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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: macchiaiolo m. 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.
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.
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: macchiaiolo m. 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.
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Gonfiantini MV, Armando M, Pucciarini ML, Macchiaiolo M, Buonuomo PS, Diociaiuti A, Lepri FR, Sirleto P, Vicari S, Bartuli A. Gonfiantini MV, et al. Among authors: macchiaiolo m. Am J Med Genet A. 2015 Jul;167(7):1637-43. doi: 10.1002/ajmg.a.37041. Epub 2015 Mar 28. Am J Med Genet A. 2015. PMID: 25820919
Nomenclature and definition in asymmetric regional body overgrowth.
Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC. Kalish JM, et al. Among authors: macchiaiolo m. Am J Med Genet A. 2017 Jul;173(7):1735-1738. doi: 10.1002/ajmg.a.38266. Epub 2017 May 5. Am J Med Genet A. 2017. PMID: 28475229 Free PMC article.
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: macchiaiolo m. 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.
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
Cambiaso P, Galassi S, Palmiero M, Mastronuzzi A, Del Bufalo F, Capolino R, Cacchione A, Buonuomo PS, Gonfiantini MV, Bartuli A, Cappa M, Macchiaiolo M. Cambiaso P, et al. Among authors: macchiaiolo m. Am J Med Genet A. 2017 Sep;173(9):2353-2358. doi: 10.1002/ajmg.a.38308. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631895
Statin-associated myopathy in pediatric settings: Myth or fact?
Buonuomo PS, Macchiaiolo M, Mastrogiorgio G, Rana I, Gonfiantini MV, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. J Pediatr. 2017 Dec;191:279. doi: 10.1016/j.jpeds.2017.08.056. Epub 2017 Sep 28. J Pediatr. 2017. PMID: 28964429 No abstract available.
70 results