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Author/Creator Simonelli, Francesca

1. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Issue 2 (12th December 2017)

Authors:
Alagia, Marianna; Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Brunetti‐Pierri, Raffaella; Simonelli, Francesca; Limongelli, Giuseppe; Oppido, Guido; Nigro, Vincenzo; Brunetti‐Pierri, Nicola
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
426
Record Type:
Journal Article
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2. Achievement of multiple therapeutic targets for cardiovascular disease prevention: Retrospective analysis of real practice in Italy. Issue 6 (5th June 2018)

Authors:
Figliuzzi, Ilaria; Presta, Vivianne; Citoni, Barbara; Miceli, Francesca; Simonelli, Francesca; Battistoni, Allegra; Coluccia, Roberta; Ferrucci, Andrea; Volpe, Massimo; Tocci, Giuliano
Journal:
Clinical cardiology
Issue:
Volume 41:Issue 6(2018)
Page Start:
788
Record Type:
Journal Article
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3. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020)

Authors:
Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 13(2020)
Page Start:
2250
Record Type:
Journal Article
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5. Atrial natriuretic peptide predicts disease progression and digital ulcers development in systemic sclerosis patients. Issue 11 (November 2019)

Authors:
Romaniello, Antonella; Rubattu, Speranza; Gigante, Antonietta; Simonelli, Francesca; Grimaldi, Maria C.; D'Angelo, Adriano; Alunni, Danilo; Sada, Lidia; Gasperini, Maria L.; Marchitti, Simona; Volpe, Massimo; Rosato, Edoardo
Journal:
Journal of cardiovascular medicine
Issue:
Volume 20:Issue 11(2019:Nov.)
Page Start:
Record Type:
Journal Article
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8. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. Issue 8 (August 2017)

Authors:
Testa, Francesco; Melillo, Paolo; Bonnet, Crystel; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Kurtenbach, Anne; Rossi, Settimio; Marciano, Elio; Auricchio, Alberto; Petit, Christine; Zrenner, Eberhart; Simonelli, Francesca
Journal:
Retina
Issue:
Volume 37:Issue 8(2017:Aug.)
Page Start:
Record Type:
Journal Article
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9. Development of a genotyping microarray for Usher syndrome. Issue 2 (8th September 2006)

Authors:
Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Web...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 2(2007)
Page Start:
153
Record Type:
Journal Article
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10. Early posterior vitreous detachment is associated with LAMA5 dominant mutation. (2nd January 2019)

Authors:
Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone, Mariarosa Anna Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone
Journal:
Ophthalmic genetics
Issue:
Volume 40:Number 1(2019)
Page Start:
39
Record Type:
Journal Article
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