Search Results - "Faletra, Flavio"

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates by Spedicati, Beatrice, Cocca, Massimiliano, Palmisano, Roberto, Faletra, Flavio, Barbieri, Caterina, Francescatto, Margherita, Mezzavilla, Massimo, Morgan, Anna, Pelliccione, Giulia, Gasparini, Paolo, Girotto, Giorgia

“…Whole genome sequencing (WGS) allows the identification of human knockouts (HKOs), individuals in whom loss of function (LoF) variants disrupt both alleles of…”
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When salt is needed to grow: Answers by Conversano, Ester, Romano, Sara, Taddio, Andrea, Faletra, Flavio, Zanon, Davide, Barbi, Egidio, Pennesi, Marco

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When salt is needed to grow: Questions by Conversano, Ester, Romano, Sara, Taddio, Andrea, Faletra, Flavio, Zanon, Davide, Barbi, Egidio, Pennesi, Marco

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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

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Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study by Dal Secco, Chiara, Tel, Alessandro, Allegri, Lorenzo, Baldan, Federica, Curcio, Francesco, Sembronio, Salvatore, Faletra, Flavio, Robiony, Massimo, Damante, Giuseppe, Mio, Catia

“…Introduction Liquid biopsy is gaining momentum for diagnosis and surveillance of cancer patients. Indeed, head and neck squamous cell carcinoma (HNSCC) is…”
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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature by Elefante, Pierandrea, Spedicati, Beatrice, Faletra, Flavio, Pignata, Laura, Cerrato, Flavia, Riccio, Andrea, Barbi, Egidio, Memo, Luigi, Travan, Laura

“…Abstract Background Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development…”
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Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 by Bottega, Roberta, Perrone, Maria D, Vecchiato, Katy, Taddio, Andrea, Sabui, Subrata, Pecile, Vanna, Said, Hamid M, Faletra, Flavio

“…Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic…”
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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families by Mantovani, Vilma, Bin, Sofia, Graziano, Claudio, Capelli, Irene, Minardi, Raffaella, Aiello, Valeria, Ambrosini, Enrico, Cristalli, Carlotta Pia, Mattiaccio, Alessandro, Pariali, Milena, De Fanti, Sara, Faletra, Flavio, Grosso, Enrico, Cantone, Rachele, Mancini, Elena, Mencarelli, Francesca, Pasini, Andrea, Wischmeijer, Anita, Sciascia, Nicola, Seri, Marco, La Manna, Gaetano

“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in…”
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Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature by Baldo, Francesco, Morra, Laura, Feresin, Agnese, Faletra, Flavio, Al Naber, Yasmin, Memo, Luigi, Travan, Laura

“…Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic dilatations and arterial…”
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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 by 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 sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the…”
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Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene by Faletra, Flavio, D'Adamo, Adamo P., Bruno, Irene, Athanasakis, Emmanouil, Biskup, Saskia, Esposito, Laura, Gasparini, Paolo

“…Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory…”
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An unusual diagnosis for an usual test by Trombetta, Andrea, Migliarino, Vanessa, Faletra, Flavio, Barbi, Egidio, Tornese, Gianluca

“…Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the…”
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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations by Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential…”
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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis by Sirchia, Fabio, Fantasia, Ilaria, Feresin, Agnese, Giorgio, Elisa, Faletra, Flavio, Mordeglia, Denise, Barbieri, Moira, Guida, Valentina, De Luca, Alessandro, Stampalija, Tamara

“…Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract,…”
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TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome by Pigors, Manuela, Kiritsi, Dimitra, Cobzaru, Cristina, Schwieger-Briel, Agnes, Suárez, Jose, Faletra, Flavio, Aho, Heikki, Mäkelä, Leeni, Kern, Johannes S., Bruckner-Tuderman, Leena, Has, Cristina

“…Acral peeling skin syndrome (APSS) is an autosomal recessive skin disorder characterized by acral blistering and peeling of the outermost layers of the…”
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A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis by Paolacci, Stefano, Faletra, Flavio, Maltese, Paolo Enrico, Quadrifoglio, Mariachiara, Bertelli, Matteo

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A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet by Tornese, Gianluca, Patti, Giuseppa, Pellegrin, Maria Chiara, Costa, Paola, Faletra, Flavio, Faleschini, Elena, Barbi, Egidio

“…Abstract Background Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS),…”
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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss by Morgan, Anna, Faletra, Flavio, Severi, Giulia, La Bianca, Martina, Licchetta, Laura, Gasparini, Paolo, Graziano, Claudio, Girotto, Giorgia

“…Hearing loss (HL) is the most common sensory impairment, and it is characterized by a high clinical/genetic heterogeneity. Here we report the identification of…”
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Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection by Athanasakis, Emmanouil, Licastro, Danilo, Faletra, Flavio, Fabretto, Antonella, Dipresa, Savina, Vozzi, Diego, Morgan, Anna, d'Adamo, Adamo P., Pecile, Vanna, Biarnés, Xevi, Gasparini, Paolo

“…The identification of causes underlying intellectual disability (ID) is one of the most demanding challenges for clinical Geneticists and Researchers. Despite…”
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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability by Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

“…Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Two pediatric patients with global…”
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