BRUSCO, Alfredo
BRUSCO, Alfredo
NEUROSCIENZE "RITA LEVI MONTALCINI"
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
2012-01-01 Belligni, ELGA FABIA; DI GREGORIO, Eleonora; Biamino, Elisa; Calcia, Alessandro; Molinatto, Cristina; Talarico, Flavia; Ferrero, Giovanni Battista; Brusco, Alfredo; Cirillo, Margherita
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion
2014-01-01 D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco
A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family
2010-01-01 A.Brussino; E. Di Gregorio; G.Vaula; D.Lacerenza; M.Seri; N.Migone; A.Brusco.
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
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
2012-01-01 Giorgio E; Robyr D; Di Gregorio E; Lacerenza D; Vaula G; Brusco A; Antonarakis SE; Brussino A
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
2017-01-01 Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
2013-01-01 Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco
A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region
2011-01-01 Cavalieri S; Gatti RA; Brusco A
A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region
2011-01-01 Cavalieri S; Gatti R; Brusco A
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations
2010-01-01 Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
2019-01-01 Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro
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
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients
2011-01-01 Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; 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
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
2015-01-01 Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1
2013-01-01 E. Giorgio; D. Robyr; E. Di Gregorio; D. Lacerenza; G. Vaula; D. Imperiale; C. Atzori; A. Brusco; S. Antonarakis; A. Brussino
A large TSC2 and PKD1 gene deletion is associated with renal and extra-renal signs of the autosomal dominant polycystic kidney disease.
1997-01-01 LONGA L; SCOLARI F; BRUSCO A; CARBONARA C; POLIDORO S; VALZORIO B; RIEGLER P; MIGONE N; MAIORCA R
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
2002-01-01 Saviozzi, Silvia; Saluto, Alessandro; Taylor, Amr; Last, Jil; Trebini, F; Paradiso, Mc; Grosso, Enrico; Funaro, Ada; Ponzio, Giorgio; Migone, Nicola; Brusco, Alfredo
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
2014-01-01 Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A
A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1
2009-01-01 Turcotte Gauthier M; Nguyen DK; Meloche C; Poirier J; Girard SL; Forlani S; Di Gregorio E; Borroni B; De Michele G; Filla A; Verbeek D; Van de Warrenburg BPC; Drouin CA; Durr A; Brice A; Stevanin G; Brusco A; Cossette P
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism | 2012 | Belligni, ELGA FABIA; DI GREGORIO, Eleonora; Biamino, Elisa; Calcia, Alessandro; Molinatto, Cristina; Talarico, Flavia; Ferrero, Giovanni Battista; Brusco, Alfredo; Cirillo, Margherita | |
| 9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion | 2014 | D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco | |
| A "Position Effect” Involved In The Pathogenesis Of Autosomal Dominant Leukodystrophy Linked To Chromosome 5q21-q23 In An Italian Family | 2010 | A.Brussino; E. Di Gregorio; G.Vaula; D.Lacerenza; M.Seri; N.Migone; A.Brusco. | |
| 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 | |
| A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY | 2012 | Giorgio E; Robyr D; Di Gregorio E; Lacerenza D; Vaula G; Brusco A; Antonarakis SE; Brussino A | |
| A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q | 2017 | Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo | |
| A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia | 2013 | Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco | |
| A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region | 2011 | Cavalieri S; Gatti RA; Brusco A | |
| A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region | 2011 | Cavalieri S; Gatti R; Brusco A | |
| A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations | 2010 | Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A | |
| A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants | 2019 | Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro | |
| 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 | |
| A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients | 2011 | Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; 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 | |
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) | 2015 | Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo | |
| A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 | 2013 | E. Giorgio; D. Robyr; E. Di Gregorio; D. Lacerenza; G. Vaula; D. Imperiale; C. Atzori; A. Brusco; S. Antonarakis; A. Brussino | |
| A large TSC2 and PKD1 gene deletion is associated with renal and extra-renal signs of the autosomal dominant polycystic kidney disease. | 1997 | LONGA L; SCOLARI F; BRUSCO A; CARBONARA C; POLIDORO S; VALZORIO B; RIEGLER P; MIGONE N; MAIORCA R | |
| A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. | 2002 | Saviozzi, Silvia; Saluto, Alessandro; Taylor, Amr; Last, Jil; Trebini, F; Paradiso, Mc; Grosso, Enrico; Funaro, Ada; Ponzio, Giorgio; Migone, Nicola; Brusco, Alfredo | |
| A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. | 2014 | Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A | |
| A new locus for pure Spinocerebellar Ataxia associated with Erythrokeratodermia maps to chromosome 6p12.3-16.1 | 2009 | Turcotte Gauthier M; Nguyen DK; Meloche C; Poirier J; Girard SL; Forlani S; Di Gregorio E; Borroni B; De Michele G; Filla A; Verbeek D; Van de Warrenburg BPC; Drouin CA; Durr A; Brice A; Stevanin G; Brusco A; Cossette P |