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Page 1
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: agolini e. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Pušenjak MŠ, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: agolini e. HGG Adv. 2022 Jul 12;3(4):100122. doi: 10.1016/j.xhgg.2022.100122. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 35860725 Free PMC article.
A nationwide genetic testing survey in Italy, year 2007.
Dallapiccola B, Torrente I, Agolini E, Morena A, Mingarelli R. Dallapiccola B, et al. Among authors: agolini e. Genet Test Mol Biomarkers. 2010 Feb;14(1):17-22. doi: 10.1089/gtmb.2009.0097. Genet Test Mol Biomarkers. 2010. PMID: 19929427
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pietrobattista A, Spada M, Candusso M, Boenzi S, Dionisi-Vici C, Francalanci P, Morrone A, Ferri L, Indolfi G, Agolini E, Giordano G, Monti L, Maggiore G, Knisely AS. Pietrobattista A, et al. Among authors: agolini e. Pediatr Transplant. 2022 Sep;26(6):e14318. doi: 10.1111/petr.14318. Epub 2022 May 28. Pediatr Transplant. 2022. PMID: 35633129
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Cacchione A, Fabozzi F, Carai A, Colafati GS, Baldo GD, Rossi S, Diana M, Megaro G, Milano GM, Macchiaiolo M, Crocoli A, De Ioris MA, Boccuto L, Secco DE, Zama M, Agolini E, Tomà P, Mastronuzzi A. Cacchione A, et al. Among authors: agolini e. Cancer Control. 2023 Jan-Dec;30:10732748221144930. doi: 10.1177/10732748221144930. Cancer Control. 2023. PMID: 36598023 Free PMC article.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B. Radio FC, et al. Among authors: agolini e. Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3. Mol Genet Genomic Med. 2018. PMID: 29500860 Free PMC article.
122 results