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Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype

Autor: M. Poscente, M. Assumma, Paola Grammatico, Barbara Grammatico, E. Buffone, C. De Bernardo, Rosanna Rinaldi

Publikováno v: American Journal of Medical Genetics. :122-126

We report on a newborn with severe psychomotor retardation, minor anomalies, congenital heart defects, thumb and urogenital abnormalities. Cytogenetic analysis showed a 4q24qter duplication, never described before, as the result of a de novo t(4;14).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153c3d36becfcfd101c59e43a94262c7
https://doi.org/10.1002/ajmg.a.10093

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Umbilical cord interleukin-6 levels are elevated in term neonates with perinatal asphyxia

Autor: C, Chiesa, G, Pellegrini, A, Panero, T, De Luca, M, Assumma, F, Signore, L, Pacifico

Publikováno v: European journal of clinical investigation. 33(4)

A correlation between elevation of pro-inflammatory cytokines and white matter injury or abnormal neurologic outcome has been established in the preterm infant. In the full-term neonate, few studies exist linking elevation of cytokines with encephalo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7fede8ef98cae32236087e9753b8ebd0
https://pubmed.ncbi.nlm.nih.gov/12662167

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Serial measurements of C-reactive protein and interleukin-6 in the immediate postnatal period: Reference intervals and analysis of maternal and perinatal confounders

Autor: C, Chiesa, F, Signore, M, Assumma, E, Buffone, P, Tramontozzi, J F, Osborn, L, Pacifico

There is a wide range of reported sensitivities and specificities for C-reactive protein (CRP) and interleukin-6 (IL-6) in the detection of early-onset neonatal infection. This prompted us to assess reference intervals for CRP and IL-6 during the 48-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::055e7fa9b3c0000ac7efc8e1f36e4c9c
http://hdl.handle.net/11573/255794

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