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102 results

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Among authors: colafati gs. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Agolini E, et al. Among authors: colafati gs. Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5. Clin Genet. 2021. PMID: 33733458
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, Dentici ML, Buonuomo PS, Rana I, Colafati GS, Digilio MC, Novelli A, Bartuli A. Vecchio D, et al. Among authors: colafati gs. Clin Genet. 2022 Aug;102(2):142-148. doi: 10.1111/cge.14150. Epub 2022 May 21. Clin Genet. 2022. PMID: 35575217 Free PMC article.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A. Paparella R, et al. Among authors: colafati gs. Am J Med Genet A. 2022 Sep;188(9):2796-2802. doi: 10.1002/ajmg.a.62869. Epub 2022 Jun 11. Am J Med Genet A. 2022. PMID: 35689525 Free PMC article.
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening.
Giannini R, Agolini E, Palumbo G, Novelli A, Garone G, Grasso M, Colafati GS, Matraxia M, Piccirilli E, Deodati A, Ceglie G. Giannini R, et al. Among authors: colafati gs. Front Pediatr. 2024 Jan 12;12:1319885. doi: 10.3389/fped.2024.1319885. eCollection 2024. Front Pediatr. 2024. PMID: 38283630 Free PMC article.
BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas.
Del Bufalo F, Ceglie G, Cacchione A, Alessi I, Colafati GS, Carai A, Diomedi-Camassei F, De Billy E, Agolini E, Mastronuzzi A, Locatelli F. Del Bufalo F, et al. Among authors: colafati gs. Front Oncol. 2018 Nov 14;8:526. doi: 10.3389/fonc.2018.00526. eCollection 2018. Front Oncol. 2018. PMID: 30488019 Free PMC article.
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome.
Petruzzellis G, Valentini D, Del Bufalo F, Ceglie G, Carai A, Colafati GS, Agolini E, Diomedi-Camassei F, Corsetti T, Alessi I, Mastronuzzi A, Locatelli F, Cacchione A. Petruzzellis G, et al. Among authors: colafati gs. Front Oncol. 2019 Apr 12;9:277. doi: 10.3389/fonc.2019.00277. eCollection 2019. Front Oncol. 2019. PMID: 31032231 Free PMC article.
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Carta R, et al. Among authors: colafati gs. Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. Front Oncol. 2020. PMID: 33194646 Free PMC article. Review.
102 results