BUKVIC, NENAD
BUKVIC, NENAD
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1
2018-01-01 Stella, Alessandro; Lastella, Patrizia; Loconte, Daria Carmela; Bukvic, Nenad; Varvara, Dora; Patruno, Margherita; Bagnulo, Rosanna; Lovaglio, Rosaura; Bartolomeo, Nicola; Serio, Gabriella; Resta, Nicoletta
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
2024-01-01 Bukvic, Nenad; De Rinaldis, Marta; Chetta, Massimiliano; Trabacca, Antonio; Teresa Bassi, Maria; Marsano, RENE' MASSIMILIANO; Holoubkova, Lenka; Rivieccio, Maria; Oro, Maria; Resta, Nicoletta; Kerkhof, Jennifer; Sadikovic, Bekim; Viggiano, Luigi
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache"
2016-01-01 Bukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, Nicoletta
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele
2024-01-01 Diana, Anna; Polizzi, Angela Maria; De Luisi, Annunziata; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Simonetti, Simonetta; Bukvic, Nenad; Iacoviello, Matteo; Bucci, Roberta; Gentile, Mattia; Resta, Nicoletta
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2022-01-01 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer
2023-01-01 Turchiano, Antonella; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Garganese, Antonella; De Luisi, Annunziata; Chirulli, Stefania; Iacoviello, Matteo; Stasi, Michele; Tabaku, Ornella; Meneleo, Eleonora; Capurso, Martina; Crocetta, Silvia; Lattarulo, Simone; Krylovska, Yevheniia; Lastella, Patrizia; Forleo, Cinzia; Stella, Alessandro; Bukvic, Nenad; Simone, Cristiano; Resta, Nicoletta
OSTEOGENIC DIFFERENTIATION AND GENE EXPRESSION OF DENTAL PULP STEM CELLS UNDER LOW-LEVEL LASER IRRADIATION: A GOOD PROMISE FOR TISSUE ENGINEERING.
2015-01-01 Ballini, Andrea; Mastrangelo, F.; Gastaldi, G.; Tettamanti, L.; Bukvic, Nenad; Cantore, Stefania; Cocco, Tiziana Maria; Saini, R.; Desiate, Apollonia; Gherlone, E.; Scacco, Salvatore
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein
2020-01-01 Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
2020-01-01 Leone, Maria Pia; Palumbo, Pietro; Palumbo, Orazio; Di Muro, Ester; Chetta, Massimiliano; Laforgia, Nicola; Resta, Nicoletta; Stella, Alessandro; Castellana, Stefano; Mazza, Tommaso; Castori, Marco; Carella, Massimo; Bukvic, Nenad
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis
2023-01-01 Bukvic, Nenad; Md, ; Massimiliano Chetta; Rosanna Bagnulo; Valentina Leotta; Antonino Pantaleo; ORAZIO PALUMBO; Pietro Palumbo; Maria Oro; Maria Rivieccio; nicola laforgia; Marta De Rinaldis; Alessandra Rosati; Jennifer Kerkhof; Bekim Sadikovic; Nicoletta Resta, Phd;
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 | 1-gen-2018 | Stella, Alessandro; Lastella, Patrizia; Loconte, Daria Carmela; Bukvic, Nenad; Varvara, Dora; Patruno, Margherita; Bagnulo, Rosanna; Lovaglio, Rosaura; Bartolomeo, Nicola; Serio, Gabriella; Resta, Nicoletta | |
| De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature | 1-gen-2024 | Bukvic, Nenad; De Rinaldis, Marta; Chetta, Massimiliano; Trabacca, Antonio; Teresa Bassi, Maria; Marsano, RENE' MASSIMILIANO; Holoubkova, Lenka; Rivieccio, Maria; Oro, Maria; Resta, Nicoletta; Kerkhof, Jennifer; Sadikovic, Bekim; Viggiano, Luigi | |
| Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" | 1-gen-2016 | Bukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, Nicoletta | |
| First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele | 1-gen-2024 | Diana, Anna; Polizzi, Angela Maria; De Luisi, Annunziata; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Simonetti, Simonetta; Bukvic, Nenad; Iacoviello, Matteo; Bucci, Roberta; Gentile, Mattia; Resta, Nicoletta | |
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants | 1-gen-2022 | Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta | |
| Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer | 1-gen-2023 | Turchiano, Antonella; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Garganese, Antonella; De Luisi, Annunziata; Chirulli, Stefania; Iacoviello, Matteo; Stasi, Michele; Tabaku, Ornella; Meneleo, Eleonora; Capurso, Martina; Crocetta, Silvia; Lattarulo, Simone; Krylovska, Yevheniia; Lastella, Patrizia; Forleo, Cinzia; Stella, Alessandro; Bukvic, Nenad; Simone, Cristiano; Resta, Nicoletta | |
| OSTEOGENIC DIFFERENTIATION AND GENE EXPRESSION OF DENTAL PULP STEM CELLS UNDER LOW-LEVEL LASER IRRADIATION: A GOOD PROMISE FOR TISSUE ENGINEERING. | 1-gen-2015 | Ballini, Andrea; Mastrangelo, F.; Gastaldi, G.; Tettamanti, L.; Bukvic, Nenad; Cantore, Stefania; Cocco, Tiziana Maria; Saini, R.; Desiate, Apollonia; Gherlone, E.; Scacco, Salvatore | |
| The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein | 1-gen-2020 | Laforgia, N.; De Cosmo, L.; Palumbo, O.; Ranieri, C.; Sesta, M.; Capodiferro, D.; Pantaleo, A.; Iapicca, P.; Lastella, P.; Capozza, M.; Schettini, F.; Bukvic, N.; Bagnulo, R.; Resta, N. | |
| The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate | 1-gen-2020 | Leone, Maria Pia; Palumbo, Pietro; Palumbo, Orazio; Di Muro, Ester; Chetta, Massimiliano; Laforgia, Nicola; Resta, Nicoletta; Stella, Alessandro; Castellana, Stefano; Mazza, Tommaso; Castori, Marco; Carella, Massimo; Bukvic, Nenad | |
| What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis | 1-gen-2023 | Bukvic, Nenad; Md, ; Massimiliano Chetta; Rosanna Bagnulo; Valentina Leotta; Antonino Pantaleo; ORAZIO PALUMBO; Pietro Palumbo; Maria Oro; Maria Rivieccio; nicola laforgia; Marta De Rinaldis; Alessandra Rosati; Jennifer Kerkhof; Bekim Sadikovic; Nicoletta Resta, Phd; |