• 100 Citations
  • 5 h-Index
20172018
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Fingerprint Dive into the research topics where Tiziana De Filippis is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Congenital Hypothyroidism Medicine & Life Sciences
Genes Medicine & Life Sciences
Endocrine System Diseases Medicine & Life Sciences
Thyrotropin Receptors Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences

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Research Output 2017 2018

  • 100 Citations
  • 5 h-Index
  • 6 Article
  • 2 Review article
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
4 Citations (Scopus)
Endocrine System Diseases
Exome
Genetic Association Studies
Research
Terminology
6 Citations (Scopus)

Genetics and management of congenital hypothyroidism

Persani, L., Rurale, G., de Filippis, T., Galazzi, E., Muzza, M. & Fugazzola, L., Aug 1 2018, In : Best Practice and Research: Clinical Endocrinology and Metabolism. 32, 4, p. 387-396 10 p.

Research output: Contribution to journalReview article

Congenital Hypothyroidism
Thyroid Dysgenesis
Genes
Phenotype
Penetrance
22 Citations (Scopus)

A frequent oligogenic involvement in congenital hypothyroidism

de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, MC., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., Radetti, G., Salerno, M., Ardissino, D., Weber, G., Gentilini, D., Guizzardi, F., Duga, S. & Persani, L., 2017, In : Human Molecular Genetics. 26, 13, p. 2507-2514 8 p.

Research output: Contribution to journalArticle

Congenital Hypothyroidism
Intellectual Disability
Genes
22 Citations (Scopus)

A frequent oligogenic involvement in congenital hypothyroidism

de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, M. C., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., Radetti, G., Salerno, M., Ardissino, D., Weber, G., Gentilini, D., Guizzardi, F., Duga, S. & Persani, L., 2017, In : Human Molecular Genetics. 26, 13, p. 2507-2514 8 p.

Research output: Contribution to journalArticle