VAISFELD, ALESSANDRO
VAISFELD, ALESSANDRO
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Ricercatori a tempo determinato
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
2024 Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.; Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
2024 Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Caterina; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
2024 Palombo F.; Vaisfeld A.; Tropeano V.C.; Ormanbekova D.; Bacchi I.; Fiorini C.; Peruzzi A.; Morandi L.; Liguori R.; Carelli V.; Rizzo G.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
2023 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Stefania; Novelli, Agnese; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, Teresa; Angeloni, Antonio; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, Adele; Costa, Simonetta; Porzi, Alessia; Panella, Mara; Ticci, Chiara; Daniotti, Marta; Sacchini, Michele; Boschi, Ilaria; Bertini, Enrico; Lanzone, Antonio; Lamarca, Giancarlo; Genuardi, Maurizio; Pane, Marika; Donati, Maria Alice; Mercuri, Eugenio; Tiziano, Francesco Danilo
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus
2022 Giuffrida M.G.; Goldoni M.; Genovesi M.L.; Carpentieri G.; Torres B.; Deac A.D.; Cecchetti S.; Martinelli A.; Vaisfeld A.; Flex E.; Bernardini L.
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
2022 Pane M.; Donati M.A.; Cutrona C.; De Sanctis R.; Pirinu M.; Coratti G.; Ricci M.; Palermo C.; Berti B.; Leone D.; Ticci C.; Sacchini M.; Cerboneschi M.; Capasso A.; Cicala G.; Pera M.C.; Bravetti C.; Abiusi E.; Vaisfeld A.; Vento G.; Tiziano F.D.; Mercuri E.
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights
2022 Vaisfeld A.; Taormina S.; Simonati A.; Neri G.
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma
2021 Vaisfeld A.; Spartano S.; Gobbi G.; Vezzani A.; Neri G.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
2021 Vaisfeld A.; Bruno G.; Petracca M.; Bentivoglio A.R.; Servidei S.; Vita M.G.; Bove F.; Straccia G.; Dato C.; Di Iorio G.; Sampaolo S.; Peluso S.; De Rosa A.; De Michele G.; Barghigiani M.; Galatolo D.; Tessa A.; Santorelli F.; Chiurazzi P.; Melone M.A.B.
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
2019 Vaisfeld A.; Calicchia M.; Pomponi M.G.; Lucci-Cordisco E.; Reggiani-Bonetti L.; Genuardi M.
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
2018 Marangi G.; Di Giacomo M.C.; Lattante S.; Orteschi D.; Patrizi S.; Doronzio P.N.; Riviello F.N.; Vaisfeld A.; Frangella S.; Zollino M.
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force
2017 Rinaldi B.; Vaisfeld A.; Amarri S.; Baldo C.; Gobbi G.; Magini P.; Melli E.; Neri G.; Novara F.; Pippucci T.; Rizzi R.; Soresina A.; Zampini L.; Zuffardi O.; Crimi M.
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue
2017 Vaisfeld A.; Pomponi M.G.; Pietrobono R.; Tabolacci E.; Neri G.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.;... Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E. | 2024-01-01 | NPJ GENOMIC MEDICINE | - | 1.01 Articolo in rivista | Viggiano_NPJGenMed24.pdf; 41525_2024_411_MOESM1_ESM_compressed (1).pdf |
| Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children | Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Cateri...na; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria | 2024-01-01 | ORPHANET JOURNAL OF RARE DISEASES | - | 1.01 Articolo in rivista | 13023_2024_Article_3065.pdf |
| Two more families supporting the existence of monogenic spinocerebellar ataxia 48 | Palombo F.; Vaisfeld A.; Tropeano V.C.; Ormanbekova D.; Bacchi I.; Fiorini C.; Peruzzi A.; Morand...i L.; Liguori R.; Carelli V.; Rizzo G. | 2024-01-01 | NEUROGENETICS | - | 1.01 Articolo in rivista | - |
| Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis | Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Stefania; Novelli, Agnese; Spartano, Serena; Faggi...ano, Maria Vittoria; Giovanniello, Teresa; Angeloni, Antonio; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, Adele; Costa, Simonetta; Porzi, Alessia; Panella, Mara; Ticci, Chiara; Daniotti, Marta; Sacchini, Michele; Boschi, Ilaria; Bertini, Enrico; Lanzone, Antonio; Lamarca, Giancarlo; Genuardi, Maurizio; Pane, Marika; Donati, Maria Alice; Mercuri, Eugenio; Tiziano, Francesco Danilo | 2023-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | - |
| 3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus | Giuffrida M.G.; Goldoni M.; Genovesi M.L.; Carpentieri G.; Torres B.; Deac A.D.; Cecchetti S.; Ma...rtinelli A.; Vaisfeld A.; Flex E.; Bernardini L. | 2022-01-01 | DIAGNOSTICS | - | 1.01 Articolo in rivista | diagnostics-12-02354.pdf |
| Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening | Pane M.; Donati M.A.; Cutrona C.; De Sanctis R.; Pirinu M.; Coratti G.; Ricci M.; Palermo C.; Ber...ti B.; Leone D.; Ticci C.; Sacchini M.; Cerboneschi M.; Capasso A.; Cicala G.; Pera M.C.; Bravetti C.; Abiusi E.; Vaisfeld A.; Vento G.; Tiziano F.D.; Mercuri E. | 2022-01-01 | EUROPEAN JOURNAL OF PEDIATRICS | - | 1.01 Articolo in rivista | 431_2022_Article_4470.pdf; 431_2022_4470_MOESM1_ESM.jpg |
| Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights | Vaisfeld A.; Taormina S.; Simonati A.; Neri G. | 2022-01-01 | GENES | - | 1.01 Articolo in rivista | genes-13-01792.pdf |
| Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma | Vaisfeld A.; Spartano S.; Gobbi G.; Vezzani A.; Neri G. | 2021-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | draft_Proof_Ring14_2020.pdf |
| Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement | Vaisfeld A.; Bruno G.; Petracca M.; Bentivoglio A.R.; Servidei S.; Vita M.G.; Bove F.; Straccia G....; Dato C.; Di Iorio G.; Sampaolo S.; Peluso S.; De Rosa A.; De Michele G.; Barghigiani M.; Galatolo D.; Tessa A.; Santorelli F.; Chiurazzi P.; Melone M.A.B. | 2021-01-01 | GENES | - | 1.01 Articolo in rivista | genes-12-00344.pdf |
| Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? | Vaisfeld A.; Calicchia M.; Pomponi M.G.; Lucci-Cordisco E.; Reggiani-Bonetti L.; Genuardi M. | 2019-01-01 | FAMILIAL CANCER | - | 1.01 Articolo in rivista | - |
| A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders | Marangi G.; Di Giacomo M.C.; Lattante S.; Orteschi D.; Patrizi S.; Doronzio P.N.; Riviello F.N.; ...Vaisfeld A.; Frangella S.; Zollino M. | 2018-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force | Rinaldi B.; Vaisfeld A.; Amarri S.; Baldo C.; Gobbi G.; Magini P.; Melli E.; Neri G.; Novara F.; ...Pippucci T.; Rizzi R.; Soresina A.; Zampini L.; Zuffardi O.; Crimi M. | 2017-01-01 | ORPHANET JOURNAL OF RARE DISEASES | - | 1.01 Articolo in rivista | - |
| Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue | Vaisfeld A.; Pomponi M.G.; Pietrobono R.; Tabolacci E.; Neri G. | 2017-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |