Sfoglia per Autore
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism
2021-01-01 Keller R.; Carli D.; Brighenti S.; Salerno L.; Biamino E.; Raino E.; Vitiello B.; Ferrero G.B.
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”
2021-01-01 Tuli G.; Munarin J.; Mussa A.; Carli D.; Gastaldi R.; Borgia P.; Vigone M.C.; Abbate M.; Ferrero G.B.; De Sanctis L.
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
BULLOUS PILOMATRIXOMA
2020-01-01 Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F.
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance
2020-01-01 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician
2020-01-01 Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020-01-01 Bryant L.; Li D.; Cox S.G.; Marchione D.; Joiner E.F.; Wilson K.; Janssen K.; Lee P.; March M.E.; Nair D.; Sherr E.; Fregeau B.; Wierenga K.J.; Wadley A.; Mancini G.M.S.; Powell-Hamilton N.; van de Kamp J.; Grebe T.; Dean J.; Ross A.; Crawford H.P.; Powis Z.; Cho M.T.; Willing M.C.; Manwaring L.; Schot R.; Nava C.; Afenjar A.; Lessel D.; Wagner M.; Klopstock T.; Winkelmann J.; Catarino C.B.; Retterer K.; Schuette J.L.; Innis J.W.; Pizzino A.; Luttgen S.; Denecke J.; Strom T.M.; Monaghan K.G.; Yuan Z.-F.; Dubbs H.; Bend R.; Lee J.A.; Lyons M.J.; Hoefele J.; Gunthner R.; Reutter H.; Keren B.; Radtke K.; Sherbini O.; Mrokse C.; Helbig K.L.; Odent S.; Cogne B.; Mercier S.; Bezieau S.; Besnard T.; Kury S.; Redon R.; Reinson K.; Wojcik M.H.; Ounap K.; Ilves P.; Innes A.M.; Kernohan K.D.; Costain G.; Meyn M.S.; Chitayat D.; Zackai E.; Lehman A.; Kitson H.; Martin M.G.; Martinez-Agosto J.A.; Nelson S.F.; Palmer C.G.S.; Papp J.C.; Parker N.H.; Sinsheimer J.S.; Vilain E.; Wan J.; Yoon A.J.; Zheng A.; Brimble E.; Ferrero G.B.; Radio F.C.; Carli D.; Barresi S.; Brusco A.; Tartaglia M.; Thomas J.M.; Umana L.; Weiss M.M.; Gotway G.; Stuurman K.E.; Thompson M.L.; McWalter K.; Stumpel C.T.R.M.; Stevens S.J.C.; Stegmann A.P.A.; Tveten K.; Vollo A.; Prescott T.; Fagerberg C.; Laulund L.W.; Larsen M.J.; Byler M.; Lebel R.R.; Hurst A.C.; Dean J.; Schrier Vergano S.A.; Norman J.; Mercimek-Andrews S.; Neira J.; Van Allen M.I.; Longo N.; Sellars E.; Louie R.J.; Cathey S.S.; Brokamp E.; Heron D.; Snyder M.; Vanderver A.; Simon C.; de la Cruz X.; Padilla N.; Crump J.G.; Chung W.; Garcia B.; Hakonarson H.H.; Bhoj E.J.
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review
2020-01-01 Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A.
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome
2020-01-01 Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B.
Prenatal phenotype in Beckwith-Wiedemann spectrum
2020-01-01 Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A
Esophageal duplication cyst in newborn
2020-01-01 Garofalo S.; Schleef J.; Guana R.; Suteu L.; Cortese M.G.; Carli D.; Ferrero Giovanni Battista; Gennari F.
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.
2019-01-01 Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
2019-01-01 Mussa, Alessandro; Duffy, Kelly A; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
2019-01-01 Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M.
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome
2019-01-01 Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
2019-01-01 Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A.
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization
2019-01-01 Carli D.; Ferrero G.B.; Mussa A.
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
2019-01-01 Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity
2019-01-01 Pavinato, L; Giorgio, E; Antona, V; Carli, D; Ranguin, K; Colson, C; De Rubeis, S; Pippucci, T; Dimartino, P; Scaramuzzino, M; Cardaropoli, S; Ciolfi, A; Radio, C; Buxbaum, J; Tartaglia, M; Brusco, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism | 2021 | Keller R.; Carli D.; Brighenti S.; Salerno L.; Biamino E.; Raino E.; Vitiello B.; Ferrero G.B. | |
| “Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” | 2021 | Tuli G.; Munarin J.; Mussa A.; Carli D.; Gastaldi R.; Borgia P.; Vigone M.C.; Abbate M.; Ferrero G.B.; De Sanctis L. | |
| Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
| BULLOUS PILOMATRIXOMA | 2020 | Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F. | |
| Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance | 2020 | Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A | |
| SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician | 2020 | Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A | |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients | 2020 | Bryant L.; Li D.; Cox S.G.; Marchione D.; Joiner E.F.; Wilson K.; Janssen K.; Lee P.; March M.E.; Nair D.; Sherr E.; Fregeau B.; Wierenga K.J.; Wadley A.; Mancini G.M.S.; Powell-Hamilton N.; van de Kamp J.; Grebe T.; Dean J.; Ross A.; Crawford H.P.; Powis Z.; Cho M.T.; Willing M.C.; Manwaring L.; Schot R.; Nava C.; Afenjar A.; Lessel D.; Wagner M.; Klopstock T.; Winkelmann J.; Catarino C.B.; Retterer K.; Schuette J.L.; Innis J.W.; Pizzino A.; Luttgen S.; Denecke J.; Strom T.M.; Monaghan K.G.; Yuan Z.-F.; Dubbs H.; Bend R.; Lee J.A.; Lyons M.J.; Hoefele J.; Gunthner R.; Reutter H.; Keren B.; Radtke K.; Sherbini O.; Mrokse C.; Helbig K.L.; Odent S.; Cogne B.; Mercier S.; Bezieau S.; Besnard T.; Kury S.; Redon R.; Reinson K.; Wojcik M.H.; Ounap K.; Ilves P.; Innes A.M.; Kernohan K.D.; Costain G.; Meyn M.S.; Chitayat D.; Zackai E.; Lehman A.; Kitson H.; Martin M.G.; Martinez-Agosto J.A.; Nelson S.F.; Palmer C.G.S.; Papp J.C.; Parker N.H.; Sinsheimer J.S.; Vilain E.; Wan J.; Yoon A.J.; Zheng A.; Brimble E.; Ferrero G.B.; Radio F.C.; Carli D.; Barresi S.; Brusco A.; Tartaglia M.; Thomas J.M.; Umana L.; Weiss M.M.; Gotway G.; Stuurman K.E.; Thompson M.L.; McWalter K.; Stumpel C.T.R.M.; Stevens S.J.C.; Stegmann A.P.A.; Tveten K.; Vollo A.; Prescott T.; Fagerberg C.; Laulund L.W.; Larsen M.J.; Byler M.; Lebel R.R.; Hurst A.C.; Dean J.; Schrier Vergano S.A.; Norman J.; Mercimek-Andrews S.; Neira J.; Van Allen M.I.; Longo N.; Sellars E.; Louie R.J.; Cathey S.S.; Brokamp E.; Heron D.; Snyder M.; Vanderver A.; Simon C.; de la Cruz X.; Padilla N.; Crump J.G.; Chung W.; Garcia B.; Hakonarson H.H.; Bhoj E.J. | |
| New insights into potocki-shaffer syndrome: Report of two novel cases and literature review | 2020 | Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A. | |
| Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome | 2020 | Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B. | |
| Prenatal phenotype in Beckwith-Wiedemann spectrum | 2020 | Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A | |
| Esophageal duplication cyst in newborn | 2020 | Garofalo S.; Schleef J.; Guana R.; Suteu L.; Cortese M.G.; Carli D.; Ferrero Giovanni Battista; Gennari F. | |
| Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. | 2019 | Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB | |
| Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome | 2019 | Mussa, Alessandro; Duffy, Kelly A; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M | |
| The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum | 2019 | Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M. | |
| Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome | 2019 | Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista | |
| Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome | 2019 | Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A. | |
| Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization | 2019 | Carli D.; Ferrero G.B.; Mussa A. | |
| NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations | 2019 | Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
| Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity | 2019 | Pavinato, L; Giorgio, E; Antona, V; Carli, D; Ranguin, K; Colson, C; De Rubeis, S; Pippucci, T; Dimartino, P; Scaramuzzino, M; Cardaropoli, S; Ciolfi, A; Radio, C; Buxbaum, J; Tartaglia, M; Brusco, A |
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