DALLA PICCOLA, Bruno
DALLA PICCOLA, Bruno
DIPARTIMENTO DI MEDICINA SPERIMENTALE
22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system
2006 Angelo, Restivo; Anna, Sarkozy; Maria Cristina, Digilio; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno
A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago
1997 Francalanci, P; Gallo, Pietro; DALLA PICCOLA, Bruno; Calabrese, G; MARINO TAUSSIG DE BODONIA, Bruno
A novel family with un unusual early onset generalized distonia
2005 Fabbrini, Giovanni; Brancati, F.; Vacca, L.; Valente, E. M.; Nemeth, A.; Meesaq, A.; Sykes, N.; DALLA PICCOLA, Bruno; Berardelli, Alfredo
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
2004 Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; DALLA PICCOLA, Bruno
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
2013 Guida, V; Ferese, R; Rocchetti, M; Bonetti, M; Sarkozy, A; Cecchetti, S; Gelmetti, V; Lepri, F; Copetti, M; Lamorte, G; Digilio, Mc; MARINO TAUSSIG DE BODONIA, Bruno; Zaza, A; den Hertog, J; DALLA PICCOLA, Bruno; De Luca, A.
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome
2005 Versacci, P; DIGILIO M., C; Sauer, U; DALLA PICCOLA, B; MARINO TAUSSIG DE BODONIA, B.
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect
2006 Sarkozy, A; Lepri, F; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; Digilio, Mc; DALLA PICCOLA, Bruno
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology
2002 R., Santacroce; A., Ratti; F., Caroli; B., Foglieni; Alessandro, Ferraris; L., Cremonesi; M., Margaglione; M., Seri; R., Ravazzolo; G., Restagno; DALLA PICCOLA, Bruno; E., Rappaport; E. S., Pollak; S., Surrey; M., Ferrari; Fortina, Paolo
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
2007 J., Clarimon; Francesco, Brancati; E., Peckham; E. M., Valente; DALLA PICCOLA, Bruno; G., Abruzzese; P., Girlanda; G., Defazio; Berardelli, Alfredo; M., Hallett; A. B., Singleton
Association of Di George anomaly and caudal dysplasia sequence in neonate born to a diabetic mother.
2013 Dentici, Ml; Placidi, S; Francalanci, P; Capolino, R; Rinelli, G; MARINO TAUSSIG DE BODONIA, Bruno; Digilio, Mc; DALLA PICCOLA, Bruno
Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes
2011 Digilio, Mc; Versacci, P; Lepri, F; Baban, A; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction
2012 Digilio, Mc; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno
Atrioventricular canal defect in patients with RASopathies
2013 Maria Cristina Digilio, ; Lepri, F. R.; Dentici, M. L.; Francesca Romana Lepri, ; Dentici, M. L.; Maria Lisa Dentici, ; Dentici, Lisa M.; Alex, Henderson; Anwar, Baban; Maria Cristina Roberti, ; Roberti, M. C.; Roberti, Cristina M.; Rossella, Capolino; Versacci, Paolo; Cecilia, Surace; Adriano, Angioni; Marco, Tartaglia; MARINO TAUSSIG DE BODONIA, Bruno; DALLA PICCOLA, Bruno; Bruno, Marino; Bruno, Dallapiccola
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome
2008 M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; DALLA PICCOLA, Bruno
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
2004 Casali, Carlo; E. M., Valente; E., Bertini; G., Montagna; C., Criscuolo; G., De Michele; M., Villanova; M., Damiano; Pierallini, Alberto; Francesco, Brancati; V., Scarano; A., Tessa; F., Cricchi; G. S., Grieco; M., Muglia; M., Carella; B., Martini; A., Rossi; Amabile, Giuseppe Amadio; Nappi, Giuseppe; A., Filla; DALLA PICCOLA, Bruno; F. M., Santorelli
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
2004 A., Sarkozy; E., Conti; M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; E., Morini; G., Pacileo; M., Wilson; R., Calabro'; Pizzuti, Antonio; DALLA PICCOLA, Bruno
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
2007 Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno
Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene
2006 Annalisa, Schirinzi; Snezana, Drmanac; DALLA PICCOLA, Bruno; Steve, Huang; Kathryn, Scott; A., De Luca; Donald, Swanson; Radoje, Drmanac; Saul, Surrey; Fortina, Paolo
Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence
2001 Digilio, M. C.; Casey, B.; Toscano, A.; Calabro', R.; Pacileo, G.; Marasini, M.; Banaudi, E.; Giannotti, A.; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
2008 Digilio, Mc; Calzolari, F; Capolino, R; Toscano, A; Sarkozy, A; DE ZORZI, A; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system | 2006 | Angelo, Restivo; Anna, Sarkozy; Maria Cristina, Digilio; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno | |
| A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago | 1997 | Francalanci, P; Gallo, Pietro; DALLA PICCOLA, Bruno; Calabrese, G; MARINO TAUSSIG DE BODONIA, Bruno | |
| A novel family with un unusual early onset generalized distonia | 2005 | Fabbrini, Giovanni; Brancati, F.; Vacca, L.; Valente, E. M.; Nemeth, A.; Meesaq, A.; Sykes, N.; DALLA PICCOLA, Bruno; Berardelli, Alfredo | |
| A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome | 2004 | Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; DALLA PICCOLA, Bruno | |
| A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot | 2013 | Guida, V; Ferese, R; Rocchetti, M; Bonetti, M; Sarkozy, A; Cecchetti, S; Gelmetti, V; Lepri, F; Copetti, M; Lamorte, G; Digilio, Mc; MARINO TAUSSIG DE BODONIA, Bruno; Zaza, A; den Hertog, J; DALLA PICCOLA, Bruno; De Luca, A. | |
| Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome | 2005 | Versacci, P; DIGILIO M., C; Sauer, U; DALLA PICCOLA, B; MARINO TAUSSIG DE BODONIA, B. | |
| Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect | 2006 | Sarkozy, A; Lepri, F; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; Digilio, Mc; DALLA PICCOLA, Bruno | |
| Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology | 2002 | R., Santacroce; A., Ratti; F., Caroli; B., Foglieni; Alessandro, Ferraris; L., Cremonesi; M., Margaglione; M., Seri; R., Ravazzolo; G., Restagno; DALLA PICCOLA, Bruno; E., Rappaport; E. S., Pollak; S., Surrey; M., Ferrari; Fortina, Paolo | |
| Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm | 2007 | J., Clarimon; Francesco, Brancati; E., Peckham; E. M., Valente; DALLA PICCOLA, Bruno; G., Abruzzese; P., Girlanda; G., Defazio; Berardelli, Alfredo; M., Hallett; A. B., Singleton | |
| Association of Di George anomaly and caudal dysplasia sequence in neonate born to a diabetic mother. | 2013 | Dentici, Ml; Placidi, S; Francalanci, P; Capolino, R; Rinelli, G; MARINO TAUSSIG DE BODONIA, Bruno; Digilio, Mc; DALLA PICCOLA, Bruno | |
| Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes | 2011 | Digilio, Mc; Versacci, P; Lepri, F; Baban, A; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno | |
| Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and hedgehog signaling dysfunction | 2012 | Digilio, Mc; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno | |
| Atrioventricular canal defect in patients with RASopathies | 2013 | Maria Cristina Digilio, ; Lepri, F. R.; Dentici, M. L.; Francesca Romana Lepri, ; Dentici, M. L.; Maria Lisa Dentici, ; Dentici, Lisa M.; Alex, Henderson; Anwar, Baban; Maria Cristina Roberti, ; Roberti, M. C.; Roberti, Cristina M.; Rossella, Capolino; Versacci, Paolo; Cecilia, Surace; Adriano, Angioni; Marco, Tartaglia; MARINO TAUSSIG DE BODONIA, Bruno; DALLA PICCOLA, Bruno; Bruno, Marino; Bruno, Dallapiccola | |
| Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome | 2008 | M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; DALLA PICCOLA, Bruno | |
| Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum | 2004 | Casali, Carlo; E. M., Valente; E., Bertini; G., Montagna; C., Criscuolo; G., De Michele; M., Villanova; M., Damiano; Pierallini, Alberto; Francesco, Brancati; V., Scarano; A., Tessa; F., Cricchi; G. S., Grieco; M., Muglia; M., Carella; B., Martini; A., Rossi; Amabile, Giuseppe Amadio; Nappi, Giuseppe; A., Filla; DALLA PICCOLA, Bruno; F. M., Santorelli | |
| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome | 2004 | A., Sarkozy; E., Conti; M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; E., Morini; G., Pacileo; M., Wilson; R., Calabro'; Pizzuti, Antonio; DALLA PICCOLA, Bruno | |
| Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes | 2007 | Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno | |
| Combinatorial sequencing-by-hybridization: Analysis of the NF1 gene | 2006 | Annalisa, Schirinzi; Snezana, Drmanac; DALLA PICCOLA, Bruno; Steve, Huang; Kathryn, Scott; A., De Luca; Donald, Swanson; Radoje, Drmanac; Saul, Surrey; Fortina, Paolo | |
| Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence | 2001 | Digilio, M. C.; Casey, B.; Toscano, A.; Calabro', R.; Pacileo, G.; Marasini, M.; Banaudi, E.; Giannotti, A.; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno | |
| Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) | 2008 | Digilio, Mc; Calzolari, F; Capolino, R; Toscano, A; Sarkozy, A; DE ZORZI, A; DALLA PICCOLA, Bruno; MARINO TAUSSIG DE BODONIA, Bruno |