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Page 1
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Among authors: bonati mt. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S. Vimercati A, et al. Among authors: bonati mt. Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023. Front Genet. 2023. PMID: 37529781 Free PMC article.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: bonati mt. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S. Tannorella P, et al. Among authors: bonati mt. Clin Epigenetics. 2022 Mar 22;14(1):43. doi: 10.1186/s13148-022-01262-2. Clin Epigenetics. 2022. PMID: 35317853 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.
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Nanetti L, Di Bella D, Magri S, Fichera M, Sarto E, Castaldo A, Mongelli A, Baratta S, Fenu S, Moscatelli M, Bonati MT, Martinuzzi A, Mariotti C, Taroni F. Nanetti L, et al. Among authors: bonati mt. Front Neurol. 2022 Jan 6;12:793547. doi: 10.3389/fneur.2021.793547. eCollection 2021. Front Neurol. 2022. PMID: 35069422 Free PMC article.
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G. Elli FM, et al. Among authors: bonati mt. J Bone Miner Res. 2022 Mar;37(3):465-474. doi: 10.1002/jbmr.4490. Epub 2022 Jan 17. J Bone Miner Res. 2022. PMID: 34897794 Free PMC article.
55 results