An unusual diagnosis for an usual test by Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi, Gianluca Tornese

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

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Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature by Francesco Baldo, Laura Morra, Agnese Feresin, Flavio Faletra, Yasmin Al Naber, Luigi Memo, Laura Travan

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss by Anna Morgan, Flavio Faletra, Giulia Severi, Martina La Bianca, Laura Licchetta, Paolo Gasparini, Claudio Graziano, Giorgia Girotto

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Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature by Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo, Laura Travan

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Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures by Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto

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Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies by Francesco Rispoli, Erica Valencic, Martina Girardelli, Alessia Pin, Alessandra Tesser, Elisa Piscianz, Valentina Boz, Flavio Faletra, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini

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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of <i>CSNK2B</i>-Associated Disorders by Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d’Adamo, Luciana Musante

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Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population by Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazzà, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto

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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study by Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe

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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge by Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini

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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis by Ilaria Persico, Agnese Feresin, Michela Faleschini, Giorgia Fontana, Fabio Sirchia, Flavio Faletra, Martina La Bianca, Sarah Suergiu, Marcello Morgutti, Massimo Maschio, Adamo Pio D'Adamo, Karen S. Raraigh, Anna Savoia, Roberta Bottega

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

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What Is the Exact Contribution of <i>PITX1</i> and <i>TBX4</i> Genes in Clubfoot Development? An Italian Study by Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d’Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo P. d’Adamo

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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 N... by Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Paolo Gasparini, Giorgia Girotto, Giorgia Girotto

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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 Cha... by Vilma Mantovani, Vilma Mantovani, Sofia Bin, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna

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Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants by Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia

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Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients by Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli

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Evidence of inbreeding depression on human height. by Ruth McQuillan, Niina Eklund, Nicola Pirastu, Maris Kuningas, Brian P McEvoy, Tõnu Esko, Tanguy Corre, Gail Davies, Marika Kaakinen, Leo-Pekka Lyytikäinen, Kati Kristiansson, Aki S Havulinna, Martin Gögele, Veronique Vitart, Albert Tenesa, Yurii Aulchenko, Caroline Hayward, Asa Johansson, Mladen Boban, Sheila Ulivi, Antonietta Robino, Vesna Boraska, Wilmar Igl, Sarah H Wild, Lina Zgaga, Najaf Amin, Evropi Theodoratou, Ozren Polašek, Giorgia Girotto, Lorna M Lopez, Cinzia Sala, Jari Lahti, Tiina Laatikainen, Inga Prokopenko, Mart Kals, Jorma Viikari, Jian Yang, Anneli Pouta, Karol Estrada, Albert Hofman, Nelson Freimer, Nicholas G Martin, Mika Kähönen, Lili Milani, Markku Heliövaara, Erkki Vartiainen, Katri Räikkönen, Corrado Masciullo, John M Starr, Andrew A Hicks, Laura Esposito, Ivana Kolčić, Susan M Farrington, Ben Oostra, Tatijana Zemunik, Harry Campbell, Mirna Kirin, Marina Pehlic, Flavio Faletra, David Porteous, Giorgio Pistis, Elisabeth Widén, Veikko Salomaa, Seppo Koskinen, Krista Fischer, Terho Lehtimäki, Andrew Heath, Mark I McCarthy, Fernando Rivadeneira, Grant W Montgomery, Henning Tiemeier, Anna-Liisa Hartikainen, Pamela A F Madden, Pio d'Adamo, Nicholas D Hastie, Ulf Gyllensten, Alan F Wright, Cornelia M van Duijn, Malcolm Dunlop, Igor Rudan, Paolo Gasparini, Peter P Pramstaller, Ian J Deary, Daniela Toniolo, Johan G Eriksson, Antti Jula, Olli T Raitakari, Andres Metspalu, Markus Perola, Marjo-Riitta Järvelin, André Uitterlinden, Peter M Visscher, James F Wilson, ROHgen Consortium

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