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Research Output 2017 2019

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Article
2019

Neonatal Screening for Congenital Hypothyroidism: What Can We Learn from Discordant Twins

Medda, E., Vigone, M. C., Cassio, A., Calaciura, F., Costa, P., Weber, G., De Filippis, T., Gelmini, G., Di Frenna, M., Caiulo, S., Ortolano, R., Rotondi, D., Bartolucci, M., Gelsomino, R., De Angelis, S., Gabbianelli, M., Persani, L. & Olivieri, A., Aug 13 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 12, p. 5765-5779 15 p.

Research output: Contribution to journalArticle

Neonatal Screening
Congenital Hypothyroidism
Screening
Newborn Infant
Hypothyroidism
2017

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., Jul 1 2017, In : Human Molecular Genetics. 26, 13, p. 2507-2514 8 p.

Research output: Contribution to journalArticle

Congenital Hypothyroidism
Intellectual Disability
Genes

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., Jul 1 2017, In : Human Molecular Genetics. 26, 13, p. 2507-2514 8 p.

Research output: Contribution to journalArticle

Congenital Hypothyroidism
Genes
Phenotype
Pedigree
Computational Biology

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

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

Mild TSH resistance: clinical and hormonal features in childhood and adulthood

Vigone, MC., Di Frenna, M., Guizzardi, F., Gelmini, G., de Filippis, T., Mora, S., Caiulo, S., Sonnino, M., Bonomi, M., Persani, L. & Weber, G., 2017, In : Clinical Endocrinology. 87, 5, p. 587-596 10 p.

Research output: Contribution to journalArticle

Thyrotropin Receptors
Thyroid Gland
Pediatrics
Hypothyroidism
Bone Density