CERONI, FABIOLA

CERONI, FABIOLA  

DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE  

Ricercatori a tempo determinato  

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Titolo Autore(i) Anno Periodico Editore Tipo File
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. Bacchelli E;Ceroni F;Pinto D;Lomartire S;Giannandrea M;D'Adamo P;Bonora E;Parchi P;Tancredi R;Bat...taglia A;Maestrini E 2014-01-01 JOURNAL OF NEURODEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista 1866-1955-6-17.pdf
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. Ceroni F;Sagar A;Simpson NH;Gawthrope AJ;Newbury DF;Pinto D;Francis SM;Tessman DC;Cook EH;Monaco ...AP;Maestrini E;Pagnamenta AT;Jacob S 2014-01-01 AUTISM RESEARCH - 1.01 Articolo in rivista -
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
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia Ceroni, Fabiola; Osborne, Daniel; Clokie, Samuel; Bax, Dorine A; Cassidy, Emma J; Dunn, Matt J; H...arris, Christopher M; Self, Jay E; Ragge, Nicola K 2022-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits Zha C.; Farah C.A.; Holt R.J.; Ceroni F.; Al-Abdi L.; Thuriot F.; Khan A.O.; Helaby R.; Levesque ...S.; Alkuraya F.S.; Kraus A.; Ragge N.K.; Sossin W.S. 2020-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria... Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena 2022-01-01 FRONTIERS IN PSYCHIATRY - 1.01 Articolo in rivista Viggiano et al.pdf
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies Holt R.J.; Young R.M.; Crespo B.; Ceroni F.; Curry C.J.; Bellacchio E.; Bax D.A.; Ciolfi A.; Simo...n M.; Fagerberg C.R.; van Binsbergen E.; De Luca A.; Memo L.; Dobyns W.B.; Mohammed A.A.; Clokie S.J.H.; Zazo Seco C.; Jiang Y.-H.; Sorensen K.P.; Andersen H.; Sullivan J.; Powis Z.; Chassevent A.; Smith-Hicks C.; Petrovski S.; Antoniadi T.; Shashi V.; Gelb B.D.; Wilson S.W.; Gerrelli D.; Tartaglia M.; Chassaing N.; Calvas P.; Ragge N.K. 2019-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Discovery of 42 genome-wide significant loci associated with dyslexia Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gök...berk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle;
*Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu
2022-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia Plaisancie J.; Ceroni F.; Holt R.; Zazo Seco C.; Calvas P.; Chassaing N.; Ragge N.K. 2019-01-01 HUMAN GENETICS - 1.01 Articolo in rivista -
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Eising, Else; Mirza-Schreiber, Nazanin; de Zeeuw, Eveline L; Wang, Carol A; Truong, Dongnhu T; Al...legrini, Andrea G; Shapland, Chin Yang; Zhu, Gu; Wigg, Karen G; Gerritse, Margot L; Molz, Barbara; Alagöz, Gökberk; Gialluisi, Alessandro; Abbondanza, Filippo; Rimfeld, Kaili; van Donkelaar, Marjolein; Liao, Zhijie; Jansen, Philip R; Andlauer, Till F M; Bates, Timothy C; Bernard, Manon; Blokland, Kirsten; Bonte, Milene; Børglum, Anders D; Bourgeron, Thomas; Brandeis, Daniel; Ceroni, Fabiola; Csépe, Valéria; Dale, Philip S; de Jong, Peter F; DeFries, John C; Démonet, Jean-François; Demontis, Ditte; Feng, Yu; Gordon, Scott D; Guger, Sharon L; Hayiou-Thomas, Marianna E; Hernández-Cabrera, Juan A; Hottenga, Jouke-Jan; Hulme, Charles; Kere, Juha; Kerr, Elizabeth N; Koomar, Tanner; Landerl, Karin; Leonard, Gabriel T; Lovett, Maureen W; Lyytinen, Heikki; Martin, Nicholas G; Martinelli, Angela; Maurer, Urs; Michaelson, Jacob J; Moll, Kristina; Monaco, Anthony P; Morgan, Angela T; Nöthen, Markus M; Pausova, Zdenka; Pennell, Craig E; Pennington, Bruce F; Price, Kaitlyn M; Rajagopal, Veera M; Ramus, Franck; Richer, Louis; Simpson, Nuala H; Smith, Shelley D; Snowling, Margaret J; Stein, John; Strug, Lisa J; Talcott, Joel B; Tiemeier, Henning; van der Schroeff, Marc P; Verhoef, Ellen; Watkins, Kate E; Wilkinson, Margaret; Wright, Margaret J; Barr, Cathy L; Boomsma, Dorret I; Carreiras, Manuel; Franken, Marie-Christine J; Gruen, Jeffrey R; Luciano, Michelle; Müller-Myhsok, Bertram; Newbury, Dianne F; Olson, Richard K; Paracchini, Silvia; Paus, Tomáš; Plomin, Robert; Reilly, Sheena; Schulte-Körne, Gerd; Tomblin, J Bruce; van Bergen, Elsje; Whitehouse, Andrew J O; Willcutt, Erik G; St Pourcain, Beate; Francks, Clyde; Fisher, Simon E 2022-01-01 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA - 1.01 Articolo in rivista -
Genome-wide analysis identifies a role for common copy number variants in specific language impairment Simpson N.H.; Ceroni F.; Reader R.H.; Covill L.E.; Knight J.C.; Nudel R.; Monaco A.P.; Simonoff E....; Pickles A.; Slonims V.; Dworzynski K.; Everitt A.; Clark A.; Watson J.; Seckl J.; Cowie H.; Cohen W.; Nasir J.; Bishop D.V.M.; Simkin Z; Hennessy E.R.; Bolton P.F.; Conti-Ramsden G.; O'Hare A.; Baird G.; Fisher S.E.; Newbury D.F. 2015-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Ceroni F; Simpson NH; Francks C; Baird G; Conti-Ramsden G; Clark A; Bolton PF; Hennessy ER; Donne...lly P; Bentley DR; Martin H; Parr J; Pagnamenta AT; Maestrini E; Bacchelli E; Fisher SE; Newbury DF 2014-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation Prekovic S.; Durdevic D.F.; Csifcsak G.; Sveljo O.; Stojkovic O.; Jankovic M.; Koprivsek K.; Covi...ll L.E.; Lucic M.; Van Den Broeck T.; Helsen C.; Ceroni F.; Claessens F.; Newbury D.F. 2016-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista -
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies Ceroni F.; Aguilera-Garcia D.; Chassaing N.; Bax D.A.; Blanco-Kelly F.; Ramos P.; Tarilonte M.; V...illaverde C.; da Silva L.R.J.; Ballesta-Martinez M.J.; Sanchez-Soler M.J.; Holt R.J.; Cooper-Charles L.; Bruty J.; Wallis Y.; McMullan D.; Hoffman J.; Bunyan D.; Stewart A.; Stewart H.; Lachlan K.; Fryer A.; McKay V.; Roume J.; Dureau P.; Saggar A.; Griffiths M.; Calvas P.; Ayuso C.; Corton M.; Ragge N.K. 2019-01-01 HUMAN GENETICS - 1.01 Articolo in rivista -
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders Holt R.; Ceroni F.; Bax D.A.; Broadgate S.; Diaz D.G.; Santos C.; Gerrelli D.; Ragge N.K. 2017-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista -
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' Ceroni, Fabiola; Simpson, Nuala H.; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, A...nn; Bolton, Patrick F.; Hennessy, Elizabeth R.; Donnelly, Peter; Bentley, David R.; Martin, Hilary; Parr, Jeremy; Pagnamenta, Alistair T.; Maestrini, Elena; Bacchelli, Elena; Fisher, Simon E.; Newbury, Dianne F. 2015-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -