Paolo Enrico Maltese (Paolo E Maltese)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 30

Top Venues

International journal of molecular sciences

Journal of clinical medicine

Diagnostics (Basel, Switzerland)

Genes

Università degli Studi di Urbino Carlo Bo Scuola di Farmacia (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Università degli Studi di Urbino Carlo Bo Scuola di Farmacia

Italy

PHD :: Scuola di Farmacia

Publications

Fabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D'Alcamo
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. Medicina (Kaunas, Lithuania) 60 (2) (2024)
Fabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D'Alcamo
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. Medicina (Kaunas, Lithuania) 60 (2) (2024)
Fabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D'Alcamo
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily. Medicina (Kaunas, Lithuania) 60 (2) (2024)
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel, Switzerland) 13 (5) (2023)
Rossella Cannarella, Carmelo Gusmano, Rosita Angela Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo Eugenio Calogero
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 24 (8) (2023)
Rossella Cannarella, Carmelo Gusmano, Rosita Angela Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo Eugenio Calogero
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 24 (8) (2023)
Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations. Genes 14 (8) (2023)
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel, Switzerland) 13 (5) (2023)
Rossella Cannarella, Carmelo Gusmano, Rosita Angela Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo Eugenio Calogero
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 24 (8) (2023)
Rossella Cannarella, Marco Musmeci, Vincenzo Garofalo, Tiziana A Timpanaro, Guido Leone, Manuela Caruso, Paolo Enrico Maltese, Rosita Angela Condorelli, Sandro La Vignera, Aldo Eugenio Calogero
Resistance to Thyroid Hormones: A Case-Series Study. International journal of molecular sciences 23 (19) (2022)
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Alfonso Merrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Çerkez Ergoren, Matteo Bertelli
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Journal of clinical medicine 11 (24) (2022)
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Alfonso Merrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Çerkez Ergoren, Matteo Bertelli
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Journal of clinical medicine 11 (24) (2022)
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Alfonso Merrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Çerkez Ergoren, Matteo Bertelli
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Journal of clinical medicine 11 (24) (2022)
Gabriele Bonetti, Stefano Paolacci, Michele Samaja, Paolo Enrico Maltese, Sandro Michelini, Serena Michelini, Silvia Michelini, Maurizio Ricci, Marina Cestari, Astrit Dautaj, Maria Chiara Medori, Matteo Bertelli
Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways. International journal of molecular sciences 23 (13) (2022)
Sandro Michelini, Karen L Herbst, Vincenza Precone, Elena Manara, Giuseppe Marceddu, Astrit Dautaj, Paolo Enrico Maltese, Stefano Paolacci, Maria Rachele Ceccarini, Tommaso Beccari, Elisa Sorrentino, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Lucilla Gagliardi, Giacinto Abele Donato Miggiano, Matteo Bertelli
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy. Journal of personalized medicine 12 (2) (2022)
Gabriele Bonetti, Kristjana Dhuli, Maria Rachele Ceccarini, Jurgen Kaftalli, Michele Samaja, Vincenza Precone, Stefano Cecchin, Paolo Enrico Maltese, Giulia Guerri, Giuseppe Marceddu, Tommaso Beccari, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Marco Alfonso Merrone, Amerigo Iaconelli, Francesca Colombo, Francesco Greco, Marco Raffaelli, Mahmut Çerkez Ergoren, Matteo Bertelli
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity. Journal of clinical medicine 11 (24) (2022)
Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin, Stefano Paolacci, Jan Miertus, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Liborio Stuppia, Marco Castori, Giuseppe Marceddu
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting. Genes 12 (12) (2021)
Amedeo Biasi, Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Antonio Mattia Modarelli, Matteo Bertelli, Leonardo Colombo, Daniele Dell'Orco
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. International journal of molecular sciences 22 (19) (2021)
Giancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, Paolo Enrico Maltese, Lorenzo Sinibaldi, Alessandro Cappelli, Sarah Cetola, Antonio Novelli, Luca Buzzonetti
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes. International journal of molecular sciences 22 (16) (2021)
Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Giorgio Placidi, Elisa De Siena, Benedetto Falsini, Matteo Bertelli, Daniele Dell'Orco
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells. International journal of molecular sciences 22 (8) (2021)
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters. Molecular genetics & genomic medicine 9 (4) (2021)
Benedetto Falsini, Giorgio Placidi, Elisa De Siena, Maria Cristina Savastano, Angelo Maria Minnella, Martina Maceroni, Giulia Midena, Lucia Ziccardi, Vincenzo Parisi, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Stanislao Rizzo
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations. Genes 12 (5) (2021)
Sandro Michelini, Pietro Chiurazzi, Valerio Marino, Daniele Dell'Orco, Elena Manara, Mirko Baglivo, Alessandro Fiorentino, Paolo Enrico Maltese, Michele Pinelli, Karen Louise Herbst, Astrit Dautaj, Matteo Bertelli
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema. International journal of molecular sciences 21 (17) (2020)
Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D'Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell'Orco, Matteo Bertelli
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. International journal of molecular sciences 22 (1) (2020)
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
A very early diagnosis of Alstrӧm syndrome by next generation sequencing. BMC medical genetics 21 (1) (2020)
Paolo Enrico Maltese, Sandro Michelini, Maurizio Ricci, Silvia Maitz, Alessandro Fiorentino, Roberta Serrani, Alessandra Lazzerotti, Alice Bruson, Stefano Paolacci, Sabrina Benedetti, Matteo Bertelli
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. American journal of medical genetics. Part A 179 (9) (2019)
Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D'Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology. Journal of translational medicine 17 (1) (2019)
Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Buzzonetti Luca, Lucia Ziccardi
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. Journal of ophthalmology 2017 (2017)
Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Buzzonetti Luca, Lucia Ziccardi
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy". Journal of ophthalmology 2017 (2017)

Paolo Enrico Maltese.css-eqlu8i{font-size:small;padding-left:4px;} (Paolo E Maltese)

Publication Activity (10 Years)

Top Topics

Top Venues

Paolo Enrico Maltese (Paolo E Maltese)