Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate with DNMT1 Gene Methylation Levels

por Coppedè, Fabio, Stoccoro, Andrea, Tannorella, Pierpaola, Migliore, Lucia
Publicado 2019

Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels

por Coppedè, Fabio, Stoccoro, Andrea, Tannorella, Pierpaola, Gallo, Roberta, Nicolì, Vanessa, Migliore, Lucia
Publicado 2019

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians

por Coppedè, Fabio, Tannorella, Pierpaola, Tognoni, Gloria, Bagnoli, Silvia, Bongioanni, Paolo, Nacmias, Benedetta, Siciliano, Gabriele, Sorbi, Sandro, Bonuccelli, Ubaldo, Migliore, Lucia
Publicado 2014

Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

por Vimercati, Alessandro, Tannorella, Pierpaola, Orlandini, Eleonora, Calzari, Luciano, Moro, Mirella, Guzzetti, Sara, Selicorni, Angelo, Crippa, Milena, Larizza, Lidia, Bonati, Maria Teresa, Russo, Silvia
Publicado 2023

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

por Tannorella, Pierpaola, Calzari, Luciano, Daolio, Cecilia, Mainini, Ester, Vimercati, Alessandro, Gentilini, Davide, Soli, Fiorenza, Pedrolli, Annalisa, Bonati, Maria Teresa, Larizza, Lidia, Russo, Silvia
Publicado 2022

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

por Pensato, Viviana, Magri, Stefania, Dalla Bella, Eleonora, Tannorella, Pierpaola, Bersano, Enrica, Sorarù, Gianni, Gatti, Marta, Ticozzi, Nicola, Taroni, Franco, Lauria, Giuseppe, Mariotti, Caterina, Gellera, Cinzia
Publicado 2020

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

por Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia
Publicado 2021

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

por Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R., Tümer, Zeynep
Publicado 2022

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

por Luca, Maria, Carli, Diana, Cardaropoli, Simona, Milani, Donatella, Cocchi, Guido, Leoni, Chiara, Macchiaiolo, Marina, Bartuli, Andrea, Tarani, Luigi, Melis, Daniela, Bontempo, Piera, D’Elia, Gemma, Prada, Elisabetta, Vitale, Raffaele, Grammegna, Angelina, Tannorella, Pierpaola, Sparago, Angela, Pignata, Laura, Riccio, Andrea, Russo, Silvia, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2023

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

por Carli, Diana, Operti, Matteo, Russo, Silvia, Cocchi, Guido, Milani, Donatella, Leoni, Chiara, Prada, Elisabetta, Melis, Daniela, Falco, Mariateresa, Spina, Jennifer, Uliana, Vera, Sara, Osimani, Sirchia, Fabio, Tarani, Luigi, Macchiaiolo, Marina, Cerrato, Flavia, Sparago, Angela, Pignata, Laura, Tannorella, Pierpaola, Cardaropoli, Simona, Bartuli, Andrea, Riccio, Andrea, Ferrero, Giovanni Battista, Mussa, Alessandro
Publicado 2022

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

por Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, de Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R., Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, de Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas
Publicado 2022