MAGNOLO, Antonia Lucia
MAGNOLO, Antonia Lucia
Dipartimento di Scienze della Vita
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia
2007 Di Leo, E; Magnolo, Antonia Lucia; Lancellotti, Sandra; Crocè, L; Visintin, L; Tiribelli, C; Bertolini, S; CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria
Characterization of Three Kindreds with Familial Combined Hypolipidemia Due to Loss of Function Mutations of ANGPTL3.
2012 Pisciotta, L; Favari, E; Magnolo, Antonia Lucia; Simonelli, S; Adorni, Mp; Sallo, R; Fancello, Tatiana; Zavaroni, I; Ardigò, D; Bernini, F; Calabresi, L; Franceschini, G; Tarugi, Patrizia Maria; CALANDRA BUONAURA, Sebastiano; Bertolini, S.
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia
2009 M., Najah; E., Di Leo; J., Awatef; Magnolo, Antonia Lucia; J., Imene; Pinotti, Elisa; M., Bahri; S., Barsaoui; I., Brini; M., Fekih; M. N., Slimane; Tarugi, Patrizia Maria
Molecular diagnosis of hypobetalipoproteinemia: an ENID Review
2007 Tarugi, Patrizia Maria; Averna, M; DI LEO, E; Cefalù, Ab; Noto, D; Magnolo, Antonia Lucia; Cattin, L; Bertolini, S; CALANDRA BUONAURA, Sebastiano
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
2012 Conca, P; Pileggi, S; Simonelli, S; Boer, E; Boscutti, G; Magnolo, Antonia Lucia; Tarugi, Patrizia Maria; Penco, S; Franceschini, G; Calabresi, L; Gomaraschi, M.
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
2013 Magnolo, Antonia Lucia; Najah, M; Fancello, Tatiana; Di Leo, E; Pinotti, Elisa; Brini, I; Gueddiche, Nm; CALANDRA BUONAURA, Sebastiano; Slimene, Nm; Tarugi, Patrizia Maria
Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia
2009 CEFALÙ, AB; NOTO, D; MAGNOLO, Antonia Lucia; PINOTTI, Elisa; GOMARASCHI, M; MARTINI, S; VIGNA, GB; CALABRESI, L; TARUGI, Patrizia Maria; AVERNA, MR
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
2015 DI LEO, Enza; Eminoglu, Tuba; Magnolo, Antonia Lucia; Bolkent, Musa Gökalp; Tümer, Leyla; Okur, Ilyas; Tarugi, Patrizia Maria
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations
2008 E., Di Leo E; Magnolo, Antonia Lucia; Bertolotti, Marco; M., Bourbon; S., Carmo Pereira; M., Pirisi; CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia | 1-gen-2007 | Di Leo, E; Magnolo, Antonia Lucia; Lancellotti, Sandra; Crocè, L; Visintin, L; Tiribelli, C; Bertolini, S; CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria | |
Characterization of Three Kindreds with Familial Combined Hypolipidemia Due to Loss of Function Mutations of ANGPTL3. | 1-gen-2012 | Pisciotta, L; Favari, E; Magnolo, Antonia Lucia; Simonelli, S; Adorni, Mp; Sallo, R; Fancello, Tatiana; Zavaroni, I; Ardigò, D; Bernini, F; Calabresi, L; Franceschini, G; Tarugi, Patrizia Maria; CALANDRA BUONAURA, Sebastiano; Bertolini, S. | |
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia | 1-gen-2009 | M., Najah; E., Di Leo; J., Awatef; Magnolo, Antonia Lucia; J., Imene; Pinotti, Elisa; M., Bahri; S., Barsaoui; I., Brini; M., Fekih; M. N., Slimane; Tarugi, Patrizia Maria | |
Molecular diagnosis of hypobetalipoproteinemia: an ENID Review | 1-gen-2007 | Tarugi, Patrizia Maria; Averna, M; DI LEO, E; Cefalù, Ab; Noto, D; Magnolo, Antonia Lucia; Cattin, L; Bertolini, S; CALANDRA BUONAURA, Sebastiano | |
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. | 1-gen-2012 | Conca, P; Pileggi, S; Simonelli, S; Boer, E; Boscutti, G; Magnolo, Antonia Lucia; Tarugi, Patrizia Maria; Penco, S; Franceschini, G; Calabresi, L; Gomaraschi, M. | |
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. | 1-gen-2013 | Magnolo, Antonia Lucia; Najah, M; Fancello, Tatiana; Di Leo, E; Pinotti, Elisa; Brini, I; Gueddiche, Nm; CALANDRA BUONAURA, Sebastiano; Slimene, Nm; Tarugi, Patrizia Maria | |
Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia | 1-gen-2009 | CEFALÙ, AB; NOTO, D; MAGNOLO, Antonia Lucia; PINOTTI, Elisa; GOMARASCHI, M; MARTINI, S; VIGNA, GB; CALABRESI, L; TARUGI, Patrizia Maria; AVERNA, MR | |
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations | 1-gen-2015 | DI LEO, Enza; Eminoglu, Tuba; Magnolo, Antonia Lucia; Bolkent, Musa Gökalp; Tümer, Leyla; Okur, Ilyas; Tarugi, Patrizia Maria | |
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations | 1-gen-2008 | E., Di Leo E; Magnolo, Antonia Lucia; Bertolotti, Marco; M., Bourbon; S., Carmo Pereira; M., Pirisi; CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria |