CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.

CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.

BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was...
Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.

LMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown. Herein, using mouse pluripotent...
J Clin Invest - issue: 1 - volume: 131 - pages: 136488.

We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of...
Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.

We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of...
Arch Pediatr - issue: 1 - volume: 28 - pages: 87-92.

Endocrine - issue: 1 - volume: 71 - pages: 265.

Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite...
Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.

OBJECTIVE: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study...
Eur J Endocrinol - issue: 1 - volume: 184 - pages: 1-8.

OBJECTIVE: After surgery, when somatostatin analogs (SAs) do not normalise IGF-I, pegvisomant (PEG) is indicated. Our aim was to define the medical reasons for the treatment of patients with PEG as...
Endocrine - issue: 1 - volume: 71 - pages: 158-167.

Endothelial cells covering the aortic and ventricular sides of the aortic valve leaflets are exposed to different stresses, in particular wall shear stress (WSS). Biomechanical stimuli actively...
Int J Cardiol - issue: - volume: 323 - pages: 220-228.

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities....
- issue: - volume: - pages: .

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Parasellar spaces remain particularly singular, comprising the most important neurovascular structures such as the internal carotid artery and optic, oculomotor, and trigeminal nerves. Meningiomas...
Neuroendocrinology - issue: 9-10 - volume: 110 - pages: 780-796.

BACKGROUND: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this...
Horm Res Paediatr - issue: 1 - volume: 93 - pages: 30-39.

While chromosome 1p36 deletion syndrome is one of the most common terminal subtelomeric microdeletion syndrome, 1p36 microduplications are rare events. Polymicrogyria (PMG) is a brain malformation...
Eur J Hum Genet - issue: 12 - volume: 28 - pages: 1703-1713.

Calcific aortic valve disease (CAVD) is a significant cause of illness and death worldwide. Identification of early predictive markers could help optimize patient management. RNA-sequencing was...
Physiol Genomics - issue: 52 - volume: 12 - pages: 563-574.

Pasireotide, a multireceptor-targeted somatostatin analog with highest affinity for somatostatin receptor subtype (SST) 5, has demonstrated superior efficacy over the SST2-preferential somatostatin...
Endocr Connect - issue: 12 - volume: 9 - pages: 1178-1190.

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. AIMS: 1) To record current...
Eur J Endocrinol - issue: - volume: - pages: .

INTRODUCTION: The low prevalence of pituitary diseases makes patient autonomy crucial, and self-management programs should be more common. OBJECTIVES: To assess the efficacy of an education program...
Eur J Endocrinol - issue: 6 - volume: 183 - pages: 551-559.