Sfoglia per Autore
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
2021-01-01 Sirchia, F.; Fantasia, I.; Feresin, A.; Giorgio, E.; Faletra, F.; Mordeglia, D.; Barbieri, M.; Guida, V.; De Luca, A.; Stampalija, T.
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease
2021-01-01 Morgan, A.; Dipresa, S.; Turolla, L.; La Bianca, M.; Faletra, F.; Girotto, G.
When salt is needed to grow: Answers
2021-01-01 Conversano, E.; Romano, S.; Taddio, A.; Faletra, F.; Zanon, D.; Barbi, E.; Pennesi, M.
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
2021-01-01 Valencic, Erica; Da Lozzo, Prisca; Tornese, Gianluca; Ghirigato, Elena; Facca, Francesco; Piscianz, Elisa; Faletra, Flavio; Taddio, Andrea; Tommasini, Alberto; Magnolato, Andrea
When salt is needed to grow: Questions
2021-01-01 Conversano, Ester; Romano, Sara; Taddio, Andrea; Faletra, Flavio; Zanon, Davide; Barbi, Egidio; Pennesi, Marco
Could the MED13 mutations manifest as a Kabuki-like syndrome?
2021-01-01 De Nardi, L.; Faletra, F.; D'Adamo, A. P.; Bianco, A. M. R.; Athanasakis, E.; Bruno, I.; Barbi, E.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry
2022-01-01 Dibello, Daniela; Torelli, Lucio; Di Carlo, Valentina; D’Adamo, Adamo Pio; Faletra, Flavio; Mangogna, Alessandro; Colin, Giulia
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
2022-01-01 Morgan, A.; Faletra, F.; Severi, G.; La Bianca, M.; Licchetta, L.; Gasparini, P.; Graziano, C.; Girotto, G.
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
2022-01-01 Spedicati, Beatrice; Morgan, Anna; Pianigiani, Giulia; Musante, Luciana; Rubinato, Elisa; Santin, Aurora; Nardone, Giuseppe Giovanni; Faletra, Flavio; Girotto, Giorgia
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
2022-01-01 Bianco, Anna Monica; Ragusa, Giulia; Di Carlo, Valentina; Faletra, Flavio; Di Stazio, Mariateresa; Racano, Costantina; Trisolino, Giovanni; Cappellani, Stefania; De Pellegrin, Maurizio; D’Addetta, Ignazio; Carluccio, Giuseppe; Monforte, Sergio; Andreacchio, Antonio; Dibello, Daniela; D’Adamo, Adamo P.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
2022-01-01 Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
2022-01-01 Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
2022-01-01 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
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 diagnosis, investigation and counselling
2022-01-01 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
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles
2023-01-01 Fantasia, Ilaria; Catagini, Silvia; Zamagni, Giulia; Greco, Pantaleo; Bianchini, Irene; Bussolaro, Sofia; Quadrifoglio, Mariachiara; Lo Bello, Leila; Monasta, Lorenzo; Ricci, Giuseppe; Faletra, Flavio; Feresin, Agnese; Stampalija, Tamara
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
2023-01-01 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
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
2023-01-01 Fantasia, Ilaria; Faletra, Flavio; Bussani, Rossana; Murru, Flora Maria; Ottaviani Giammarco, Chiara; Travan, Laura; Sirchia, Fabio; Feresin, Agnese; Stampalija, Tamara
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
2023-01-01 Elefante, Pierandrea; Spedicati, Beatrice; Faletra, Flavio; Pignata, Laura; Cerrato, Flavia; Riccio, Andrea; Barbi, Egidio; Memo, Luigi; Travan, Laura
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