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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: bonati mt. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: bonati mt. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Saettini F, Fazio G, Bonati MT, Moratto D, Massa V, Di Fede E, Castiglioni S, Marchetti D, Chiarini M, Sottini A, Iascone M, Cazzaniga G, Imberti L, Biondi A, Gervasini C, Badolato R. Saettini F, et al. Among authors: bonati mt. Am J Med Genet A. 2022 Jul;188(7):2129-2134. doi: 10.1002/ajmg.a.62719. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266289 Free article.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: bonati mt. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT. Ciammola A, et al. Among authors: bonati mt. Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26. Parkinsonism Relat Disord. 2017. PMID: 28851564
56 results