Zobrazeno 1 - 10
of 187
pro vyhledávání: '"Alessandro, Mussa"'
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, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa
Publikováno v:
Genes, Vol 14, Iss 12, p 2134 (2023)
PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA-related disorders include PIK3CA-relat
Externí odkaz:
https://doaj.org/article/8ad75e3a4baf43c8ba24b4ea7c7fab57
Autor:
Alessandro Mussa, Jennifer M. Kalish
Publikováno v:
Cancers, Vol 15, Iss 20, p 4939 (2023)
Beckwith–Wiedemann syndrome (BWS) is a genetic imprinting disorder that most commonly presents as overgrowth, macroglossia, abdominal wall defects, lateralized overgrowth, and embryonal tumors [...]
Externí odkaz:
https://doaj.org/article/c9fcbb839a4646678d2fe950c6a24151
Autor:
Valeria Caramello, Alessandra Macciotta, Fabrizio Bar, Alessandro Mussa, Anna Maria De Leo, Alessandro Vincenzo De Salve, Fabio Nota, Carlotta Sacerdote, Fulvio Ricceri, Adriana Boccuzzi
Publikováno v:
BMC Public Health, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background Patients that arrive in the emergency department (ED) with COVID-19-like syndromes testing negative at the first RT-PCR represent a clinical challenge because of the lack of evidence about their management available in the literat
Externí odkaz:
https://doaj.org/article/e66004c95bc148f0a9df2f9eb4783b35
Autor:
Andrea Esposito, Maria Cristina Vigone, Miriam Polizzi, Malgorzata Gabriela Wasniewska, Alessandra Cassio, Alessandro Mussa, Roberto Gastaldi, Raffaella Di Mase, Gaia Vincenzi, Clara Pozzi, Elena Peroni, Carmela Bravaccio, Donatella Capalbo, Dario Bruzzese, Mariacarolina Salerno
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
ObjectivesWe designed a multicentre open prospective randomized trial to evaluate the risk-benefit profile of two different initial treatment schemes with levothyroxine (L-T4), 10-12.5 μg/kg/day vs 12.6-15 μg/kg/day, on growth and neurodevelopmenta
Externí odkaz:
https://doaj.org/article/ffce6b27a165420787fa8276e3309eb1
Autor:
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Publikováno v:
Genes, Vol 14, Iss 3, p 549 (2023)
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, e
Externí odkaz:
https://doaj.org/article/19e4f3532da64533b04a5d84348cf56c
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, Vol 15, Iss 3, p 773 (2023)
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 metri
Externí odkaz:
https://doaj.org/article/c1cbebdc44f140a6a330bf81051c17c1
Autor:
Annachiara Libraro, Vito D’Ascanio, Marco Cappa, Mariangela Chiarito, Maria Cristina Digilio, Silvia Einaudi, Anna Grandone, Mohamad Maghnie, Laura Mazzanti, Alessandro Mussa, Giuseppa Patti, Emanuela Scarano, Antonietta Spinuzza, Silvia Vannelli, Malgorzata Gabriela Wasniewska, Giovanni Battista Ferrero, Maria Felicia Faienza
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectivesGrowth impairment is a common manifestation in Noonan syndrome (NS). Recombinant human GH (rhGH) treatment has been shown to increase growth and adult height (AH) in a few studies. We aimed to evaluate the growth trajectory towards the AH,
Externí odkaz:
https://doaj.org/article/db32319567be40a49ba047ac6fda8813
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