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Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: accadia m. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Stress Echocardiography in Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
Ciampi Q, Pepi M, Antonini-Canterin F, Barbieri A, Barchitta A, Faganello G, Miceli S, Parato VM, Tota A, Trocino G, Abbate M, Accadia M, Alemanni R, Angelini A, Anglano F, Anselmi M, Aquila I, Aramu S, Avogadri E, Azzaro G, Badano L, Balducci A, Ballocca F, Barbarossa A, Barbati G, Barletta V, Barone D, Becherini F, Benfari G, Beraldi M, Bergandi G, Bilardo G, Binno SM, Bolognesi M, Bongiovi S, Bragato RM, Braggion G, Brancaleoni R, Bursi F, Dessalvi CC, Cameli M, Canu A, Capitelli M, Capra ACM, Carbonara R, Carbone M, Carbonella M, Carrabba N, Casavecchia G, Casula M, Chesi E, Cicco S, Citro R, Cocchia R, Colombo BM, Colonna P, Conte M, Corrado G, Cortesi P, Cortigiani L, Costantino MF, Cozza F, Cucchini U, D'Angelo M, Da Ros S, D'Andrea F, D'Andrea A, D'Auria F, De Caridi G, De Feo S, De Matteis GM, De Vecchi S, Del Giudice C, Dell'Angela L, Paoli LD, Dentamaro I, Destefanis P, Di Bella G, Di Fulvio M, Di Gaetano R, Di Giannuario G, Di Gioia A, Di Martino LFM, Di Muro C, Di Nora C, Di Salvo G, Dodi C, Dogliani S, Donati F, Dottori M, Epifani G, Fabiani I, Ferrara F, Ferrara L, Ferrua S, Filice G, Fiorino M, Forno D, Garini A, Giarratana GA, Gigantino G, Giorgi M, Giubert… See abstract for full author list ➔ Ciampi Q, et al. Among authors: accadia m. J Cardiovasc Echogr. 2023 Jul-Sep;33(3):125-132. doi: 10.4103/jcecho.jcecho_48_23. Epub 2023 Nov 20. J Cardiovasc Echogr. 2023. PMID: 38161775 Free PMC article.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: accadia m. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
Organization and Activity of Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
Ciampi Q, Pepi M, Antonini-Canterin F, Barbieri A, Barchitta A, Faganello G, Miceli S, Parato VM, Tota A, Trocino G, Abbate M, Accadia M, Alemanni R, Angelini A, Anglano F, Anselmi M, Aquila I, Aramu S, Avogadri E, Azzaro G, Badano L, Balducci A, Ballocca F, Barbarossa A, Barbati G, Barletta V, Barone D, Becherini F, Benfari G, Beraldi M, Bergandi G, Bilardo G, Binno SM, Bolognesi M, Bongiovi S, Bragato RM, Braggion G, Brancaleoni R, Bursi F, Dessalvi CC, Cameli M, Canu A, Capitelli M, Capra ACM, Carbonara R, Carbone M, Carbonella M, Carrabba N, Casavecchia G, Casula M, Chesi E, Cicco S, Citro R, Cocchia R, Colombo BM, Colonna P, Conte M, Corrado G, Cortesi P, Cortigiani L, Costantino MF, Cozza F, Cucchini U, D'Angelo M, Ros SD, D'Andrea F, D'Andrea A, D'Auria F, De Caridi G, De Feo S, De Matteis GM, De Vecchi S, Giudice CD, Dell'Angela L, Paoli LD, Dentamaro I, Destefanis P, Di Fulvio M, Di Gaetano R, Di Giannuario G, Di Gioia A, Di Martino LFM, Di Muro C, Di Nora C, Di Salvo G, Dodi C, Dogliani S, Donati F, Dottori M, Epifani G, Fabiani I, Ferrara F, Ferrara L, Ferrua S, Filice G, Fiorino M, Forno D, Garini A, Giarratana GA, Gigantino G, Giorgi M, Giubertoni E, Greco CA, … See abstract for full author list ➔ Ciampi Q, et al. Among authors: accadia m. J Cardiovasc Echogr. 2023 Jan-Mar;33(1):1-9. doi: 10.4103/jcecho.jcecho_16_23. Epub 2023 May 29. J Cardiovasc Echogr. 2023. PMID: 37426716 Free PMC article.
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P, Macchiaiolo M, Collotta M, Montanaro FAM, Caciolo C, Cumbo F, Galassi P, Panfili FM, Cortellessa F, Zollino M, Accadia M, Seri M, Tartaglia M, Bartuli A, Mammì C, Vicari S, Priolo M. Alfieri P, et al. Among authors: accadia m. J Clin Med. 2022 Jul 14;11(14):4078. doi: 10.3390/jcm11144078. J Clin Med. 2022. PMID: 35887841 Free PMC article.
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Macchiaiolo M, Panfili FM, Vecchio D, Gonfiantini MV, Cortellessa F, Caciolo C, Zollino M, Accadia M, Seri M, Chinali M, Mammì C, Tartaglia M, Bartuli A, Alfieri P, Priolo M. Macchiaiolo M, et al. Among authors: accadia m. Orphanet J Rare Dis. 2022 Jun 18;17(1):235. doi: 10.1186/s13023-022-02384-9. Orphanet J Rare Dis. 2022. PMID: 35717370 Free PMC article.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: accadia m. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: accadia m. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
53 results