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Page 1
Carnitine in lactic acidosis.
Dionisi Vici C, Bertini E, Bartuli A, Sabetta G. Dionisi Vici C, et al. Among authors: bartuli a. J Pediatr. 1988 Apr;112(4):678. doi: 10.1016/s0022-3476(88)80202-6. J Pediatr. 1988. PMID: 3351698 No abstract available.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: bartuli a. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Pederiva C, Capra ME, Biasucci G, Banderali G, Fabrizi E, Gazzotti M, Casula M, Catapano AL; LIPIGEN Paediatric Group; MEMBERS OF THE LIPIGEN STEERING COMMITTEE; Arca M, Averna M, Bertolini S, Calandra S, Catapano AL, Tarugi P; PRINCIPAL INVESTIGATORS; Coordinator center; Pellegatta F; Participant Centers; Participant COLLABORATORS; STUDY COORDINATING GROUP. Pederiva C, et al. Atherosclerosis. 2022 May;349:233-239. doi: 10.1016/j.atherosclerosis.2022.04.021. Epub 2022 Apr 25. Atherosclerosis. 2022. PMID: 35562202
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, Villani A, Minervino D, Martinelli D, Rizzo C, Boenzi S, Panfili FM, Buonuomo PS, Macchiaiolo M, Bartuli A, Novelli A. Cocciadiferro D, et al. Among authors: bartuli a. Front Genet. 2024 Jan 4;14:1307934. doi: 10.3389/fgene.2023.1307934. eCollection 2023. Front Genet. 2024. PMID: 38239854 Free PMC article.
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
Panfili FM, Pietrobattista A, Vecchio D, Gonfiantini MV, Bartuli A, Macchiaiolo M. Panfili FM, et al. Among authors: bartuli a. Front Genet. 2023 Dec 22;14:1255807. doi: 10.3389/fgene.2023.1255807. eCollection 2023. Front Genet. 2023. PMID: 38188503 Free PMC article. No abstract available.
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, Kuczynska EM, Proli F, Agazzi C, Limongelli D, Digilio MC, Dentici ML, Macchiaiolo M, Novelli A, Bartuli A, Sinibaldi L, Tartaglia M, Zampino G. Onesimo R, et al. Among authors: bartuli a. Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843. Genes (Basel). 2023. PMID: 37895192 Free PMC article.
120 results