11573/1707158 - 2024 -
Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction Giovannetti, Agnese; Guarnieri, Rosanna; Petrizzelli, Francesco; Lazzari, Sara; Padalino, Gabriella; Traversa, Alice; Napoli, Alessandro; Di Giorgio, Roberto; Pizzuti, Antonio; Parisi, Chiara; Mazza, Tommaso; Barbato, Ersilia; Caputo, Viviana - 01a Articolo in rivista
rivista: JOURNAL OF DENTAL SCIENCES (Taipei : Council on Publication of the Association for Dental Sciences of the Republic of China) pp. - - issn: 1991-7902 - wos: (0) - scopus: (0)
11573/1707571 - 2024 -
Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants Giovannetti, Agnese; Lazzari, Sara; Mangoni, Manuel; Traversa, Alice; Mazza, Tommaso; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. - - issn: 0378-1119 - wos: (0) - scopus: (0)
11573/1671216 - 2023 -
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Ottomana, Angela Maria; Hauser, Jonas; Macrì, Simone - 01a Articolo in rivista
rivista: FRONTIERS IN CELLULAR NEUROSCIENCE (Lausanne (PO Box 110, 1015) : Frontiers Research Foundation, 2007-) pp. - - issn: 1662-5102 - wos: WOS:000931132100001 (2) - scopus: 2-s2.0-85147921445 (2)
11573/1685519 - 2023 -
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients Rigolin, Gian Matteo; Traversa, Alice; Caputo, Viviana; Del Giudice, Ilaria; Bardi, Antonella; Saccenti, Elena; Raponi, Sara; Ilari, Caterina; Cafforio, Luciana; Giovannetti, Agnese; Pizzuti, Antonio; Guarini, Anna; Foà, Robin; Cuneo, Antonio - 01a Articolo in rivista
rivista: BRITISH JOURNAL OF HAEMATOLOGY (Oxford]: [Blackwell Science].) pp. - - issn: 1365-2141 - wos: WOS:001019742800001 (1) - scopus: 2-s2.0-85163011556 (1)
11573/1640953 - 2022 -
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants Giovannetti, Agnese; Bianco, Salvatore Daniele; Traversa, Alice; Panzironi, Noemi; Bruselles, Alessandro; Lazzari, Sara; Liorni, Niccolò; Tartaglia, Marco; Carella, Massimo; Pizzuti, Antonio; Mazza, Tommaso; Caputo, Viviana - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. - - issn: 1059-7794 - wos: WOS:000802100300001 (0) - scopus: 2-s2.0-85131158121 (0)
11573/1622047 - 2022 -
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Marchionni, Enrica; Traversa, Alice; Pizzuti, Antonio - 01a Articolo in rivista
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000775533800001 (7) - scopus: 2-s2.0-85125635763 (10)
11573/1648078 - 2022 -
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis Napoli, Giulia; Panzironi, Noemi; Traversa, Alice; Catalanotto, Caterina; Pace, Valentina; Petrizzelli, Francesco; Giovannetti, Agnese; Lazzari, Sara; Cogoni, Carlo; Tartaglia, Marco; Carella, Massimo; Mazza, Tommaso; Pizzuti, Antonio; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR NEUROBIOLOGY (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. - - issn: 0893-7648 - wos: WOS:000803858300001 (3) - scopus: 2-s2.0-85131184441 (3)
11573/1493515 - 2021 -
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. - 01a Articolo in rivista
rivista: BONE (New York: Pergamon Press, c1985-) pp. - - issn: 8756-3282 - wos: WOS:000615746400001 (6) - scopus: 2-s2.0-85099259643 (6)
11573/1510900 - 2021 -
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode Hauser, Jonas; Pisa, Edoardo; Arias Vásquez, Alejandro; Tomasi, Flavio; Traversa, Alice; Chiodi, Valentina; Martin, Francois-Pierre; Sprenger, Norbert; Lukjancenko, Oksana; Zollinger, Alix; Metairon, Sylviane; Schneider, Nora; Steiner, Pascal; Martire, Alberto; Caputo, Viviana; Macrì, Simone - 01a Articolo in rivista
rivista: MOLECULAR PSYCHIATRY (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. - - issn: 1359-4184 - wos: WOS:000625343900001 (41) - scopus: 2-s2.0-85106348707 (50)
11573/1622186 - 2021 -
Exposure to 3′sialyllactose‐poor milk during lactation impairs cognitive capabilities in adulthood Pisa, E.; Martire, A.; Chiodi, V.; Traversa, A.; Caputo, V.; Hauser, J.; Macri, S. - 01a Articolo in rivista
rivista: NUTRIENTS (Basel, Switzerland: Molecular Diversity Preservation International (MDPI)) pp. - - issn: 2072-6643 - wos: WOS:000737083300001 (18) - scopus: 2-s2.0-85119596077 (18)
11573/1413018 - 2020 -
Genomic and physiological resilience in extreme environments are associated with a secure attachment style Caputo, Viviana; Pacilli, Maria Giuseppina; Arisi, Ivan; Mazza, Tommaso; Brandi, Rossella; Traversa, Alice; Casasanta, Giampietro; Pisa, Edoardo; Sonnessa, Michele; Healey, Beth; Moggio, Lorenzo; D’Onofrio, Mara; Alleva, Enrico; Macrì, Simone - 01a Articolo in rivista
rivista: TRANSLATIONAL PSYCHIATRY (New York, NY : Nature Pub. Group-Springer Nature) pp. 11- - issn: 2158-3188 - wos: WOS:000542690400004 (4) - scopus: 2-s2.0-85086175054 (6)
11573/1370708 - 2020 -
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 75-79 - issn: 1873-5126 - wos: WOS:000527333100013 (9) - scopus: 2-s2.0-85080039205 (13)
11573/1421957 - 2020 -
Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings Mastromoro, G.; Capalbo, A.; Guido, C. A.; Torres, B.; Fabbretti, M.; Traversa, A.; Giancotti, A.; Ventriglia, F.; Bernardini, L.; Spalice, A.; Pizzuti, A. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 103772- - issn: 1769-7212 - wos: WOS:000522728900053 (8) - scopus: 2-s2.0-85072785130 (6)
11573/1410285 - 2020 -
Absence of 6’Sialyllactose during lactation impairs cognitive capabilities and modulates gene expression Pisa, Edoardo; Traversa, Alice; Caputo, Viviana; Martire, Alberto; Chiodi, Valentina; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: Federation of European Neuroscience Societies 2020 virtual forum (Virtual Forum)
libro: FENS 2020 virtual forum abstract book - ()
11573/1413909 - 2020 -
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. e1336- - issn: 2324-9269 - wos: WOS:000539082200001 (3) - scopus: 2-s2.0-85086178317 (3)
11573/1405448 - 2019 -
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease Mastromoro, Gioia; Gambardella, Stefano; Marchionni, Enrica; Campopiano, Rosa; Traversa, Alice; Di Bonaventura, Carlo; Pizzuti, Antonio - 01a Articolo in rivista
rivista: NEURODEGENERATIVE DISEASES (Basel [etc.]: S. Karger 2004-) pp. - - issn: 1660-2854 - wos: WOS:000503252600005 (2) - scopus: 2-s2.0-85073114749 (2)
11573/1349168 - 2019 -
Reduced availability of a selective human milk oligosaccharide during lactation impairs post-weaning executive functions Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Hauser, Jonas; Macrì, Simone - 04f Poster
congresso: SINS national meeting of PhD students in neuroscience 2019 (“Federico II” University of Naples, Italy)
libro: SINS abstract book - ()
11573/1349181 - 2019 -
Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions Pisa, Edoardo; Tomasi, Flavio; Traversa, Alice; Caputo, Viviana; Macrì, Simone; Hauser, Jonas - 04d Abstract in atti di convegno
congresso: 48th meeting of the european brain and behaviour society (Prague; Czech Republic)
libro: 48th meeting of EBBS abstract book - ()
11573/1349570 - 2019 -
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000497878100001 (3) - scopus: 2-s2.0-85075459805 (4)
11573/1108825 - 2018 -
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista
rivista: ARCHIVES OF ORAL BIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 96-102 - issn: 0003-9969 - wos: WOS:000432768400012 (7) - scopus: 2-s2.0-85046169366 (7)
11573/1179906 - 2018 -
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Vahidi Mehrjardi, Mohammad Yahya; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Malamiri, Reza Azizi; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Shariati, Gholam Reza; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco - 01a Articolo in rivista
rivista: NEUROLOGY (Wolters Kluwer
Hagerstown MD: Lippincott Williams & Wilkins
Cleveland Ohio: Advanstar Communications) pp. e319-e330 - issn: 0028-3878 - wos: WOS:000440909200003 (29) - scopus: 2-s2.0-85059641426 (32)
11573/783132 - 2015 -
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies E. Stellacci, M. Niceta; Gripp, K. W.; Zampino, G.; Kousi, M.; Manselmi, M. Anselmi; Traversa, A.; Ciolfi, A.; Stabley, D.; Bruselles, A.; Caputo, V.; Scecchetti, S. Cecchetti; Prudente, S.; Fiorenza, M. T.; Boitani, C.; Philip, N.; Dniyazov, D. Niyazov; Leoni, C.; Nakane, T.; Keppler-Noreuil, K.; Braddock, S. R.; Gillessen-Kaesbach, G.; Palleschi, A.; Campeau, P. M.; Lee, B. H. L.; Pouponnot, C.; Stella, L.; Gbocchinfuso, G. Bocchinfuso; Nkatsanis, N. Katsanis; Ksol-Church, K. Sol-Church - 01i Case report
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 816-825 - issn: 0002-9297 - wos: WOS:000354189300012 (86) - scopus: 2-s2.0-84929289243 (91)
11573/556156 - 2014 -
Novel SMAD4 mutation causing Myhre syndrome Caputo, Viviana; Gianfranco, Bocchinfuso; Marco, Castori; Traversa, Alice; Pizzuti, Antonio; Lorenzo, Stella; Grammatico, Paola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1835-1840 - issn: 1552-4833 - wos: WOS:000337633300035 (27) - scopus: 2-s2.0-84902540055 (26)