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Year Number of Results
1974 1
1980 1
1981 4
1982 4
1983 1
1986 1
1988 3
1990 3
1991 1
1997 1
1998 1
1999 1
2002 1
2005 1
2009 1
2010 1
2011 1
2013 1
2014 2
2015 4
2016 2
2017 6
2018 5
2019 7
2020 5
2021 7
2022 2
2023 3
2024 1

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62 results

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Page 1
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: pinna v. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Hemodynamic Responses during Enduro-Motorcycling Performance.
Sanna I, Pinna V, Milia R, Roberto S, Olla S, Mulliri G, Crisafulli A. Sanna I, et al. Among authors: pinna v. Front Physiol. 2017 Dec 14;8:1062. doi: 10.3389/fphys.2017.01062. eCollection 2017. Front Physiol. 2017. PMID: 29311986 Free PMC article.
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Among authors: pinna v. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D. Di Candia F, et al. Among authors: pinna v. Orphanet J Rare Dis. 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. Orphanet J Rare Dis. 2021. PMID: 34857025 Free PMC article.
Physical Capacity and Energy Expenditure of Cavers.
Pinna V, Magnani S, Sainas G, Ghiani G, Vanni S, Olla S, Marini E, Curreli N, Cabras S, Farinatti P, Antoni G, Tocco F, Rinaldi AC, Crisafulli A. Pinna V, et al. Front Physiol. 2017 Dec 15;8:1067. doi: 10.3389/fphys.2017.01067. eCollection 2017. Front Physiol. 2017. PMID: 29326602 Free PMC article.
Carotid artery stenting during endovascular thrombectomy for acute ischemic stroke with tandem occlusion: the Italian Registry of Endovascular Treatment in Acute Stroke.
Sallustio F, Pracucci G, Cappellari M, Saia V, Mascolo AP, Marrama F, Gandini R, Koch G, Diomedi M, D'Agostino F, Rocco A, Da Ros V, Wlderk A, Nezzo M, Argirò R, Morosetti D, Renieri L, Nencini P, Vallone S, Zini A, Bigliardi G, Pitrone A, Grillo F, Bracco S, Tassi R, Bergui M, Naldi A, Carità G, Casetta I, Gasparotti R, Magoni M, Simonetti L, Haznedari N, Paolucci M, Mavilio N, Malfatto L, Menozzi R, Genovese A, Cosottini M, Orlandi G, Comai A, Franchini E, Pedicelli A, Frisullo G, Puglielli E, Casalena A, Cester G, Baracchini C, Castellano D, Di Liberto A, Ricciardi GK, Chiumarulo L, Petruzzellis M, Lafe E, Persico A, Cavasin N, Critelli A, Semeraro V, Tinelli A, Giorgianni A, Carimati F, Auteri W, Rizzuto S, Biraschi F, Nicolini E, Ferrari A, Melis M, Calia S, Tassinari T, Nuzzi NP, Corato M, Sacco S, Squassina G, Invernizzi P, Gallesio I, Ruiz L, Dui G, Carboni N, Amistà P, Russo M, Maiore M, Zanda B, Craparo G, Mannino M, Inzitari D, Toni D, Mangiafico S; Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS) Collaborators. Sallustio F, et al. Acta Neurol Belg. 2023 Apr;123(2):475-485. doi: 10.1007/s13760-022-02067-z. Epub 2022 Sep 2. Acta Neurol Belg. 2023. PMID: 36056270
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M. Brinkmann J, et al. Among authors: pinna v. Eur J Hum Genet. 2021 Mar;29(3):524-527. doi: 10.1038/s41431-020-00743-3. Epub 2020 Oct 20. Eur J Hum Genet. 2021. PMID: 33082526 Free PMC article.
62 results