Débora Cabral Coutinho

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BACKGROUND Few children born small for gestational age (SGA) with IGF1 mutations have been reported. One of these patients presented a mutation at 3' untranslated region (UTR) at exon 6, probably affecting the polyadenylation process. OBJECTIVE The objective of the study was to sequence the IGF1 gene of children born SGA. PATIENTS AND METHODS IGF1(More)
Approximately 10% of children born small-for-gestational age (SGA) do not show spontaneous growth catch-up. The causes of this deficit in prenatal growth and its maintenance after birth are not completely known, in most cases. Over the past eight years, several heterozygous inactivating mutations and deletions in IGF1R gene have been reported, indicating(More)
BACKGROUND Hypomethylation of the paternal imprinting center region 1 (ICR1) is the most frequent molecular cause of Silver-Russell syndrome (SRS). Clinical evidence suggests that patients with this epimutation have mild IGF1 insensitivity. OBJECTIVE To assess in vitro IGF1 action in fibroblast culture from a patient with SRS and IGF1 insensitivity. (More)
Background: Hypomethylation of the paternal imprinting center region 1 (ICR1) is the most frequent molecular cause of Silver–Russell syndrome (SRS). Clinical evidence suggests that patients with this epimutation have mild IGF1 insensitivity. Objective: To assess in vitro IGF1 action in fibroblast culture from a patient with SRS and IGF1 insensitivity.(More)
BACKGROUND Insulin-like growth factor 1 insensitivity caused by IGF1R mutations has been previously identified as one of the causes of growth impairment in children born small for gestational age (SGA). OBJECTIVE To analyse the IGF1R in children born SGA. SUBJECTS From an initial cohort of 54 sequential children born SGA, without catch-up growth, 25(More)
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