Pituitary adenomas are common in the general population, and understanding their molecular
basis is of great interest. Combining chip-based technologies with genealogy data, we …

Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels
of fetal hemoglobin (HbF) in adults. Several contributory factors, both genetic and …

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs
in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and …

Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia
type 1 (MEN1) syndrome, but in up to 20–25% of clinical MEN1 cases, no MEN1 mutations …

Cyclin-dependent kinase inhibitors (CDKIs) are known targets to become deregulated in
various tumour types, including endocrine tumours. Typically, these cell cycle regulators are …

Introduction Early risk assessment is the mainstay of management of patients with sepsis.
APACHE II is the gold standard prognostic stratification system. A prediction rule that aimed to …

We developed a series of interrelated locus-specific databases to store all published and
unpublished genetic variation related to hemoglobinopathies and thalassemia and …

Background Heterogeneous results of published studies led to conduct a randomized
clinical trial to assess the efficacy of a new formulation of four probiotics as prophylaxis for …

Pituitary adenomas are common neoplasms of the anterior pituitary gland. Germ-line mutations
in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause pituitary adenoma …

We previously established the contribution of de novo damaging sequence variants to
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an …