Search Results - "Vignola, Maria Lillina"
-
1
Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland
Published in eLife (17-08-2023)“…Co-regulated genes of the Imprinted Gene Network are involved in the control of growth and body size, and imprinted gene dysfunction underlies human paediatric…”
Get full text
Journal Article -
2
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
Published in Human molecular genetics (15-11-2017)“…Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex…”
Get full text
Journal Article -
3
Mapping regulatory elements at the DLK1 locus involved in the pathogenesis of human fetal growth restriction
Published in Placenta (Eastbourne) (07-09-2023)Get full text
Journal Article -
4
Quantitative lineage analysis identifies a hepato-pancreato-biliary progenitor niche
Published in Nature (London) (02-09-2021)“…Studies based on single cells have revealed vast cellular heterogeneity in stem cell and progenitor compartments, suggesting continuous differentiation…”
Get full text
Journal Article -
5
Dysgenesis and dysfunction of pancreas and pituitary due to FOXA2 gene defects
Published in The journal of clinical endocrinology and metabolism (01-10-2021)“…Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extra-pituitary abnormalities…”
Get full text
Journal Article -
6
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Published in Nature communications (01-04-2021)“…Germline mutations in BRAF and other components of the MAPK pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we…”
Get full text
Journal Article