2009 | Andreucci, E; Bianchi, B; Carboni, I; Lavoratti, G; Mortilla, M; Fonda, C; Bigozzi, M; Genuardi, M; Giglio, SABRINA RITA; Pela, I. | PEDIATRIC NEPHROLOGY | - |
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion | 1-Jan-2009 | Cardoso, C; Boys, A; Parrini, E; Mignon Ravix, C; Mcmahon, Jm; Khantane, S; Bertini, E; Pallesi, E; Missirian, C; Zuffardi, O; Novara, F; Villard, L; Giglio, SABRINA RITA; Chabrol, B; Slater, Hr; Moncla, A; Scheffer, Ie; Guerrini, Renzo | NEUROLOGY | - |
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome | 1-Jan-2009 | L., Giunti; V., Cetica; U., Ricci; Giglio, SABRINA RITA; I., Sardi; M., Paglierani; E., Andreucci; M., Sanzo; M., Forni; Buccoliero, A. M.; L., Genitori; M., Genuardi | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes | 1-Jan-2009 | I., Carboni; E., Andreucci; M. R., Caruso; R., Ciccone; O., Zuffardi; M., Genuardi; I., Pela; Giglio, SABRINA RITA | NEPHROLOGY DIALYSIS TRANSPLANTATION | - |
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? | 1-Jan-2008 | Tucci, F; Giunti, L; Gambineri, Eleonora; Tondo, A; Giglio, SABRINA RITA; Sainati, L; Arico, M. | HAEMATOLOGICA | - |
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 | 1-Jan-2007 | Nanni, L; Giglio, S; Stagi, S; Andreucci, E; Galluzzi, F; Seminara, S | - | Mattioli 1885 SpA |
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients | 1-Jan-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 | - |
A de novo 2q interstitial deletion in a patient with a Turner phenotype | 1-Jan-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 | - |
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 | 1-Jan-2007 | Giorda, R; Ciccone, R; Gimelli, G; Pramparo, T; Beri, S; Bonaglia, Mc; Giglio, SABRINA RITA; Genuardi, M; Argente, J; Rocchi, M; Zuffardi, O. | HUMAN MUTATION | - |
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients | 1-Jan-2007 | De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, SABRINA RITA; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O. | JOURNAL OF MEDICAL GENETICS | - |
6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome? | 1-Jan-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 | - |
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies | 1-Jan-2007 | Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, SABRINA RITA; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M. | JOURNAL OF MEDICAL GENETICS | - |
Inversion Chromosomes | 1-Jan-2006 | Zuffardi, O; Ciccone, R; Giglio, S; Pramparo, T | - | Humana Press |
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia | 1-Jan-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 | - |
Mosaic variegated aneuploidy: two new cases including a prenatal one | 1-Jan-2005 | Arrigo, G; Gimelli, S; Illekova, Z; Giglio, S; Zuffardi, O | CHROMOSOME RESEARCH | - |
Reciprocal translocations: a trap for cytogenetists? | 1-Jan-2005 | Ciccone, R; Giorda, R; Gregato, G; Guerrini, R; Giglio, SABRINA RITA; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, O; Rossi, E. | HUMAN GENETICS | - |
Inverted duplications: how many of them are mosaic? | 1-Jan-2004 | Pramparo, T; Giglio, SABRINA RITA; Gregato, G; DE GREGORI, M; GRAZIA PATRICELLI, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O. | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
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