• 1081 Citations
  • 17 h-Index
19972019
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Fingerprint Dive into the research topics where Maria Teresa Bonati is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 15 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Nicotinic Receptors Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Cyclin-Dependent Kinase 5 Medicine & Life Sciences
Mosaicism Medicine & Life Sciences

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Research Output 1997 2019

  • 1081 Citations
  • 17 h-Index
  • 45 Article
  • 1 Letter

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., Novelli, A., Loddo, S., Dentici, M. L., Taylor, J., Devillard, F., Larizza, L. & Finelli, P., Jun 17 2019, In : Neurogenetics.

Research output: Contribution to journalArticle

Genes
Cytogenetics
Computer Simulation
Neurodevelopmental Disorders
Phenotype

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

Graziano, F., Biino, G., Bonati, M. T., Neale, B. M., Do, R., Concas, M. P., Vaccargiu, S., Pirastu, M., Terradura-Vagnarelli, O., Cirillo, M., Laurenzi, M., Mancini, M., Zanchetti, A. & Grassi, M., Jul 1 2019, In : Human Genetics. 138, 7, p. 739-748 10 p.

Research output: Contribution to journalArticle

Pedigree
Population
Hyperglycemia
Single Nucleotide Polymorphism
Adipose Tissue

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

Crippa, M., Bonati, M. T., Calzari, L., Picinelli, C., Gervasini, C., Sironi, A., Bestetti, I., Guzzetti, S., Bellone, S., Selicorni, A., Mussa, A., Riccio, A., Ferrero, G. B., Russo, S., Larizza, L. & Finelli, P., Oct 15 2019, In : Frontiers in Genetics. 10, 955.

Research output: Contribution to journalArticle

Open Access
Comparative Genomic Hybridization
Phenotype
Growth Disorders
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 7
1 Citation (Scopus)

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

Crippa, M., Giangiobbe, S., Villa, R., Bestetti, I., De Filippis, T., Fatti, L., Taurino, J., Larizza, L., Persani, L., Bellini, F., Finelli, P. & Bonati, M. T., Aug 1 2018, In : Journal of Endocrinological Investigation. 41, 8, p. 929-936 8 p.

Research output: Contribution to journalArticle

Phenotype
Genes
Growth
Osteochondritis Dissecans
Haploinsufficiency

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C., Stegmann, A. P. A., Stöbe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., Dec 31 2018, In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Exome
Intellectual Disability
Clustered Regularly Interspaced Short Palindromic Repeats
Axonal Transport
Corpus Callosum