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45 results

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Page 1
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, West DM, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AMC, Walsh R, Amin AS, van Slegtenhorst MA, Roslin NM, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Gagliano Taliun SA, Pinto YM, Rakowski H, Pantazis A, Bai W, Baksi J, Halliday BP, Prasad SK, Barton PJR, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AAM, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. Among authors: pelo e. Nat Genet. 2025 Mar;57(3):530-538. doi: 10.1038/s41588-025-02087-4. Epub 2025 Feb 18. Nat Genet. 2025. PMID: 39966646 Free PMC article.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. Among authors: pelo e. medRxiv [Preprint]. 2023 Feb 6:2023.01.28.23285147. doi: 10.1101/2023.01.28.23285147. medRxiv. 2023. Update in: Nat Genet. 2025 Mar;57(3):530-538. doi: 10.1038/s41588-025-02087-4. PMID: 36778260 Free PMC article. Updated. Preprint.
Choroidal Caverns in Stargardt Disease.
Mucciolo DP, Giorgio D, Lippera M, Dattilo V, Passerini I, Pelo E, Sodi A, Virgili G, Giansanti F, Murro V. Mucciolo DP, et al. Among authors: pelo e. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):25. doi: 10.1167/iovs.63.2.25. Invest Ophthalmol Vis Sci. 2022. PMID: 35156991 Free PMC article.
En face OCT in choroideremia.
Murro V, Mucciolo DP, Sodi A, Giorgio D, Passerini I, Pelo E, Virgili G, Rizzo S. Murro V, et al. Among authors: pelo e. Ophthalmic Genet. 2019 Dec;40(6):514-520. doi: 10.1080/13816810.2019.1711429. Epub 2020 Jan 13. Ophthalmic Genet. 2019. PMID: 31928275
The Italian Perinatal Surveillance System SPItOSS: insights from Confidential Enquiries.
Salvatore MA, Salvi S, D'Aloja P, Vergani P, Bellù R, Dani C, Mecacci F, D'Anna MR, Ferrazzani S, Battagliarin G, Paolillo P, Picone S, Ramenghi L, Vento G, Donati S; Italian Perinatal Surveillance System-SPItOSS Working Group. Salvatore MA, et al. Ital J Pediatr. 2024 Dec 4;50(1):256. doi: 10.1186/s13052-024-01811-w. Ital J Pediatr. 2024. PMID: 39633409 Free PMC article.
Choroidal Vascularity Index in CHM Carriers.
Mucciolo DP, Giorgio D, Lippera M, Passerini I, Pelo E, Cipollini F, Sodi A, Virgili G, Giansanti F, Murro V. Mucciolo DP, et al. Among authors: pelo e. Front Ophthalmol (Lausanne). 2021 Oct 20;1:755058. doi: 10.3389/fopht.2021.755058. eCollection 2021. Front Ophthalmol (Lausanne). 2021. PMID: 38983966 Free PMC article.
45 results