Sfoglia per Autore
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
2015-01-01 Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience
2016-01-01 Fiaschi, Pietro; Pavanello, Marco; Imperato, Alessia; Dallolio, Villiam; Accogli, Andrea; Oapra, Valeria; Oonsales, Alessandro; Oama, Armando; Piatelli, Gianluca
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature
2016-01-01 Fiaschi, Pietro; Severino, Mariasavina; Ravegnani, GIUSEPPE MARCELLO; Piatelli, Gianluca; Consales, Alessandro; Accogli, Andrea; Capra, Valeria; Cama, Armando; Pavanello, Marco
Genetic Screening of Pediatric Cavernous Malformations
2016-01-01 Merello, E.; Pavanello, M.; Consales, A.; Mascelli, S.; Raso, A.; Accogli, A.; Cama, A.; Valeria, C.; De Marco, P.
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
2017-01-01 Accogli, Andrea; Iacomino, Michele; Pinto, Francesca; Orsini, Alessandro; Vari, Maria Stella; Selmi, Raed; Torella, Annalaura; Nigro, Vincenzo; Minetti, Carlo; Severino, Mariasavina; Striano, Pasquale; Capra, Valeria; Zara, Federico
A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions
2018-01-01 Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations
2018-01-01 Accogli, Andrea; Scala, Marcello; Calcagno, Annalisa; Napoli, Flavia; Di Iorgi, Natascia; Arrigo, Serena; Mancardi, Maria Margherita; Prato, Giulia; Pisciotta, Livia; Nagel, Mato; Severino, Mariasavina; Capra, Valeria
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome
2018-01-01 Accogli, Andrea; Scala, M.; Calcagno, A.; Castello, R.; Torella, A.; Musacchia, F.; Allegri, A. M. E.; Mancardi, M. M.; Maghnie, M.; Severino, M.; Nigro, V.; Capra, V.
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia
2019-01-01 Scala, M.; Accogli, A.; Allegri, A. M. E.; Tassano, E.; Severino, M.; Morana, G.; Maghnie, M.; Capra, V.
Chiari malformation type I: what information from the genetics?
2019-01-01 Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P.
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development
2019-01-01 Uccella, S.; Accogli, A.; Tortora, D.; Mancardi, M. M.; Nobili, L.; Berloco, B.; Morana, G.; Striano, P.; Capra, V.; Srour, M.; Saint-Martine, C.; Rossi, A.; Severino, M.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34
2019-01-01 Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion
2019-01-01 Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
2019-01-01 Scala, Marcello; Torella, Annalaura; Severino, Mariasavina; Morana, Giovanni; Castello, Raffaele; Accogli, Andrea; Verrico, Antonio; Vari, Maria Stella; Cappuccio, Gerarda; Pinelli, Michele; Vitiello, Giuseppina; Terrone, Gaetano; D'Amico, Alessandra; Nigro, Vincenzo; Capra, Valeria
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
2020-01-01 Carvill, G. L.; Helbig, K. L.; Myers, C. T.; Scala, M.; Huether, R.; Lewis, S.; Kruer, T. N.; Guida, B. S.; Bakhtiari, S.; Sebe, J.; Tang, S.; Stickney, H.; Oktay, S. U.; Bhandiwad, A. A.; Ramsey, K.; Narayanan, V.; Feyma, T.; Rohena, L. O.; Accogli, A.; Severino, M.; Hollingsworth, G.; Gill, D.; Depienne, C.; Nava, C.; Sadleir, L. G.; Caruso, P. A.; Lin, A. E.; Jansen, F. E.; Koeleman, B.; Brilstra, E.; Willemsen, M. H.; Kleefstra, T.; Sa, J.; Mathieu, M. -L.; Perrin, L.; Lesca, G.; Striano, P.; Casari, G.; Scheffer, I. E.; Raible, D.; Sattlegger, E.; Capra, V.; Padilla-Lopez, S.; Mefford, H. C.; Kruer, M. C.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity
2020-01-01 Serey-Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande-Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder
2020-01-01 Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
2020-01-01 Iacomino, Michele; Baldassari, Simona; Tochigi, Yuki; Kośla, Katarzyna; Buffelli, Francesca; Torella, Annalaura; Severino, Mariasavina; Paladini, Dario; Mandarà, Luana; Riva, Antonella; Scala, Marcello; Balagura, Ganna; Accogli, Andrea; Nigro, Vincenzo; Minetti, Carlo; Fulcheri, Ezio; Zara, Federico; K Bednarek, Andrzej; Striano, Pasquale; Suzuki, Hiroetsu; SALPIETRO DAMIANO, Vincenzo
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
2020-01-01 Villa, R.; Fergnani, V. G. C.; Silipigni, R.; Guerneri, S.; Cinnante, C.; Guala, A.; Danesino, C.; Scola, E.; Conte, G.; Fumagalli, M.; Gangi, S.; Colombo, L.; Picciolini, O.; Ajmone, P. F.; Accogli, A.; Madia, F.; Tassano, E.; Scala, M.; Capra, V; Srour, M.; Spaccini, L.; Righini, A.; Greco, D.; Castiglia, L.; Romano, C.; Bedeschi, M. F.
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
2021-01-01 Pavanello, M.; Fiaschi, P.; Accogli, A.; Severino, M.; Tortora, D.; Piatelli, G.; Capra, V.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? | 1-gen-2015 | Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria | |
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience | 1-gen-2016 | Fiaschi, Pietro; Pavanello, Marco; Imperato, Alessia; Dallolio, Villiam; Accogli, Andrea; Oapra, Valeria; Oonsales, Alessandro; Oama, Armando; Piatelli, Gianluca | |
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature | 1-gen-2016 | Fiaschi, Pietro; Severino, Mariasavina; Ravegnani, GIUSEPPE MARCELLO; Piatelli, Gianluca; Consales, Alessandro; Accogli, Andrea; Capra, Valeria; Cama, Armando; Pavanello, Marco | |
Genetic Screening of Pediatric Cavernous Malformations | 1-gen-2016 | Merello, E.; Pavanello, M.; Consales, A.; Mascelli, S.; Raso, A.; Accogli, A.; Cama, A.; Valeria, C.; De Marco, P. | |
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities | 1-gen-2017 | Accogli, Andrea; Iacomino, Michele; Pinto, Francesca; Orsini, Alessandro; Vari, Maria Stella; Selmi, Raed; Torella, Annalaura; Nigro, Vincenzo; Minetti, Carlo; Severino, Mariasavina; Striano, Pasquale; Capra, Valeria; Zara, Federico | |
A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions | 1-gen-2018 | Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria | |
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations | 1-gen-2018 | Accogli, Andrea; Scala, Marcello; Calcagno, Annalisa; Napoli, Flavia; Di Iorgi, Natascia; Arrigo, Serena; Mancardi, Maria Margherita; Prato, Giulia; Pisciotta, Livia; Nagel, Mato; Severino, Mariasavina; Capra, Valeria | |
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome | 1-gen-2018 | Accogli, Andrea; Scala, M.; Calcagno, A.; Castello, R.; Torella, A.; Musacchia, F.; Allegri, A. M. E.; Mancardi, M. M.; Maghnie, M.; Severino, M.; Nigro, V.; Capra, V. | |
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia | 1-gen-2019 | Scala, M.; Accogli, A.; Allegri, A. M. E.; Tassano, E.; Severino, M.; Morana, G.; Maghnie, M.; Capra, V. | |
Chiari malformation type I: what information from the genetics? | 1-gen-2019 | Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P. | |
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development | 1-gen-2019 | Uccella, S.; Accogli, A.; Tortora, D.; Mancardi, M. M.; Nobili, L.; Berloco, B.; Morana, G.; Striano, P.; Capra, V.; Srour, M.; Saint-Martine, C.; Rossi, A.; Severino, M. | |
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 | 1-gen-2019 | Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S. | |
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion | 1-gen-2019 | Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V. | |
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females | 1-gen-2019 | Scala, Marcello; Torella, Annalaura; Severino, Mariasavina; Morana, Giovanni; Castello, Raffaele; Accogli, Andrea; Verrico, Antonio; Vari, Maria Stella; Cappuccio, Gerarda; Pinelli, Michele; Vitiello, Giuseppina; Terrone, Gaetano; D'Amico, Alessandra; Nigro, Vincenzo; Capra, Valeria | |
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy | 1-gen-2020 | Carvill, G. L.; Helbig, K. L.; Myers, C. T.; Scala, M.; Huether, R.; Lewis, S.; Kruer, T. N.; Guida, B. S.; Bakhtiari, S.; Sebe, J.; Tang, S.; Stickney, H.; Oktay, S. U.; Bhandiwad, A. A.; Ramsey, K.; Narayanan, V.; Feyma, T.; Rohena, L. O.; Accogli, A.; Severino, M.; Hollingsworth, G.; Gill, D.; Depienne, C.; Nava, C.; Sadleir, L. G.; Caruso, P. A.; Lin, A. E.; Jansen, F. E.; Koeleman, B.; Brilstra, E.; Willemsen, M. H.; Kleefstra, T.; Sa, J.; Mathieu, M. -L.; Perrin, L.; Lesca, G.; Striano, P.; Casari, G.; Scheffer, I. E.; Raible, D.; Sattlegger, E.; Capra, V.; Padilla-Lopez, S.; Mefford, H. C.; Kruer, M. C. | |
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity | 1-gen-2020 | Serey-Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande-Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel | |
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder | 1-gen-2020 | Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria | |
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development | 1-gen-2020 | Iacomino, Michele; Baldassari, Simona; Tochigi, Yuki; Kośla, Katarzyna; Buffelli, Francesca; Torella, Annalaura; Severino, Mariasavina; Paladini, Dario; Mandarà, Luana; Riva, Antonella; Scala, Marcello; Balagura, Ganna; Accogli, Andrea; Nigro, Vincenzo; Minetti, Carlo; Fulcheri, Ezio; Zara, Federico; K Bednarek, Andrzej; Striano, Pasquale; Suzuki, Hiroetsu; SALPIETRO DAMIANO, Vincenzo | |
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations | 1-gen-2020 | Villa, R.; Fergnani, V. G. C.; Silipigni, R.; Guerneri, S.; Cinnante, C.; Guala, A.; Danesino, C.; Scola, E.; Conte, G.; Fumagalli, M.; Gangi, S.; Colombo, L.; Picciolini, O.; Ajmone, P. F.; Accogli, A.; Madia, F.; Tassano, E.; Scala, M.; Capra, V; Srour, M.; Spaccini, L.; Righini, A.; Greco, D.; Castiglia, L.; Romano, C.; Bedeschi, M. F. | |
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management | 1-gen-2021 | Pavanello, M.; Fiaschi, P.; Accogli, A.; Severino, M.; Tortora, D.; Piatelli, G.; Capra, V. |
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