• 1058 Citations
  • 16 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.

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

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Research Output 1997 2019

  • 1058 Citations
  • 16 h-Index
  • 43 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
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

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Galazzi, E., Duminuco, P., Moro, M., Guizzardi, F., Marazzi, N., Sartorio, A., Avignone, S., Bonomi, M., Persani, L. & Bonati, M. T., Dec 1 2018, In : Endocrine Connections. 7, 12, p. 1432-1441 10 p.

Research output: Contribution to journalArticle

Hypogonadism
Delayed Puberty
Nipples
Apocrine Glands
Haploinsufficiency

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Galazzi, E., Duminuco, P., Moro, M., Guizzardi, F., Marazzi, N., Sartorio, A., Avignone, S., Bonomi, M., Persani, L. & Bonati, M. T., Dec 1 2018, In : Endocrine Connections. 7, 12, p. 1432-1441 10 p.

Research output: Contribution to journalArticle