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Page 1
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: macchiaiolo m. 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.
Homozygous familial hypercholesterolaemia.
Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Macchiaiolo M, et al. Lancet. 2012 Apr 7;379(9823):1330. doi: 10.1016/S0140-6736(11)61476-1. Epub 2012 Jan 27. Lancet. 2012. PMID: 22285056 No abstract available.
Acute rheumatic fever with chorea.
Buonuomo PS, Macchiaiolo M, Toscano A, De Benedetti F, Villani A, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. Arch Dis Child. 2013 Mar;98(3):203. doi: 10.1136/archdischild-2012-302732. Epub 2012 Nov 24. Arch Dis Child. 2013. PMID: 23178398 No abstract available.
An unusual presentation of tuberous sclerosis.
Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A. Macchiaiolo M, et al. Arch Dis Child. 2013 Mar;98(3):214-5. doi: 10.1136/archdischild-2012-302885. Epub 2013 Jan 12. Arch Dis Child. 2013. PMID: 23313916 No abstract available.
Persistent neck pain in a girl: Klippel-Feil syndrome.
Buonuomo PS, Macchiaiolo M, Colafati GS, Rana I, Tomà P, Gonfiantini MV, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. Arch Dis Child. 2014 Mar;99(3):290-1. doi: 10.1136/archdischild-2013-305203. Epub 2013 Nov 28. Arch Dis Child. 2014. PMID: 24288136 No abstract available.
Corneal arcus as first sign of familial hypercholesterolemia.
Macchiaiolo M, Buonuomo PS, Valente P, Rana I, Lepri FR, Gonfiantini MV, Bartuli A. Macchiaiolo M, et al. J Pediatr. 2014 Mar;164(3):670. doi: 10.1016/j.jpeds.2013.10.045. Epub 2013 Dec 4. J Pediatr. 2014. PMID: 24314439 No abstract available.
70 results