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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
2004 1
2010 1
2011 1
2012 4
2013 6
2014 9
2015 3
2016 3
2017 8
2018 2
2019 2
2020 9
2021 9
2022 7
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57 results
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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Among authors: macchiaiolo m. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
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.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: macchiaiolo m. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.
Ancient Romans and Down Syndrome.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Bartuli A. Vecchio D, et al. Among authors: macchiaiolo m. Pediatr Res. 2021 Dec;90(6):1266-1267. doi: 10.1038/s41390-021-01366-0. Epub 2021 Feb 2. Pediatr Res. 2021. PMID: 33531671 No abstract available.
Cervical lung herniation.
Bottaro G, Tomà P, Masci M, Rana I, Buonuomo PS, Macchiaiolo M. Bottaro G, et al. Among authors: macchiaiolo m. Arch Dis Child. 2017 Oct;102(10):902. doi: 10.1136/archdischild-2016-311926. Epub 2017 Jan 18. Arch Dis Child. 2017. PMID: 28100462 No abstract available.
Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1.
Cacchione A, Carboni A, Lodi M, Vito R, Carai A, Marrazzo A, Macchiaiolo M, Voicu IP, Mastronuzzi A, Colafati GS. Cacchione A, et al. Among authors: macchiaiolo m. Diagnostics (Basel). 2021 Feb 2;11(2):218. doi: 10.3390/diagnostics11020218. Diagnostics (Basel). 2021. PMID: 33540839 Free PMC article.
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D'Agostini M, Porzio O, De Martino V, Minisola S, Macchiaiolo M, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A. Rossi M, et al. Among authors: macchiaiolo m. FASEB J. 2021 Mar;35(3):e21424. doi: 10.1096/fj.202001904RR. FASEB J. 2021. PMID: 33609323
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A. Mastrogiorgio G, et al. Among authors: macchiaiolo m. Orphanet J Rare Dis. 2021 Mar 1;16(1):112. doi: 10.1186/s13023-021-01731-6. Orphanet J Rare Dis. 2021. PMID: 33648541 Free PMC article.
Statins in children: A monocentric experience.
Buonuomo PS, Mastrogiorgio G, Macchiaiolo M, Rana I, Gonfiantini MV, Marafon DP, Bartuli A. Buonuomo PS, et al. Among authors: macchiaiolo m. J Clin Lipidol. 2018 Sep-Oct;12(5):1326-1327. doi: 10.1016/j.jacl.2018.06.009. Epub 2018 Jun 26. J Clin Lipidol. 2018. PMID: 30033004 No abstract available.
Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.
Lo Bianco M, Vecchio D, Timpanaro TA, Arena A, Macchiaiolo M, Bartuli A, Sciuto L, Presti S, Sciuto S, Sapuppo A, Fiumara A, Marino L, Messina G, Pavone P. Lo Bianco M, et al. Among authors: macchiaiolo m. Brain Sci. 2020 Jul 15;10(7):451. doi: 10.3390/brainsci10070451. Brain Sci. 2020. PMID: 32679641 Free PMC article.
57 results