Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Diana, Carli"'
Autor:
Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-13 (2023)
Abstract Background In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome sequencing approach, follo
Externí odkaz:
https://doaj.org/article/1e7a2209db66432fa0f2f4bd0da27469
Autor:
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa
Publikováno v:
Life, Vol 14, Iss 6, p 731 (2024)
The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse stimuli. These variants functionally converge towards the overactivation of the pathway, l
Externí odkaz:
https://doaj.org/article/9b43c3c9064248b08886248b2271543f
Autor:
Andrea Gazzin, Francesca Pala, Marita Bosticardo, Julie Niemela, Jennifer Stoddard, Eleonora Biasin, Paola Quarello, Diana Carli, Francesca Ferroni, Ottavia M. Delmonte, Davide Montin, Sergio D. Rosenzweig, Francesco Licciardi, Luigi D. Notarangelo
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionMulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms’ tumor. Although immune system impairment has b
Externí odkaz:
https://doaj.org/article/b64afc7eac1f4438a0e696ecab1e822e
Publikováno v:
JCRPE, Vol 12, Iss 1, Pp 1-16 (2020)
Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition. Aberrant expression of imprinted genes c
Externí odkaz:
https://doaj.org/article/f3663d525d8f4b7397d6bc7334261b81
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes,
Externí odkaz:
https://doaj.org/article/59cf0196e904451d9b61b03c84ea41f4
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:520-529
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b466014437cd7fc442811fe2c670549c
https://doi.org/10.1002/ajmg.c.32021
https://doi.org/10.1002/ajmg.c.32021
Autor:
Salvatore Garofalo, Jürgen Schleef, Riccardo Guanà, Liana Suteu, Maria Grazia Cortese, Diana Carli, Giovanni Battista Ferrero, Fabrizio Gennari
Publikováno v:
Pediatrics and Neonatology, Vol 61, Iss 1, Pp 121-122 (2020)
Externí odkaz:
https://doaj.org/article/b71803ce021d48e7a8b6c4226d20f963
Autor:
Giulia Pilloni, Paola Peretta, Diana Carli, Anna Campello, Luca Bertero, Francesca Maletta, Stefano Gabriele Vallero, Paola Ragazzi
Publikováno v:
SN Comprehensive Clinical Medicine. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982c52c22387bd399aa30d075f8611d2
https://doi.org/10.1007/s42399-023-01414-2
https://doi.org/10.1007/s42399-023-01414-2
Autor:
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D’Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Publikováno v:
Cancers
Volume 15
Issue 3
Pages: 773
Volume 15
Issue 3
Pages: 773
Different scoring systems for the clinical diagnosis of the Beckwith-Wiedemann spectrum (BWSp) have been developed over time, the most recent being the international consensus score. Here we try to validate and provide data on the performance metrics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29fcf41ce85ecb45f0a4f9757a4dfb4
Autor:
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D. Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ab9459ff9f78a1e3d9adca5f8adb99
https://hdl.handle.net/2318/1903052
https://hdl.handle.net/2318/1903052
