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
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
2018-01-01 Piccini, Barbara; Coviello, Caterina; Drovandi, Livia; Rosangela, Artuso; Monzali, Francesca; Casalini, Emilio; Giglio, Sabrina; Toni, Sonia; Dani, Carlo
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
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; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Clara Bonaglia, Maria; Zuffardi, Orsetta
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
2022-01-01 Provenzano, Aldesia; La Barbera, Andrea; Lai, Francesco; Perra, Andrea; Farina, Antonio; Cariati, Ettore; Zuffardi, Orsetta; Giglio, Sabrina
Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis
2021-01-01 Gasparri, M. L.; Di Micco, R.; Zuber, V.; Taghavi, K.; Bianchini, G.; Bellaminutti, S.; Meani, F.; Graffeo, R.; Candiani, M.; Mueller, M. D.; Papadia, A.; Gentilini, O. D.
Cardiac resynchronization therapy acutely improves ventricular-arterial coupling by reducing the arterial load: Assessment by pressure-volume loops
2015-01-01 Pieragnoli, Paolo; Perego Giovanni, Battista; Ricciardi, Giuseppe; Sacchi, S; Padeletti, Margherita; Michelucci, Antonio; Valsecchi, Sergio; Padeletti, Luigi
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.
Orientation-controlled conjugation of haloalkane dehalogenase fused homing peptides to multifunctional nanoparticles for the specific recognition of cancer cells
2013-01-01 Mazzucchelli, Serena; Colombo, Miriam; Verderio, Paolo; Rozek, E; Andreata, F; Galbiati, Elisabetta; Tortora, Paolo; Corsi, F; Prosperi, Davide
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
Automatic detection of end-diastolic and end-systolic frames in 2D echocardiography
2017-01-01 Zolgharni, Massoud; Negoita, Madalina; Dhutia Niti, M; Mielewczik, Michael; Manoharan, Karikaran; Sohaib S. M., Afzal; Finegold Judith, A; Sacchi, S; Cole Graham, D; Francis Darrel, P.
Assessment of Myocardial Contractility by SonR Sensor in Patients Undergoing Cardiac Resynchronization Therapy
2016-01-01 Sacchi, S; Perini Alessandro, Paoletti; Attanà, Paola; Grifoni, Gino; Chiostri, Marco; Ricciardi, Giuseppe; Pieragnoli, Paolo; Padeletti, ; Luigi,
SLMSuite: a suite of algorithms for segmenting genomic profiles
2017-01-01 Orlandini, Valerio; Provenzano, Aldesia; Giglio, Sabrina Rita; Magi, Alberto
Peptide binding to cleaved CD31 dampens ischemia/reperfusion-induced intestinal injury
2018-01-01 Hoang, Q. T.; Nuzzo, A.; Louedec, L.; Delbosc, S.; Andreata, F.; Khallou-Laschet, J.; Assadi, M.; Montravers, P.; Longrois, D.; Corcos, O.; Caligiuri, G.; Nicoletti, A.; Michel, J. -B.; Tran-Dinh, A.
Risk of heart failure progression in patients with reduced ejection fraction: mechanisms and therapeutic options
2020-01-01 Gronda, E; Vanoli, E; Sacchi, S; Grassi, G; Ambrosio, G; Napoli, C.
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 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; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata
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
Doppler assessment of aortic stenosis: A 25-operator study demonstrating why reading the peak velocity is superior to velocity time integral
2018-01-01 Sacchi, S; Dhutia Niti, M; Shun-Shin Matthew, J; Zolgharni, Massoud; Sutaria, Nilesh; Francis Darrel, P; Cole Graham, D.
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment
2021-01-01 Giglio, S.; Montini, G.; Trepiccione, F.; Gambaro, G.; Emma, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation | 1-gen-2018 | Piccini, Barbara; Coviello, Caterina; Drovandi, Livia; Rosangela, Artuso; Monzali, Francesca; Casalini, Emilio; Giglio, Sabrina; Toni, Sonia; Dani, Carlo | |
| 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 | |
| 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; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Clara Bonaglia, Maria; Zuffardi, Orsetta | |
| Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females | 1-gen-2022 | Provenzano, Aldesia; La Barbera, Andrea; Lai, Francesco; Perra, Andrea; Farina, Antonio; Cariati, Ettore; Zuffardi, Orsetta; Giglio, Sabrina | |
| Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis | 1-gen-2021 | Gasparri, M. L.; Di Micco, R.; Zuber, V.; Taghavi, K.; Bianchini, G.; Bellaminutti, S.; Meani, F.; Graffeo, R.; Candiani, M.; Mueller, M. D.; Papadia, A.; Gentilini, O. D. | |
| Cardiac resynchronization therapy acutely improves ventricular-arterial coupling by reducing the arterial load: Assessment by pressure-volume loops | 1-gen-2015 | Pieragnoli, Paolo; Perego Giovanni, Battista; Ricciardi, Giuseppe; Sacchi, S; Padeletti, Margherita; Michelucci, Antonio; Valsecchi, Sergio; Padeletti, Luigi | |
| 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. | |
| Orientation-controlled conjugation of haloalkane dehalogenase fused homing peptides to multifunctional nanoparticles for the specific recognition of cancer cells | 1-gen-2013 | Mazzucchelli, Serena; Colombo, Miriam; Verderio, Paolo; Rozek, E; Andreata, F; Galbiati, Elisabetta; Tortora, Paolo; Corsi, F; Prosperi, Davide | |
| 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 | |
| Automatic detection of end-diastolic and end-systolic frames in 2D echocardiography | 1-gen-2017 | Zolgharni, Massoud; Negoita, Madalina; Dhutia Niti, M; Mielewczik, Michael; Manoharan, Karikaran; Sohaib S. M., Afzal; Finegold Judith, A; Sacchi, S; Cole Graham, D; Francis Darrel, P. | |
| Assessment of Myocardial Contractility by SonR Sensor in Patients Undergoing Cardiac Resynchronization Therapy | 1-gen-2016 | Sacchi, S; Perini Alessandro, Paoletti; Attanà, Paola; Grifoni, Gino; Chiostri, Marco; Ricciardi, Giuseppe; Pieragnoli, Paolo; Padeletti, ; Luigi, | |
| SLMSuite: a suite of algorithms for segmenting genomic profiles | 1-gen-2017 | Orlandini, Valerio; Provenzano, Aldesia; Giglio, Sabrina Rita; Magi, Alberto | |
| Peptide binding to cleaved CD31 dampens ischemia/reperfusion-induced intestinal injury | 1-gen-2018 | Hoang, Q. T.; Nuzzo, A.; Louedec, L.; Delbosc, S.; Andreata, F.; Khallou-Laschet, J.; Assadi, M.; Montravers, P.; Longrois, D.; Corcos, O.; Caligiuri, G.; Nicoletti, A.; Michel, J. -B.; Tran-Dinh, A. | |
| Risk of heart failure progression in patients with reduced ejection fraction: mechanisms and therapeutic options | 1-gen-2020 | Gronda, E; Vanoli, E; Sacchi, S; Grassi, G; Ambrosio, G; Napoli, C. | |
| 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 | |
| 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; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata | |
| 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 | |
| Doppler assessment of aortic stenosis: A 25-operator study demonstrating why reading the peak velocity is superior to velocity time integral | 1-gen-2018 | Sacchi, S; Dhutia Niti, M; Shun-Shin Matthew, J; Zolgharni, Massoud; Sutaria, Nilesh; Francis Darrel, P; Cole Graham, D. | |
| Distal renal tubular acidosis: a systematic approach from diagnosis to treatment | 1-gen-2021 | Giglio, S.; Montini, G.; Trepiccione, F.; Gambaro, G.; Emma, F. |
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