Anna Dolcetta-Capuzzo
Overview
Explore the profile of Anna Dolcetta-Capuzzo including associated specialties, affiliations and a list of published articles.
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3
Citations
65
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Recent Articles
1.
Groeneweg S, van Geest F, Martin M, Dias M, Frazer J, Medina-Gomez C, et al.
Nat Commun
. 2025 Mar;
16(1):2479.
PMID: 40075072
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked...
2.
Groeneweg S, van Geest F, Abaci A, Alcantud A, Ambegaonkar G, Armour C, et al.
Lancet Diabetes Endocrinol
. 2020 Jun;
8(7):594-605.
PMID: 32559475
Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic...
3.
Groeneweg S, Kersseboom S, van den Berge A, Dolcetta-Capuzzo A, van Geest F, van Heerebeek R, et al.
Thyroid
. 2019 Aug;
29(10):1499-1510.
PMID: 31436139
Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) cause MCT8 deficiency, characterized by severe intellectual and motor disability and abnormal serum thyroid function tests. Various knock-out mouse...
4.
Dolcetta-Capuzzo A, Villa V, Albarello L, Franchi G, Gemma M, Scavini M, et al.
Cancer
. 2012 Jun;
119(1):36-44.
PMID: 22744914
Background: Gastroenteric neuroendocrine neoplasms (GE-NENs) display highly variable clinical behavior. In an attempt to assess a better prognostic description, in 2010, the World Health Organization (WHO) updated its previous classification,...