Sfoglia per Autore
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al
2021-01-01 Resta N.; Calabrese O.; Grossi V.; Lugli L.; Simone C.; Ranieri C.; Piglionica M.; Lepore Signorile M.; Rossi K.; Carli D.; Mussa A.
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
2021-01-01 Carli, Diana; De Pellegrin, Maurizio; Franceschi, Luisa; Zinali, Federica; Paonessa, Matteo; Spolaore, Simone; Cardaropoli, Simona; Cravino, Mattia; Marcucci, Lorenzo; Andreacchio, Antonio; Resta, Nicoletta; Ferrero, Giovanni Battista; Mussa, Alessandro
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
2021-01-01 Quarello, Paola; Perotti, Daniela; Carli, Diana; Giorgio, Elisa; Sirchia, Fabio; Brusco, Alfredo; Ferrero, Giovanni Battista; Mussa, Alessandro; Spadea, Manuela; Ciceri, Sara; Spreafico, Filippo; Fagioli, Franca
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.
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.
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.
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.
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
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.
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
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
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
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
2019-01-01 Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F.
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization
2019-01-01 Carli D.; Ferrero G.B.; Mussa A.
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.
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.
Syndromic Disorders Caused by Disturbed Human Imprinting
2019-01-01 Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al | 2021 | Resta N.; Calabrese O.; Grossi V.; Lugli L.; Simone C.; Ranieri C.; Piglionica M.; Lepore Signorile M.; Rossi K.; Carli D.; Mussa A. | |
| Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth | 2021 | Carli, Diana; De Pellegrin, Maurizio; Franceschi, Luisa; Zinali, Federica; Paonessa, Matteo; Spolaore, Simone; Cardaropoli, Simona; Cravino, Mattia; Marcucci, Lorenzo; Andreacchio, Antonio; Resta, Nicoletta; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question | 2021 | Quarello, Paola; Perotti, Daniela; Carli, Diana; Giorgio, Elisa; Sirchia, Fabio; Brusco, Alfredo; Ferrero, Giovanni Battista; Mussa, Alessandro; Spadea, Manuela; Ciceri, Sara; Spreafico, Filippo; Fagioli, Franca | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| 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 | |
| BULLOUS PILOMATRIXOMA | 2020 | Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F. | |
| 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 | |
| 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 | |
| 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 | |
| Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus | 2019 | Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F. | |
| Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization | 2019 | Carli D.; Ferrero G.B.; Mussa A. | |
| 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. | |
| 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. | |
| Syndromic Disorders Caused by Disturbed Human Imprinting | 2019 | Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB |
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