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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Hum Mutat. 2013 Jan;34(1):83-7. doi: 10.1002/humu.22215. Epub 2012 Oct 11.
Hum Mutat. 2013.
PMID: 22949395
Free PMC article.
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M, Guerin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C.
Abifadel M, et al. Among authors: tosolini l.
Atherosclerosis. 2012 Aug;223(2):394-400. doi: 10.1016/j.atherosclerosis.2012.04.006. Epub 2012 May 17.
Atherosclerosis. 2012.
PMID: 22683120
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MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C.
Barbier M, et al. Among authors: tosolini l.
Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26.
Am J Hum Genet. 2014.
PMID: 25434006
Free PMC article.
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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M.
Elbitar S, et al. Among authors: tosolini l.
Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28.
Genet Med. 2021.
PMID: 32855533
Free PMC article.
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Use of bone marrow aspirate concentrate (BMAC) in the treatment of delayed unions and nonunions: a single-center case series.
Canton G, Tomic M, Tosolini L, Di Lenarda L, Murena L.
Canton G, et al. Among authors: tosolini l.
Acta Biomed. 2023 Jun 23;94(S2):e2023118. doi: 10.23750/abm.v94iS2.13870.
Acta Biomed. 2023.
PMID: 38193517
Free article.
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Treatment options for massive rotator cuff tears: a narrative review.
Di Benedetto P, Mancuso F, Tosolini L, Buttironi MM, Beltrame A, Causero A.
Di Benedetto P, et al. Among authors: tosolini l.
Acta Biomed. 2021 Jul 26;92(S3):e2021026. doi: 10.23750/abm.v92iS3.11766.
Acta Biomed. 2021.
PMID: 34313657
Free PMC article.
Review.
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[Continuous monitoring of mixed venous saturation during mechanical ventricular assistance in heart surgery].
Giordano F, Bertolissi M, De Monte A, Muzzi R, Peressutti R, Tosolini L.
Giordano F, et al. Among authors: tosolini l.
Minerva Anestesiol. 1991 Dec;57(12 Suppl):179-81.
Minerva Anestesiol. 1991.
PMID: 1806828
Italian.
No abstract available.
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