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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2013 5
2014 6
2015 2
2016 1
2017 3
2018 2
2019 1
2020 8
2021 7
2022 5
2023 3
2024 1

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41 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: gonfiantini mv. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: gonfiantini mv. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Ancient Romans and Down Syndrome.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Bartuli A. Vecchio D, et al. Among authors: gonfiantini mv. Pediatr Res. 2021 Dec;90(6):1266-1267. doi: 10.1038/s41390-021-01366-0. Epub 2021 Feb 2. Pediatr Res. 2021. PMID: 33531671 No abstract available.
How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo R, Sforza E, Bedeschi MF, Leoni C, Giorgio V, Rigante D, De Rose C, Kuczynska EM, Romeo DM, Palmacci O, Massimi L, Porro M, Gonfiantini MV, Selicorni A, Allegri A, Maghnie M, Zampino G. Onesimo R, et al. Among authors: gonfiantini mv. Eur J Med Genet. 2023 Nov;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758167 Free article.
Epidemiology of pertussis in Italy: disease trends over the last century.
Gonfiantini MV, Carloni E, Gesualdo F, Pandolfi E, Agricola E, Rizzuto E, Iannazzo S, Ciofi Degli Atti ML, Villani A, Tozzi AE. Gonfiantini MV, et al. Euro Surveill. 2014 Oct 9;19(40):20921. doi: 10.2807/1560-7917.es2014.19.40.20921. Euro Surveill. 2014. PMID: 25323077 Free article. Review.
Statins in children: A monocentric experience.
Buonuomo PS, Mastrogiorgio G, Macchiaiolo M, Rana I, Gonfiantini MV, Marafon DP, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. J Clin Lipidol. 2018 Sep-Oct;12(5):1326-1327. doi: 10.1016/j.jacl.2018.06.009. Epub 2018 Jun 26. J Clin Lipidol. 2018. PMID: 30033004 No abstract available.
Eruptive Xanthomas in Lipoprotein Lipase Deficiency.
Buonuomo PS, Malamisura M, Macchiaiolo M, Rana I, Gonfiantini MV, Mastrogiorgio G, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. J Pediatr. 2017 Aug;187:330. doi: 10.1016/j.jpeds.2017.04.032. Epub 2017 May 18. J Pediatr. 2017. PMID: 28529016 No abstract available.
Erythropoietic protoporphyria in a boy.
Buonuomo PS, Macchiaiolo M, Gonfiantini MV, Biolcati G, Pitisci A, Villani A, Bartuli A. Buonuomo PS, et al. Among authors: gonfiantini mv. Arch Dis Child. 2015 Jan;100(1):7. doi: 10.1136/archdischild-2014-307082. Epub 2014 Nov 12. Arch Dis Child. 2015. PMID: 25392202 No abstract available.
Dissecting the mechanisms of bone loss in Gorham-Stout disease.
Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D'Agostini M, Macchiaiolo M, De Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, Del Fattore A. Rossi M, et al. Among authors: gonfiantini mv. Bone. 2020 Jan;130:115068. doi: 10.1016/j.bone.2019.115068. Epub 2019 Sep 13. Bone. 2020. PMID: 31525474
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: gonfiantini mv. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
41 results