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Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3224, doi. 10.3390/ijms24043224
By:
- Di Taranto, Maria Donata;
- Fortunato, Giuliana
Publication type:
Article
Galectin-3 in Cardiovascular Diseases.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9232, doi. 10.3390/ijms21239232
By:
- Blanda, Valeria;
- Bracale, Umberto Marcello;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana
Publication type:
Article
Homocysteine levels and sustained virological response to pegylated-interferon α2b plus ribavirin therapy for chronic hepatitis C: a prospective study.
Published in:
Liver International, 2009, v. 29, n. 2, p. 248, doi. 10.1111/j.1478-3231.2008.01832.x
By:
- Borgia, Guglielmo;
- Gentile, Ivan;
- Fortunato, Giuliana;
- Borrelli, Francesco;
- Borelli, Salvatore;
- de Caterina, Maurizio;
- Di Taranto, Maria Donata;
- Simone, Maria;
- Borgia, Federico;
- Viola, Chiara;
- Reynaud, Laura;
- Cerini, Raimondo;
- Sacchetti, Lucia
Publication type:
Article
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 219, doi. 10.3390/jcm9010219
By:
- Di Taranto, Maria Donata;
- Giacobbe, Carola;
- Buonaiuto, Alessio;
- Calcaterra, Ilenia;
- Palma, Daniela;
- Maione, Giovanna;
- Iannuzzo, Gabriella;
- Di Minno, Matteo Nicola Dario;
- Rubba, Paolo;
- Fortunato, Giuliana
Publication type:
Article
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.1998
By:
- Giacobbe, Carola;
- Di Dato, Fabiola;
- Palma, Daniela;
- Amitrano, Michele;
- Iorio, Raffaele;
- Fortunato, Giuliana
Publication type:
Article
Sequence Analysis of the UCP1 Gene in a Severe Obese Population from Southern Italy.
Published in:
2011
By:
- Labruna, Giuseppe;
- Pasanisi, Fabrizio;
- Fortunato, Giuliana;
- Nardelli, Carmela;
- Finelli, Carmine;
- Farinaro, Eduardo;
- Contaldo, Franco;
- Sacchetti, Lucia
Publication type:
Journal Article
Sequence Analysis of the UCP1 Gene in a Severe Obese Population from Southern Italy.
Published in:
Journal of Obesity, 2011, v. 2011, p. 1, doi. 10.1155/2011/269043
By:
- Labruna, Giuseppe;
- Pasanisi, Fabrizio;
- Fortunato, Giuliana;
- Nardelli, Carmela;
- Finelli, Carmine;
- Farinaro, Eduardo;
- Contaldo, Franco;
- Sacchetti, Lucia
Publication type:
Article
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.
Published in:
Clinical Chemistry & Laboratory Medicine, 2014, v. 52, n. 8, p. e175, doi. 10.1515/cclm-2014-0144
By:
- Ruotolo, Anna;
- Di Taranto, Maria Donata;
- D'Agostino, Maria Nicoletta;
- Marotta, Gennaro;
- Gentile, Marco;
- Nunziata, Maria;
- Sodano, Marta;
- Di Noto, Rosa;
- Del Vecchio, Luigi;
- Rubba, Paolo;
- Fortunato, Giuliana
Publication type:
Article
Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.
Published in:
Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 12, p. 2211, doi. 10.1515/cclm-2013-0194
By:
- Maruotti, Giuseppe Maria;
- Frisso, Giulia;
- Calcagno, Giuseppe;
- Fortunato, Giuliana;
- Castaldo, Giuseppe;
- Martinelli, Pasquale;
- Sacchetti, Lucia;
- Salvatore, Francesco
Publication type:
Article
Cardiac troponin T and amino-terminal pro-natriuretic peptide concentrations in fetuses in the second trimester and in healthy neonates.
Published in:
Clinical Chemistry & Laboratory Medicine, 2006, v. 44, n. 7, p. 834, doi. 10.1515/CCLM.2006.144
By:
- Fortunato, Giuliana;
- Giarrusso, Patrizia Carandente;
- Martinelli, Pasquale;
- Sglavo, Gabriella;
- Vassallo, Michele;
- Tomeo, Luigi;
- Rea, Michelangelo;
- Paladini, Dario
Publication type:
Article
Identification of New Polymorphisms in the CACNA 1S Gene.
Published in:
Clinical Chemistry & Laboratory Medicine, 2003, v. 41, n. 1, p. 20, doi. 10.1515/CCLM.2003.004
By:
- Carsana, Antonella;
- Fortunato, Giuliana;
- De Sarno, Claudia;
- Brancadoro, Virginia;
- Salvatore, Francesco
Publication type:
Article
Targeting Nanostrategies for Imaging of Atherosclerosis.
Published in:
Contrast Media & Molecular Imaging, 2021, p. 1, doi. 10.1155/2021/6664471
By:
- Costagliola di Polidoro, Angela;
- Grassia, Agnese;
- De Sarno, Francesca;
- Bevilacqua, Paolo;
- Mollo, Valentina;
- Romano, Eugenia;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana;
- Bracale, Umberto Marcello;
- Tramontano, Liberatore;
- Diomaiuti, Tommaso Claudio;
- Torino, Enza
Publication type:
Article
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Published in:
Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1185, doi. 10.1007/s11011-016-9841-y
By:
- Di Taranto, Maria;
- Gelzo, Monica;
- Giacobbe, Carola;
- Gentile, Marco;
- Marotta, Gennaro;
- Savastano, Silvia;
- Dello Russo, Antonio;
- Fortunato, Giuliana;
- Corso, Gaetano
Publication type:
Article
Immunoglobulin complexed AST ("macro-AST") in an asymptomatic child with persistent hypertransaminasemia.
Published in:
1992
By:
- Vajro, Pietro;
- Lofrano, Maria Marinella;
- Fontanella, Angiola;
- Fortunato, Giuliana;
- Vajro, P;
- Lofrano, M M;
- Fontanella, A;
- Fortunato, G
Publication type:
journal article
B-Type Natriuretic Peptides and High-Sensitive Troponin I as COVID-19 Survival Factors: Which One Is the Best Performer?
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 12, p. 2726, doi. 10.3390/jcm10122726
By:
- de Falco, Renato;
- Vargas, Maria;
- Palma, Daniela;
- Savoia, Marcella;
- Miscioscia, Anna;
- Pinchera, Biagio;
- Vano, Martina;
- Servillo, Giuseppe;
- Gentile, Ivan;
- Fortunato, Giuliana
Publication type:
Article
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 2, p. 149, doi. 10.1038/sj.ejhg.5200428
By:
- Fortunato, Giuliana;
- Berruti, Renata;
- Brancadoro, Virginia;
- Fattore, Morena;
- Salvatore, Francesco;
- Carsana, Antonella
Publication type:
Article
A case of discordance between genotype and phenotype in a malignant hyperthermia family.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 4, p. 415, doi. 10.1038/sj.ejhg.5200314
By:
- Fortunato, Giuliana;
- Carsana, Antonella;
- Tinto, Nadia;
- Brancadoro, Virginia;
- Canfora, Giovanna;
- Salvatore, Francesco
Publication type:
Article
Long‐term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.
Published in:
Liver International, 2023, v. 43, n. 2, p. 413, doi. 10.1111/liv.15497
By:
- Larrey, Dominique;
- D'Erasmo, Laura;
- O'Brien, Sallyann;
- Arca, Marcello;
- Cefalù, Angelo Baldassare;
- Di Costanzo, Alessia;
- Bini, Simone;
- Giammanco, Antonina;
- Averna, Maurizio;
- Iannuzzo, Gabriella;
- Fortunato, Giuliana;
- Gentile, Marco;
- Di Taranto, Maria Donata;
- Pujia, Arturo;
- Montalcini, Tiziana;
- Pavanello, Chiara;
- Calabresi, Laura;
- Vigna, Giovanni Battista;
- Bucci, Marco;
- Bonomo, Katia
Publication type:
Article
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
Published in:
2021
By:
- D'Erasmo, Laura;
- Gallo, Antonio;
- Cefalù, Angelo Baldassare;
- Di Costanzo, Alessia;
- Saheb, Samir;
- Giammanco, Antonina;
- Averna, Maurizio;
- Buonaiuto, Alessio;
- Iannuzzo, Gabriella;
- Fortunato, Giuliana;
- Puja, Arturo;
- Montalcini, Tiziana;
- Pavanello, Chiara;
- Calabresi, Laura;
- Vigna, Giovanni Battista;
- Bucci, Marco;
- Bonomo, Katia;
- Nota, Fabio;
- Sampietro, Tiziana;
- Sbrana, Francesco
Publication type:
journal article
Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries.
Published in:
Clinical Chemistry, 2015, v. 61, n. 1, p. 231, doi. 10.1373/clinchem.2014.231365
By:
- Futema, Marta;
- Shah, Sonia;
- Cooper, Jackie A.;
- KaWah Li;
- Whittall, Ros A.;
- Sharifi, Mahtab;
- Goldberg, Olivia;
- Drogari, Euridiki;
- Mollaki, Vasiliki;
- Wiegman, Albert;
- Defesche, Joep;
- D'Agostino, Maria N.;
- D'Angelo, Antonietta;
- Rubba, Paolo;
- Fortunato, Giuliana;
- Waluś-Miarka, Małgorzata;
- Hegele, Robert A.;
- Bamimore, Mary Aderayo;
- Durst, Ronen;
- Leitersdorf, Eran
Publication type:
Article
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Published in:
European Journal of Preventive Cardiology, 2024, v. 31, n. 8, p. 1038, doi. 10.1093/eurjpc/zwae036
By:
- D'Erasmo, Laura;
- Bini, Simone;
- Casula, Manuela;
- Gazzotti, Marta;
- Bertolini, Stefano;
- Calandra, Sebastiano;
- Tarugi, Patrizia;
- Averna, Maurizio;
- Iannuzzo, Gabriella;
- Fortunato, Giuliana;
- Catapano, Alberico L;
- Arca, Marcello;
- group, LIPIGEN HoFH
Publication type:
Article
Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
Published in:
European Journal of Preventive Cardiology, 2017, v. 24, n. 10, p. 1051, doi. 10.1177/2047487317702040
By:
- Rubba, Paolo;
- Gentile, Marco;
- Marotta, Gennaro;
- Iannuzzi, Arcangelo;
- Sodano, Marta;
- De Simone, Biagio;
- Jossa, Fabrizio;
- Iannuzzo, Gabriella;
- Giacobbe, Carola;
- Di Taranto, Maria D;
- Fortunato, Giuliana
Publication type:
Article
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036
By:
- Di Taranto, Maria Donata;
- Giacobbe, Carola;
- Palma, Daniela;
- Iannuzzo, Gabriella;
- Gentile, Marco;
- Calcaterra, Ilenia;
- Guardamagna, Ornella;
- Auricchio, Renata;
- Di Minno, Matteo Nicola Dario;
- Fortunato, Giuliana
Publication type:
Article
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Published in:
Acta Neurologica Belgica, 2021, v. 121, n. 2, p. 561, doi. 10.1007/s13760-019-01267-4
By:
- Gelzo, Monica;
- Di Taranto, Maria Donata;
- Bisecco, Alvino;
- D'Amico, Alessandra;
- Capuano, Rocco;
- Giacobbe, Carola;
- Caputo, Mafalda;
- Cirillo, Mario;
- Tedeschi, Gioacchino;
- Fortunato, Giuliana;
- Corso, Gaetano
Publication type:
Article
Divergent expression of CD133 in different studies on HCT-116 cell line.
Published in:
International Journal of Cancer, 2011, v. 128, n. 4, p. 998, doi. 10.1002/ijc.25406
By:
- Gemei, Marica;
- Mirabelli, Peppino;
- Di Noto, Rosa;
- Fortunato, Giuliana;
- Del Vecchio, Luigi
Publication type:
Article
Assessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study.
Published in:
Biomedicines, 2024, v. 12, n. 9, p. 2017, doi. 10.3390/biomedicines12092017
By:
- Calcaterra, Ilenia Lorenza;
- Santoro, Renata;
- Vitelli, Nicoletta;
- Cirillo, Ferdinando;
- D'Errico, Guido;
- Guerrino, Cornelia;
- Cardiero, Giovanna;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana;
- Iannuzzo, Gabriella;
- Di Minno, Matteo Nicola Dario
Publication type:
Article
Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients.
Published in:
Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2554, doi. 10.3390/diagnostics12102554
By:
- Cardiero, Giovanna;
- Palma, Daniela;
- Vano, Martina;
- Anastasio, Claudia;
- Pinchera, Biagio;
- Ferrandino, Martina;
- Gianfico, Carlo;
- Gentile, Luca;
- Savoia, Marcella;
- Gentile, Ivan;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana
Publication type:
Article
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.832890
By:
- Iannuzzi, Arcangelo;
- Annunziata, Mario;
- Fortunato, Giuliana;
- Giacobbe, Carola;
- Palma, Daniela;
- Bresciani, Alessandro;
- Aliberti, Emilio;
- Iannuzzo, Gabriella
Publication type:
Article
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.832890
By:
- Iannuzzi, Arcangelo;
- Annunziata, Mario;
- Fortunato, Giuliana;
- Giacobbe, Carola;
- Palma, Daniela;
- Bresciani, Alessandro;
- Aliberti, Emilio;
- Iannuzzo, Gabriella
Publication type:
Article
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.
Published in:
Lipids in Health & Disease, 2019, v. 18, n. 1, p. 1, doi. 10.1186/s12944-019-1176-3
By:
- Gelzo, Monica;
- Di Taranto, Maria Donata;
- Sica, Concetta;
- Boscia, Antonio;
- Papagni, Francesco;
- Fortunato, Giuliana;
- Corso, Gaetano;
- Dello Russo, Antonio
Publication type:
Article
Periprocedural myocardial infarction in patients undergoing complex versus noncomplex percutaneous coronary intervention.
Published in:
Catheterization & Cardiovascular Interventions, 2023, v. 102, n. 2, p. 212, doi. 10.1002/ccd.30749
By:
- Piccolo, Raffaele;
- Leone, Attilio;
- Simonetti, Fiorenzo;
- Avvedimento, Marisa;
- Angellotti, Domenico;
- Manzi, Lina;
- Verde, Nicola;
- Spaccarotella, Carmen Anna Maria;
- Di Serafino, Luigi;
- Cirillo, Plinio;
- Gargiulo, Giuseppe;
- Fortunato, Giuliana;
- Franzone, Anna;
- Esposito, Giovanni
Publication type:
Article
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Published in:
Human Mutation, 2009, v. 30, n. 4, p. E575, doi. 10.1002/humu.20991
By:
- Zullo, Alberto;
- Klingler, Werner;
- De Sarno, Claudia;
- Ferrara, Marina;
- Fortunato, Giuliana;
- Perrotta, Giuseppa;
- Gravino, Elvira;
- Di Noto, Rosella;
- Lehmann-Horn, Frank;
- Melzer, Werner;
- Salvatore, Francesco;
- Carsana, Antonella
Publication type:
Article
Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.
Published in:
Genes, 2024, v. 15, n. 8, p. 1034, doi. 10.3390/genes15081034
By:
- Ferrandino, Martina;
- Cardiero, Giovanna;
- Di Dato, Fabiola;
- Cerrato, Ylenia;
- Vitagliano, Luigi;
- Mandato, Claudia;
- Morisco, Filomena;
- Spagnuolo, Maria Immacolata;
- Iorio, Raffaele;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana
Publication type:
Article
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.
Published in:
Genes, 2024, v. 15, n. 4, p. 462, doi. 10.3390/genes15040462
By:
- Cardiero, Giovanna;
- Ferrandino, Martina;
- Calcaterra, Ilenia Lorenza;
- Iannuzzo, Gabriella;
- Di Minno, Matteo Nicola Dario;
- Buganza, Raffaele;
- Guardamagna, Ornella;
- Auricchio, Renata;
- Di Taranto, Maria Donata;
- Fortunato, Giuliana
Publication type:
Article
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.
Published in:
Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 7, p. 1102, doi. 10.1515/cclm-2018-1037
By:
- Di Taranto, Maria Donata;
- de Falco, Renato;
- Guardamagna, Ornella;
- Massini, Giulia;
- Giacobbe, Carola;
- Auricchio, Renata;
- Malamisura, Basilio;
- Proto, Michela;
- Palma, Daniela;
- Greco, Luigi;
- Fortunato, Giuliana
Publication type:
Article
The percentage of CD133+ cells in humancolorectal cancer cell lines is influenced byMycoplasma hyorhinis infection.
Published in:
BMC Cancer, 2010, v. 10, p. 120, doi. 10.1186/1471-2407-10-120
By:
- Mariotti, Elisabetta;
- Gemei, Marica;
- Mirabelli, Peppino;
- D'Alessio, Francesca;
- Di Noto, Rosa;
- Fortunato, Giuliana;
- Del Vecchio, Luigi
Publication type:
Article

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