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Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Romano F, Madia F, De Marco P, Ognibene M, Guerrisi S, Scala M, Iacomino M, Baldassari S, Vercellino N, Manunza F, Tallone R, Pavanello M, Piatelli G, Garaventa A, Zara F, Capra V. Romano F, et al. Among authors: zara f. Birth Defects Res. 2022 Dec 1;114(20):1440-1448. doi: 10.1002/bdr2.2113. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345927
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: zara f. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Baskin JM, Wu X, Christiano R, Oh MS, Schauder CM, Gazzerro E, Messa M, Baldassari S, Assereto S, Biancheri R, Zara F, Minetti C, Raimondi A, Simons M, Walther TC, Reinisch KM, De Camilli P. Baskin JM, et al. Among authors: zara f. Nat Cell Biol. 2016 Jan;18(1):132-8. doi: 10.1038/ncb3271. Epub 2015 Nov 16. Nat Cell Biol. 2016. PMID: 26571211 Free PMC article.
White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Among authors: zara f. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F. Lund C, et al. Among authors: zara f. Mol Syndromol. 2016 Sep;7(4):234-238. doi: 10.1159/000448367. Epub 2016 Aug 17. Mol Syndromol. 2016. PMID: 27781033 Free PMC article.
511 results