Search Results - "Farnetani, M.A."

2q24–q31 Deletion: Report of a case and review of the literature by Pescucci, C, Caselli, R, Grosso, S, Mencarelli, M.A, Mari, F, Farnetani, M.A, Piccini, B, Artuso, R, Bruttini, M, Priolo, M, Zuffardi, O, Gimelli, S, Balestri, P, Renieri, A

“…Abstract We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q24.3–q31.1. The patient shows postnatal…”
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Intractable reflex audiogenic seizures in Aicardi syndrome by Grosso, S., Farnetani, M.A., Bernardoni, E., Morgese, G., Balestri, P.

“…Aicardi syndrome (AS) is a rare disorder which includes the triad of total or partial agenesis of the corpus callosum, infantile spasms, and chorioretinal…”
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Epilepsy, progressive cerebral calcifications, and coeliac disease by Fois, A, Balestri, P, Vascotto, M, Farnetani, M A, Di Bartolo, R M, Di Marco, V

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Efficacy and safety of topiramate in infants according to epilepsy syndromes by Grosso, S., Galimberti, D., Farnetani, M.A., Cioni, M., Mostardini, R., Vivarelli, R., Di Bartolo, R.M., Bernardoni, E., Berardi, R., Morgese, G., Balestri, P.

“…Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of…”
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Chromosome 18 aberrations and epilepsy: A review by Grosso, S., Pucci, L., Di Bartolo, R.M., Gobbi, G., Bartalini, G., Anichini, C., Scarinci, R., Balestri, M., Farnetani, M.A., Cioni, M., Morgese, G., Balestri, P.

“…Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients…”
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Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity? by Grosso, S., de Cosmo, L., Bonifazi, E., Galluzzi, P., Farnetani, M.A., Loffredo, P., Anichini, C., Berardi, R., Morgese, G., Balestri, Paolo

“…Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym…”
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Familial Axenfeld‐Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome? by Grosso, S., Farnetani, M.A., Berardi, R., Vivarelli, R., Vanni, M., Morgese, G., Balestri, P.

“…Axenfeld‐Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe…”
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Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome? by Grosso, S., Farnetani, M.A., Berardi, R., Vivarelli, R., Vanni, M., Morgese, G., Balestri, P.

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Chromosome 18 aberrations and epilepsy: A review by Grosso, S., Pucci, L., Di Bartolo, R.M., Gobbi, G., Bartalini, G., Anichini, C., Scarinci, R., Balestri, M., Farnetani, M.A., Cioni, M., Morgese, G., Balestri, P.

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Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity? by Grosso, S., de Cosmo, L., Bonifazi, E., Galluzzi, P., Farnetani, M.A., Loffredo, P., Anichini, C., Berardi, R., Morgese, G., Balestri, Paolo

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