PALOMBO, FLAVIA

PALOMBO, FLAVIA  

ARAG - AREA FINANZA E PARTECIPATE  

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Risultati 1 - 19 di 19 (tempo di esecuzione: 0.033 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman Palombo, Flavia; Al-Wardy, Nadia; Gnecchi Ruscone, Guido Alberto; Oppo, Manuela; Kindi, Mohammed ...Nasser Al; Angius, Andrea; Al Lamki, Khalsa; Girotto, Giorgia; Giangregorio, Tania; Benelli, Matteo; Magi, Alberto; Seri, Marco; Gasparini, Paolo; Cucca, Francesco; Sazzini, Marco; Al Khabori, Mazin; Pippucci, Tommaso; Romeo, Giovanni 2017-01-01 JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius;
L. Crisponi; F. Cucca; R. Liguor...
i; M. L. Valentino; M. Seri; V. Carelli
2013-01-01 PLOS ONE - 1.01 Articolo in rivista journal.pone.0082154.PDF
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. 2021-01-01 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE - 1.01 Articolo in rivista jcmm.16161.pdf
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population Bacalini, Maria Giulia; Palombo, Flavia; Garagnani, Paolo; Giuliani, Cristina; Fiorini, Claudio; ...Caporali, Leonardo; Stanzani Maserati, Michelangelo; Capellari, Sabina; Romagnoli, Martina; De Fanti, Sara; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Galimberti, Daniela; Scarpini, Elio; Arcaro, Marina; Bonanni, Enrica; Siciliano, Gabriele; Maestri, Michelangelo; Guarnieri, Biancamaria; Martucci, Morena; Monti, Daniela; Carelli, Valerio; Franceschi, Claudio; La Morgia, Chiara; Santoro, Aurelia 2022-01-01 GEROSCIENCE - 1.01 Articolo in rivista s11357-021-00477-0.pdf
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics Magi A.; Giangregorio T.; Semeraro R.; Carangelo G.; Palombo F.; Romeo G.; Seri M.; Pippucci T. 2020-01-01 COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL - 1.01 Articolo in rivista 1-s2.0-S2001037020303354-main.pdfScienceDirect_files_24Jan2023_11-11-38.150.zip
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M. 2020-01-01 HUMAN GENETICS - 1.01 Articolo in rivista s00439-020-02187-7.pdfPalombo_2020_AM.pdf
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts Milev, Miroslav P.; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F. E.; Al-Deri, Noraldin...; Cordelli, Duccio Maria; Haack, Tobias B.; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; Van Gassen, Koen L. I.; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A.; Sacher, Michael; Van Hasselt, Peter M. 2018-01-01 JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia Melazzini, Federica; Palombo, Flavia; Balduini, Alessandra; De Rocco, Daniela; Marconi, Caterina;... Noris, Patrizia; Gnan, Chiara; Pippucci, Tommaso; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Doubek, Michael; Di Buduo, Christian A; Stano Kozubik, Katerina; Radova, Lenka; Loffredo, Giuseppe; Pospisilova, Sarka; Alfano, Caterina; Seri, Marco; Balduini, Carlo L; Pecci, Alessandro; Savoia, Anna 2016-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista 7877-Article Text-51972-1-10-20200724.pdf
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype Rajabian, Firuzeh; Manitto, Maria Pia; Palombo, Flavia; Caporali, Leonardo; Grazioli, Alessio; St...arace, Vincenzo; Arrigo, Alessandro; Cascavilla, Maria Lucia; La Morgia, Chiara; Barboni, Piero; Bandello, Francesco; Carelli, Valerio; Battaglia Parodi, Maurizio 2021-01-01 JOURNAL OF NEURO-OPHTHALMOLOGY - 1.04 Replica / breve intervento (e simili) -
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenes...ini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Caporali_mitogenomce_FrontG2022.pdf
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nar...di, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso 2023-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista 10900-Article Text-79827-2-10-20230629.pdf10900.zip
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies Harel T.; Griffin J.N.; Arbogast T.; Monroe T.O.; Palombo F.; Martinelli M.; Seri M.; Pippucci T....; Elpeleg O.; Katsanis N. 2020-01-01 HUMAN MOLECULAR GENETICS ONLINE - 1.01 Articolo in rivista -
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness Nardecchia F.; De Giorgi A.; Palombo F.; Fiorini C.; De Negri A.M.; Carelli V.; Caporali L.; Leuz...zi V. 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista acn3.51232.pdf
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visc...onti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca 2022-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.06 Abstract in rivista -
Mutations of RUNX1 in families with inherited thrombocytopenia De Rocco, Daniela; Melazzini, Federica; Marconi, Caterina; Pecci, Alessandro; Bottega, Roberta; G...nan, Chiara; Palombo, Flavia; Giordano, Paola; Coccioli, Maria Susanna; Glembotsky, Ana C.; Heller, Paula G.; Seri, Marco; Savoia, Anna; Noris, Patrizia 2017-01-01 AMERICAN JOURNAL OF HEMATOLOGY - 1.01 Articolo in rivista -
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome Magini, Pamela; Palombo, Flavia; Boito, Simona; Lanzoni, Giulia; Mongelli, Patrizia; Rizzuti, Tom...maso; Baccarin, Marco; Pippucci, Tommaso; Seri, Marco; Lalatta, Faustina 2016-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia Marconi, Caterina; Di Buduo, Christian A.; Barozzi, Serena; Palombo, Flavia; Pardini, Simonetta; ...Zaninetti, Carlo; Pippucci, Tommaso; Noris, Patrizia; Balduini, Alessandra; Seri, Marco; Pecci, Alessandro 2016-01-01 THROMBOSIS AND HAEMOSTASIS - 1.04 Replica / breve intervento (e simili) -
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients Ciavarella, Michele; Miccoli, Sara; Prossomariti, Anna; Pippucci, Tommaso; Bonora, Elena; Buscher...ini, Francesco; Palombo, Flavia; Zuntini, Roberta; Balbi, Tiziana; Ceccarelli, Claudio; Bazzoli, Franco; Ricciardiello, Luigi; Turchetti, Daniela; Piazzi, Giulia 2018-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista s41431-017-0086-y.pdf
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Aless...andra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio 2020-01-01 THE JOURNAL OF CLINICAL INVESTIGATION - 1.01 Articolo in rivista -