Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases von Fallerini, C., Dosa, L., Tita, R., Del Prete, D., Feriozzi, S., Gai, G., Clementi, M., La Manna, A., Miglietti, N., Mancini, R., Mandrile, G., Ghiggeri, G.M., Piaggio, G., Brancati, F., Diano, L., Frate, E., Pinciaroli, A.R., Giani, M., Castorina, P., Bresin, E., Giachino, D., De Marchi, M., Mari, F., Bruttini, M., Renieri, A., Ariani, F.

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate dise... von Di Gregorio, E., Riberi, E., Belligni, E.F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., Giordano, M., Guala, A., Keller, R., Mandrile, G., Arduino, C., Maffè, A., Naretto, V.G., Sirchia, F., Sorasio, L., Ungari, S., Zonta, A., Zacchetti, G., Talarico, F., Pappi, P., Cavalieri, S., Giorgio, E., Mancini, C., Ferrero, M., Brussino, A., Savin, E., Gandione, M., Pelle, A., Giachino, D.F., De Marchi, M., Restagno, G., Provero, P., Cirillo Silengo, M., Grosso, E., Buxbaum, J.D., Pasini, B., De Rubeis, S., Brusco, A., Ferrero, G.B.

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms von Scala, E, Ariani, F, Mari, F, Caselli, R, Pescucci, C, Longo, I, Meloni, I, Giachino, D, Bruttini, M, Hayek, G, Zappella, M, Renieri, A

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Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations von Maffé, A, Toschi, B, Circo, G, Giachino, D, Giglio, S, Rizzo, A, Carloni, A, Poletti, V, Tomassetti, S, Ginardi, C, Ungari, S, Genuardi, M

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Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child von Krishnamurthy, S, Kartha, G B, Venkateswaran, V S, Prasannakumar, M, Mahadevan, S, Gowda, M, Pelle, A, Giachino, D

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HYPERTROPHIC CARDIOMYOPATHY AND MYBPC3 VARIANT - A CLINICAL CASE von Bianco, M, Nangeroni, G, Biolè, C, Garello, L, Giachino, D, Chinaglia, A

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P5028Shanghai score system into practice von Carvalho, P, Gravinese, C, Varalda, G P, Previti, A, Mandrile, G, Giachino, D F, Pozzi, R

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P.06.1 RELATIONSHIP BETWEEN NOD2/CARD15 GENE POLYMORPHISMS AND RESPONSE TO ANTI-TNF AGENTS IN INFLAMMATORY BOWEL DISEASES: RESULTS OF A CLINICAL COHORT STUDY von Arese, D, Sambataro, A, Simondi, D, Giachino, D, De Marchi, M, Daperno, M, Sostegni, R, Lavagna, A, Rocca, R, Ribaldone, D, Luchino, M, Astegiano, M, Saracco, G

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P89 THE INTEGRATED CARDIOGENETICS CLINIC FOR CARDIOMYOPATHIES – FIRST YEAR OF ACTIVITY RESULTING FROM A NEW ORGANIZATIONAL MODEL von Bianco, M, Gazzola, V, Nangeroni, G, Biolè, C, Deaglio, S, Giachino, D, Chinaglia, A

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Usefulness of exercise test in the diagnosis of short QT syndrome von Giustetto, Carla, Scrocco, Chiara, Schimpf, Rainer, Maury, Philippe, Mazzanti, Andrea, Levetto, Marco, Anttonen, Olli, Dalmasso, Paola, Cerrato, Natascia, Gribaudo, Elena, Wolpert, Christian, Giachino, Daniela, Antzelevitch, Charles, Borggrefe, Martin, Gaita, Fiorenzo

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Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance von Mandrile, G, Robbiano, A, Giachino, D F, Sebastiano, R, Dondi, E, Fenoglio, R, Stratta, P, Caruso, M R, Petrarulo, M, Marangella, M, De Marchi, M

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P6428Short QT interval: when does it matter? A multi-parametric analysis for diagnosing Short QT Syndrome von Scrocco, C., Giustetto, C., Callegari, M., Maury, P., Tulumen, E., Anttonen, O., Giachino, D., Cuccurullo, A., Rollin, A., Bergamasco, L., Borggrefe, M., Gaita, F.

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COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome von Longo, Ilaria, Porcedda, Paola, Mari, Francesca, Giachino, Daniela, Meloni, Ilaria, Deplano, Carla, Brusco, Alfredo, Bosio, Maurizio, Massella, Laura, Lavoratti, Giancarlo, Roccatello, Dario, Frascá, Giovanni, Mazzucco, Gianna, Muda, Andrea Onetti, Conti, Maura, Fasciolo, Federica, Arrondel, Christelle, Heidet, Laurence, Renieri, Alessandra, De Marchi, Mario

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A new CARD15 mutation in Blau syndrome von VAN DUIST, Marjan M, ALBRECHT, Mario, PODSWIADEK, Marta, GIACHINO, Daniela, LENGAUER, Thomas, PUNZI, Leonardo, DE MARCHI, Mario

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A new surgical concept for rectal replacement after low anterior resection: the transverse coloplasty pouch von Z'graggen, K, Maurer, C A, Birrer, S, Giachino, D, Kern, B, Büchler, M W

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Multiple Pulmonary Nodules von Breitenbücher, A., Gayer, R., Giachino, D., Mordasini, C.

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Atrial fibrillation in a large population with Brugada electrocardiographic pattern: Prevalence, management, and correlation with prognosis von Giustetto, Carla, MD, Cerrato, Natascia, MD, Gribaudo, Elena, MD, Scrocco, Chiara, MD, Castagno, Davide, MD, Richiardi, Elena, MD, Giachino, Daniela, MD, PhD, Bianchi, Francesca, MD, Barbonaglia, Lorella, MD, Ferraro, Anna, MD, Scaglione, Marco, MD, Riccardi, Riccardo, MD, Gaita, Fiorenzo, MD

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Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients von GIACHINO, Daniela, VAN DUIST, Marjan Maria, SAMBATARO, Angela, GAIA, Ezio, PERA, Angelo, ASTEGIANO, Marco, DE MARCHI, M, REGAZZONI, Silvia, GREGORI, Dario, BARDESSONO, Marco, SALACONE, Paola, SCAGLIONE, Nadia, SOSTEGNI, Raffaello, SAPONE, Nicoletta, BRESSO, Francesca

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MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients von Novello, S., Mandrile, G., Giachino, D. F., Ghio, P., Selvaggi, G., Gregori, D., De Marchi, M., Scagliotti, G. V.

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Altered insulin sensitivity, hyperinsulinemia, and dyslipidemia in individuals with a hypertensive parent von Ferrari, Paolo, Weidmann, Peter, Shaw, Sidney, Giachino, Daniel, Riesen, Walter, Allemann, Yves, Heynen, Guy

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