CERONI, FABIOLA
Dettaglio
CERONI, FABIOLA
DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE
Ricercatori a tempo determinato
Pubblicazioni
Risultati 1 - 13 di 13 (tempo di esecuzione: 0.001 secondi).
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File | |
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1 | 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 | AUTISM RESEARCH | 1.01 Articolo in rivista | - | |
2 | 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 | HUMAN MOLECULAR GENETICS | 1.01 Articolo in rivista | - | |
3 | 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 | FRONTIERS IN PSYCHIATRY | 1.01 Articolo in rivista | - | |
4 | 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 | JOURNAL OF NEURODEVELOPMENTAL DISORDERS | 1.01 Articolo in rivista | ||
5 | 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 | HUMAN GENETICS | 1.01 Articolo in rivista | - | |
6 | 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 | EUROPEAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
7 | 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 | EUROPEAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
8 | 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 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | 1.01 Articolo in rivista | ||
9 | 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 | SCIENTIFIC REPORTS | 1.01 Articolo in rivista | - | |
10 | 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 | HUMAN GENETICS | 1.01 Articolo in rivista | - | |
11 | 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 | SCIENTIFIC REPORTS | 1.01 Articolo in rivista | - | |
12 | 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 | AMERICAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
13 | 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 | EUROPEAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - |