Sfoglia per Autore
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
2023-01-01 Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte
HUMAN IPSCS-DERIVED OLIGODENDROCYTES AND ASTROCYTES: A MODEL FOR AUTOSOMAL DOMINANT LEUKODYSTROPHY
2022-01-01 Elena SIGNORINO, Martina LORENZATI, Marta RIBODINO, Ersilia NICORVO, Piercesare GRIMALDI, Luciano CONTI, Pietro CORTELLI, Paola BERCHIALLA, Elisa GIORGIO, Annalisa BUFFO
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease
2022-01-01 Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B.
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
2022-01-01 Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris A L M; Feitz, Wouter F J; Marcelis, Carlo L M; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie M Y; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022-01-01 Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study
2022-01-01 Rubino E.; Boschi S.; Giorgio E.; Pozzi E.; Marcinno' A.; Gallo E.; Roveta F.; Grassini A.; Brusco A.; Rainero I.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2022-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
2021-01-01 Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio
Human iPSCs-derived oligodendrocytes and astrocytes as the first Autosomal Dominant Leukodistrophy-relevant cellular models
2021-01-01 Lorenzati Martina, Ribodino Marta, Signorino Elena, Conti Luciano, Cortelli Paolo, Giorgio Elisa, Buffo Annalisa
Functional and clinical implications of genetic structure in 1686 Italian exomes
2021-01-01 Birolo, Giovanni; Aneli, Serena; Di Gaetano, Cornelia; Cugliari, Giovanni; Russo, Alessia; Allione, Alessandra; Casalone, Elisabetta; Giorgio, Elisa; Paraboschi, Elvezia Maria; Ardissino, Diego; Duga, Stefano; Asselta, Rosanna; Matullo, Giuseppe
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
2021-01-01 Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
2021-01-01 Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes
2021-01-01 Birolo G.; Benevenuta S.; Fariselli P.; Capriotti E.; Giorgio E.; Sanavia T.
Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review
2021-01-01 Nardello R.; Mangano G.D.; Antona V.; Fontana A.; Striano P.; Giorgio E.; Brusco A.; Mangano S.; Salpietro V.
DLG4-related synaptopathy: a new rare brain disorder
2021-01-01 Rodriguez-Palmero A.; Boerrigter M.M.; Gomez-Andres D.; Aldinger K.A.; Marcos-Alcalde I.; Popp B.; Everman D.B.; Lovgren A.K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A.-M.; Bjerregaard V.A.; Bruel A.-L.; Challman T.D.; Cogne B.; Coubes C.; de Man S.A.; Denomme-Pichon A.-S.; Dye T.J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T.B.; Haldeman-Englert C.R.; Haukanes B.I.; Hoyer J.; Hurst A.C.E.; Isidor B.; Soller M.J.; Kushary S.; Kvarnung M.; Landau Y.E.; Leppig K.A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B.A.; Moghadasi S.; Morton J.E.; Moutton S.; Muller A.J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M.J.; Ruivenkamp C.A.L.; Sarrazin E.; Savatt J.M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J.T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F.T.; van Bon B.; van de Burgt I.; van de Laar I.M.B.H.; van Drie E.; van Haelst M.M.; van Ravenswaaij-Arts C.M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C.E.; de Vries B.B.A.; Dobyns W.B.; Reiter S.F.; Gomez-Puertas P.; Pujol A.; Tumer Z.
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
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
2020-01-01 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020-01-01 Piro E.; Serra G.; Antona V.; Giuffre M.; Giorgio E.; Sirchia F.; Schierz I.A.M.; Brusco A.; Corsello G.
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
2020-01-01 Antona, Vincenzo; Scalia, Federica; Giorgio, Elisa; Radio, Francesca C; Brusco, Alfredo; Oliveri, Massimiliano; Corsello, Giovanni; Lo Celso, Fabrizio; Vadalà, Maria; Conway de Macario, Everly; Macario, Alberto J L; Cappello, Francesco; Giuffrè, Mario
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report
2020-01-01 Nistico D.; Guidolin F.; Navarra C.O.; Bobbo M.; Magnolato A.; D'Adamo A.P.; Giorgio E.; Pivetta B.; Barbi E.; Gasparini P.; Cadenaro M.; Sirchia F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation | 2023 | Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte | |
| HUMAN IPSCS-DERIVED OLIGODENDROCYTES AND ASTROCYTES: A MODEL FOR AUTOSOMAL DOMINANT LEUKODYSTROPHY | 2022 | Elena SIGNORINO, Martina LORENZATI, Marta RIBODINO, Ersilia NICORVO, Piercesare GRIMALDI, Luciano CONTI, Pietro CORTELLI, Paola BERCHIALLA, Elisa GIORGIO, Annalisa BUFFO | |
| Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease | 2022 | Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B. | |
| A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy | 2022 | Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris A L M; Feitz, Wouter F J; Marcelis, Carlo L M; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie M Y; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko | |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism | 2022 | Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E | |
| Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study | 2022 | Rubino E.; Boschi S.; Giorgio E.; Pozzi E.; Marcinno' A.; Gallo E.; Roveta F.; Grassini A.; Brusco A.; Rainero I. | |
| Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | 2022 | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
| Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) | 2021 | Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio | |
| Human iPSCs-derived oligodendrocytes and astrocytes as the first Autosomal Dominant Leukodistrophy-relevant cellular models | 2021 | Lorenzati Martina, Ribodino Marta, Signorino Elena, Conti Luciano, Cortelli Paolo, Giorgio Elisa, Buffo Annalisa | |
| Functional and clinical implications of genetic structure in 1686 Italian exomes | 2021 | Birolo, Giovanni; Aneli, Serena; Di Gaetano, Cornelia; Cugliari, Giovanni; Russo, Alessia; Allione, Alessandra; Casalone, Elisabetta; Giorgio, Elisa; Paraboschi, Elvezia Maria; Ardissino, Diego; Duga, Stefano; Asselta, Rosanna; Matullo, Giuseppe | |
| Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review | 2021 | Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A. | |
| A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) | 2021 | Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo | |
| Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes | 2021 | Birolo G.; Benevenuta S.; Fariselli P.; Capriotti E.; Giorgio E.; Sanavia T. | |
| Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review | 2021 | Nardello R.; Mangano G.D.; Antona V.; Fontana A.; Striano P.; Giorgio E.; Brusco A.; Mangano S.; Salpietro V. | |
| DLG4-related synaptopathy: a new rare brain disorder | 2021 | Rodriguez-Palmero A.; Boerrigter M.M.; Gomez-Andres D.; Aldinger K.A.; Marcos-Alcalde I.; Popp B.; Everman D.B.; Lovgren A.K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A.-M.; Bjerregaard V.A.; Bruel A.-L.; Challman T.D.; Cogne B.; Coubes C.; de Man S.A.; Denomme-Pichon A.-S.; Dye T.J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T.B.; Haldeman-Englert C.R.; Haukanes B.I.; Hoyer J.; Hurst A.C.E.; Isidor B.; Soller M.J.; Kushary S.; Kvarnung M.; Landau Y.E.; Leppig K.A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B.A.; Moghadasi S.; Morton J.E.; Moutton S.; Muller A.J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M.J.; Ruivenkamp C.A.L.; Sarrazin E.; Savatt J.M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J.T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F.T.; van Bon B.; van de Burgt I.; van de Laar I.M.B.H.; van Drie E.; van Haelst M.M.; van Ravenswaaij-Arts C.M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C.E.; de Vries B.B.A.; Dobyns W.B.; Reiter S.F.; Gomez-Puertas P.; Pujol A.; Tumer Z. | |
| 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 | |
| A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? | 2020 | Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo | |
| Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient | 2020 | Piro E.; Serra G.; Antona V.; Giuffre M.; Giorgio E.; Sirchia F.; Schierz I.A.M.; Brusco A.; Corsello G. | |
| A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy | 2020 | Antona, Vincenzo; Scalia, Federica; Giorgio, Elisa; Radio, Francesca C; Brusco, Alfredo; Oliveri, Massimiliano; Corsello, Giovanni; Lo Celso, Fabrizio; Vadalà, Maria; Conway de Macario, Everly; Macario, Alberto J L; Cappello, Francesco; Giuffrè, Mario | |
| Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report | 2020 | Nistico D.; Guidolin F.; Navarra C.O.; Bobbo M.; Magnolato A.; D'Adamo A.P.; Giorgio E.; Pivetta B.; Barbi E.; Gasparini P.; Cadenaro M.; Sirchia F. |
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