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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: di cara g. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: di venere e, di cara g. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Matricardi S, Bonanni P, Iapadre G, Elia M, Cesaroni E, Danieli A, Negrin S, Zagaroli L, Operto FF, Carotenuto M, Pisani F, Turco EC, Orsini A, Bonuccelli A, Savasta S, Concolino D, Di Cara G, Striano P, Verrotti A. Matricardi S, et al. Among authors: di cara g. Eur J Neurol. 2022 Jan;29(1):19-25. doi: 10.1111/ene.15104. Epub 2021 Oct 7. Eur J Neurol. 2022. PMID: 34519126
130 results