نتائج البحث - "Vaisfeld, Alessandro"

1

دورية أكاديمية

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

المساهمون: 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

مصطلحات موضوعية: PKS

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38459574; info:eu-repo/semantics/altIdentifier/wos/WOS:001181281100002; volume:19; issue:1; firstpage:1; lastpage:15; numberofpages:15; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11585/966293Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187114083; https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03065-5Test

الإتاحة: https://doi.org/10.1186/s13023-024-03065-5Test
https://hdl.handle.net/11585/966293Test

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2

دورية أكاديمية

Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

المؤلفون: 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, Dani, Carlo, Agostiniani, Rino, Bertini, Enrico, Lanzone, Antonio, Lamarca, Giancarlo, Genuardi, Maurizio, Pane, Marika, Donati, Maria Alice, Mercuri, Eugenio, Tiziano, Francesco Danilo, on behalf of the Italian SMA-NBS group, Accardo, Maria, Gambi, Beatrice, Giampaoli, Simonetta, Ahmed, Ubah Farah, Giannini, Carlo, Alecci, Concetta, Giardini, Valerio, Amendolea, Antonella, Guarguagli, Monica, Bartolucci, Monica, Haass, Cristina, Belisario, Ivana, Innocenti, Isabella, Belluomini, Paola, Innocenti Berti, Maria Cristina, Bernardini, Claudia, Maggi, Claudia, Bernardini, Roberto, Magi, Letizia, Bertò, Luisa, Malorgio, Roccuccia, Bini, Rita, Maragliano, Giovanna, Bolgia, Leonardo, Maraglino, Vita, Boscioni, Mario, Marotta, Anna, Bracaglia, Giorgio, Martini, Cristina, Brachini, Elisa, Martufi, Palmina, Bruschi, Elisa, Mastropasqua, Stefania, Campa, Monica, Matera, Maria Rosaria, Caprilli, Monica, Memmini, Graziano, Carcione, Simona, Mendicino, Angela, Cardiello, Angelo, Mercurio, Sabrina, Cartolano, Francesco, Meucci, Alessandra, Casati, Alessandra, Milita, Osvaldo, Ceccarelli, Sandra, Morano, Zeudi, Chiellini, Marzia, Nardi, Eleonora, Ciccotti, Rossella, Novelli, Sandra, Cioli, Elena, Padovano, Luigi, Civitelli, Flavio, Palermo, Maria Gabriella, Colella, Maria Giovanna, Pascucci, Serena, Coppotelli, Luigina, Patrizia, Caterini, Crescenzi, Francesco, Percoco, Assunta, Petrolati, Stefania, Danieli, Roberto, Pitaro, Rosanna, Angelis, Tamara De, Raponi, Marilena, Martinis, Mauro De, Riccobene, Francesco, degl’Innocenti, Elena, Rosa, Giovanni, Sette, Laura Del, Roversi, Amanda, Paolo, Ambrogio Di, Sadocco, Sabrina, Ruzza, Luigi Di, Santarelli, Emanuela, Silvio, Rosalia Di, Tafi, Luca, Francesco, Dituri, Tomasini, Barbara, Egho, Gwenna, Traupe, Martha, Emili, Daniela, Vaccaro, Angelina, Filippo, Luca, Vasarri, Pierluigi, Foglia, Claudia, Ventura, Valentina, Gabriellini, Francesco, Vitale, Stefano, Gagliardi, Luigi, Zingoni, Anna Maria, Gallo, Annamaria

مصطلحات موضوعية: Screening

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/60/7/697Test; http://dx.doi.org/10.1136/jmg-2022-108873Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108873Test
http://jmg.bmj.com/cgi/content/short/60/7/697Test

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3

دورية أكاديمية

Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

المؤلفون: Palombo, Flavia, Vaisfeld, Alessandro, Tropeano, Valentina Concetta, Ormanbekova, Danara, Bacchi, Isabelle, Fiorini, Claudio, Peruzzi, Adelaide, Morandi, Luca, Liguori, Rocco, Carelli, Valerio, Rizzo, Giovanni

المصدر: Neurogenetics; Jul2024, Vol. 25 Issue 3, p277-280, 4p

4

دورية أكاديمية

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

المؤلفون: Pane, Marika, Cutrona, Costanza, De Sanctis, Roberto, Coratti, Giorgia, Fanelli, Lavinia, Capasso, Anna, Cicala, Gianpaolo, Antonaci, Laura, Ricci, Martina, Pera, Maria Carmela, Bravetti, Chiara, Abiusi, Emanuela, Vaisfeld, Alessandro, Onesimo, Roberta, Tiziano, Francesco Danilo, Mercuri, Eugenio

المساهمون: Pane, Marika, Stanca, Giulia, Ticci, Chiara, Cutrona, Costanza, De Sanctis, Roberto, Pirinu, Matteo, Coratti, Giorgia, Palermo, Concetta, Berti, Beatrice, Leone, Daniela, Sacchini, Michele, Cerboneschi, Margherita, Fanelli, Lavinia, Norcia, Giulia, Forcina, Nicola, Capasso, Anna, Cicala, Gianpaolo, Antonaci, Laura, Ricci, Martina, Pera, Maria Carmela, Bravetti, Chiara, Donati, Maria Alice, Procopio, Elena, Abiusi, Emanuela, Vaisfeld, Alessandro, Onesimo, Roberta, Tiziano, Francesco Danilo, Mercuri, Eugenio Maria

مصطلحات موضوعية: Floppy infant module, Neonatal neurological examination, Newborn screening, SMA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38634892; issue:Apr; firstpage:N/A; lastpage:N/A; issueyear:2024; journal:EUROPEAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/10807/274977Test

الإتاحة: https://doi.org/10.1007/s00431-024-05546-yTest
https://hdl.handle.net/10807/274977Test

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5

دورية أكاديمية

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

المؤلفون: Viggiano, Marta, Ceroni, Fabiola, Visconti, Paola, Posar, Annio, Scaduto, Maria Cristina, Sandoni, Laura, Baravelli, Irene, Cameli, Cinzia, Rochat, Magali J., Maresca, Alessandra, Vaisfeld, Alessandro, Gentilini, Davide, Calzari, Luciano, Carelli, Valerio, Zody, Michael C., Maestrini, Elena, Bacchelli, Elena

المصدر: NPJ Genomic Medicine; 3/22/2024, Vol. 9 Issue 1, p1-15, 15p

النص الكامل

6

دورية أكاديمية

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

المصدر: European Journal of Pediatrics ; volume 181, issue 7, page 2821-2829 ; ISSN 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-022-04470-3Test

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7

دورية أكاديمية

Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

المساهمون: 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

مصطلحات موضوعية: Genetic Testing, Genetics, Population, Neonatal Screening, Neuromuscular Diseases

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36414255; volume:60; firstpage:697; lastpage:705; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11585/969057Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108873Test
https://hdl.handle.net/11585/969057Test

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8

دورية أكاديمية

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

المؤلفون: Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco

المساهمون: Fondazione Telethon

المصدر: Orphanet Journal of Rare Diseases ; volume 12, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-017-0606-4Test

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9

دورية أكاديمية

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

المؤلفون: Vaisfeld, Alessandro^1,2 (AUTHOR) alessandro.vaisfeld2@unibo.it, Taormina, Sara^1,3 (AUTHOR), Simonati, Alessandro⁴ (AUTHOR), Neri, Giovanni² (AUTHOR) alessandro.vaisfeld2@unibo.it

المصدر: Genes. Oct2022, Vol. 13 Issue 10, pN.PAG-N.PAG. 9p.

مصطلحات موضوعية: *MOLECULAR spectra, *PHENOTYPES, *FACIAL abnormalities, *PROTEIN domains, *CONGENITAL disorders

النص الكامل

10

دورية أكاديمية

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

المؤلفون: Giuffrida, Maria Grazia, Goldoni, Marina, Genovesi, Maria Luce, Carpentieri, Giovanna, Torres, Barbara, Deac, Anca Daniela, Cecchetti, Serena, Martinelli, Anna, Vaisfeld, Alessandro, Flex, Elisabetta, Bernardini, Laura

المصدر: Diagnostics (2075-4418); Oct2022, Vol. 12 Issue 10, p2354-N.PAG, 9p

مصطلحات موضوعية: EBSTEIN'S anomaly, AGENESIS of corpus callosum, CORPUS callosum, MORINDA citrifolia, DNA copy number variations, HEART abnormalities

النص الكامل

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