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Page 1
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: dentici ml. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: dentici ml. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
Williams-Beuren syndrome shapes the gut microbiota metaproteome.
Marzano V, Levi Mortera S, Vernocchi P, Del Chierico F, Marangelo C, Guarrasi V, Gardini S, Dentici ML, Capolino R, Digilio MC, Di Donato M, Spasari I, Abreu MT, Dallapiccola B, Putignani L. Marzano V, et al. Among authors: dentici ml. Sci Rep. 2023 Nov 3;13(1):18963. doi: 10.1038/s41598-023-46052-9. Sci Rep. 2023. PMID: 37923896 Free PMC article.
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M. Revencu N, et al. Among authors: dentici ml. Orphanet J Rare Dis. 2024 May 22;19(1):213. doi: 10.1186/s13023-024-03196-9. Orphanet J Rare Dis. 2024. PMID: 38778413 Free PMC article.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: dentici ml. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: dentici ml. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: dentici ml. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
108 results