An unusual diagnosis for an usual test

por Trombetta, Andrea, Migliarino, Vanessa, Faletra, Flavio, Barbi, Egidio, Tornese, Gianluca
Publicado 2020

When salt is needed to grow: Questions

por Conversano, Ester, Romano, Sara, Taddio, Andrea, Faletra, Flavio, Zanon, Davide, Barbi, Egidio, Pennesi, Marco
Publicado 2020

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

por Tornese, Gianluca, Patti, Giuseppa, Pellegrin, Maria Chiara, Costa, Paola, Faletra, Flavio, Faleschini, Elena, Barbi, Egidio
Publicado 2020

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature

por Baldo, Francesco, Morra, Laura, Feresin, Agnese, Faletra, Flavio, Al Naber, Yasmin, Memo, Luigi, Travan, Laura
Publicado 2022

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

por Morgan, Anna, Faletra, Flavio, Severi, Giulia, La Bianca, Martina, Licchetta, Laura, Gasparini, Paolo, Graziano, Claudio, Girotto, Giorgia
Publicado 2021

Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry

por Dibello, Daniela, Torelli, Lucio, Di Carlo, Valentina, d’Adamo, Adamo Pio, Faletra, Flavio, Mangogna, Alessandro, Colin, Giulia
Publicado 2022

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

por Elefante, Pierandrea, Spedicati, Beatrice, Faletra, Flavio, Pignata, Laura, Cerrato, Flavia, Riccio, Andrea, Barbi, Egidio, Memo, Luigi, Travan, Laura
Publicado 2023

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

por Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia
Publicado 2022

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

por Bottega, Roberta, Napolitano, Luisa M. R., Carbone, Anna, Cappelli, Enrico, Corsolini, Fabio, Onesti, Silvia, Savoia, Anna, Gasparini, Paolo, Faletra, Flavio
Publicado 2019

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

por Sirchia, Fabio, Fantasia, Ilaria, Feresin, Agnese, Giorgio, Elisa, Faletra, Flavio, Mordeglia, Denise, Barbieri, Moira, Guida, Valentina, De Luca, Alessandro, Stampalija, Tamara
Publicado 2021

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies

por Valencic, Erica, Da Lozzo, Prisca, Tornese, Gianluca, Ghirigato, Elena, Facca, Francesco, Piscianz, Elisa, Faletra, Flavio, Taddio, Andrea, Tommasini, Alberto, Magnolato, Andrea
Publicado 2021

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

por Spedicati, Beatrice, Cocca, Massimiliano, Palmisano, Roberto, Faletra, Flavio, Barbieri, Caterina, Francescatto, Margherita, Mezzavilla, Massimo, Morgan, Anna, Pelliccione, Giulia, Gasparini, Paolo, Girotto, Giorgia
Publicado 2021

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies

por Rispoli, Francesco, Valencic, Erica, Girardelli, Martina, Pin, Alessia, Tesser, Alessandra, Piscianz, Elisa, Boz, Valentina, Faletra, Flavio, Severini, Giovanni Maria, Taddio, Andrea, Tommasini, Alberto
Publicado 2021

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis

por Bottega, Roberta, Cappellani, Stefania, Fabretto, Antonella, Spinelli, Alessandro Mauro, Severini, Giovanni Maria, Aloisio, Michelangelo, Faleschini, Michela, Athanasakis, Emmanouil, Bruno, Irene, Faletra, Flavio, Pecile, Vanna
Publicado 2019

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

por Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P., Musante, Luciana
Publicado 2023

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

por Morgan, Anna, Lenarduzzi, Stefania, Spedicati, Beatrice, Cattaruzzi, Elisabetta, Murru, Flora Maria, Pelliccione, Giulia, Mazzà, Daniela, Zollino, Marcella, Graziano, Claudio, Ambrosetti, Umberto, Seri, Marco, Faletra, Flavio, Girotto, Giorgia
Publicado 2020

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

por Uliana, Vera, Sebastio, Paola, Riva, Matteo, Carli, Diana, Ruberto, Claudio, Bianchi, Laura, Graziano, Claudio, Capelli, Irene, Faletra, Flavio, Pillon, Roberto, Mattina, Teresa, Sensi, Alberto, Bonatti, Francesco, Percesepe, Antonio
Publicado 2020

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

por Musante, Luciana, Costa, Paola, Zanus, Caterina, Faletra, Flavio, Murru, Flora M., Bianco, Anna M., La Bianca, Martina, Ragusa, Giulia, Athanasakis, Emmanouil, d’Adamo, Adamo P., Carrozzi, Marco, Gasparini, Paolo
Publicado 2022

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnos...

por Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela
Publicado 2022

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

por Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta
Publicado 2022