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Page 1
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.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C. Negri G, et al. Among authors: bonati mt. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26486927
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.
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P. Castronovo C, et al. Among authors: bonati mt. Mol Cytogenet. 2013 Oct 30;6(1):45. doi: 10.1186/1755-8166-6-45. Mol Cytogenet. 2013. PMID: 24171812 Free PMC 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
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.
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.
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
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.
56 results