LAINO, LUIGI
LAINO, LUIGI
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
2024 Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella
An Additional Patient With 3q27.3 Microdeletion Syndrome.
2014 Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
2019 Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola
Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses
2015 Castori, M; Servadei, F; Laino, Luigi; Pascolini, Giulia; Fabbri, R; Cifani, Ae; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola; NIEVES FABBRI, RICARDO JOSÉ
c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors
2018 Corano Scheri, K; Leonetti, E; Laino, L; Gigantino, V; Gesualdi, L; Grammatico, P; Bizzari, M; Franco, R; Oosterhuis, Jw; Stoop, H; Looijenga, Lhj; Ricci, G; Catizone, A.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
2016 Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola
Congenital heart defects in the recurrent 2q13 deletion syndrome
2022 Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P.
Darier disease, multiple bone cysts and anidridi due to double de novo heterozygous mutations in ATP2A2 and PAX6.
2009 Castori, M; Barboni, L; Duncan, Pj; Paradisi, M; Laino, Luigi; DE BERNARDO, C; Robinson, Do; Grammatico, Paola
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
2014 Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance
2010 Marco, Castori; Cascone, Piero; Michele, Valiante; Laino, Luigi; Iannetti, Giorgio; Raoul C. M., Hennekam; Grammatico, Paola
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy
2020 Lipari, M.; Wypasek, E.; Karpinski, M.; Tomkiewicz-Pajak, L.; Laino, L.; Binni, F.; Giannarelli, D.; Rubis, P.; Petkow-Dimitrow, P.; Undas, A.; Grammatico, P.; Bottillo, I.
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
2010 Marco, Castori; Laino, Luigi; Vito, Briganti; Lucia, Pedace; Andrea, Zampini; Mario, Marconi; Barbara, Grammatico; Elsa, Buffone; Grammatico, Paola
Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry
2020 Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A; , ; Grammatico, P.
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
2014 Pedace, Lucia; Laino, Luigi; Nicoletta, Preziosi; Maria Stella, Valentini; Salvatore, Scommegna; Anna Maria, Rapone; Nino, Guarino; Brunetto, Boscherini; Carmelilia De, Bernardo; Giacinto, Marrocco; Silvia, Majore; Grammatico, Paola
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome
2014 Servadei, F; Laino, Luigi; Pediatric Craniofacial Malformation Study, Group; Grammatico, Paola; Castori, Marco; Polimeni, Antonella; Pizzuti, Antonio; Cascone, Piero; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
2013 Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
2020 Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P.
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16
2016 Castori, Marco; Bottillo, Irene; Morlino, Silvia; Barone, Chiara; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? | 2024 | Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella | |
| An Additional Patient With 3q27.3 Microdeletion Syndrome. | 2014 | Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola | |
| Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene | 2019 | Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola | |
| Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses | 2015 | Castori, M; Servadei, F; Laino, Luigi; Pascolini, Giulia; Fabbri, R; Cifani, Ae; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola; NIEVES FABBRI, RICARDO JOSÉ | |
| c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors | 2018 | Corano Scheri, K; Leonetti, E; Laino, L; Gigantino, V; Gesualdi, L; Grammatico, P; Bizzari, M; Franco, R; Oosterhuis, Jw; Stoop, H; Looijenga, Lhj; Ricci, G; Catizone, A. | |
| Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement | 2016 | Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola | |
| Congenital heart defects in the recurrent 2q13 deletion syndrome | 2022 | Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P. | |
| Darier disease, multiple bone cysts and anidridi due to double de novo heterozygous mutations in ATP2A2 and PAX6. | 2009 | Castori, M; Barboni, L; Duncan, Pj; Paradisi, M; Laino, Luigi; DE BERNARDO, C; Robinson, Do; Grammatico, Paola | |
| Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. | 2014 | Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola | |
| Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance | 2010 | Marco, Castori; Cascone, Piero; Michele, Valiante; Laino, Luigi; Iannetti, Giorgio; Raoul C. M., Hennekam; Grammatico, Paola | |
| Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy | 2020 | Lipari, M.; Wypasek, E.; Karpinski, M.; Tomkiewicz-Pajak, L.; Laino, L.; Binni, F.; Giannarelli, D.; Rubis, P.; Petkow-Dimitrow, P.; Undas, A.; Grammatico, P.; Bottillo, I. | |
| Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome | 2010 | Marco, Castori; Laino, Luigi; Vito, Briganti; Lucia, Pedace; Andrea, Zampini; Mario, Marconi; Barbara, Grammatico; Elsa, Buffone; Grammatico, Paola | |
| Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry | 2020 | Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A; , ; Grammatico, P. | |
| Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation. | 2014 | Pedace, Lucia; Laino, Luigi; Nicoletta, Preziosi; Maria Stella, Valentini; Salvatore, Scommegna; Anna Maria, Rapone; Nino, Guarino; Brunetto, Boscherini; Carmelilia De, Bernardo; Giacinto, Marrocco; Silvia, Majore; Grammatico, Paola | |
| Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome | 2014 | Servadei, F; Laino, Luigi; Pediatric Craniofacial Malformation Study, Group; Grammatico, Paola; Castori, Marco; Polimeni, Antonella; Pizzuti, Antonio; Cascone, Piero; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo | |
| Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report | 2013 | Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola | |
| Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion | 2020 | Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P. | |
| Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 | 2016 | Castori, Marco; Bottillo, Irene; Morlino, Silvia; Barone, Chiara; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati |