Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

K Busiah, S Drunat, L Vaivre-Douret… - The lancet Diabetes & …, 2013 - thelancet.com
Background Neonatal diabetes mellitus is a rare genetic form of pancreatic β-cell
dysfunction. We compared phenotypic features and clinical outcomes according to genetic …

Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients

S Salenave, D Ancelle, T Bahougne… - The Journal of …, 2015 - academic.oup.com
Background: Pituitary adenomas are rare in children and adolescents. The response of
macroprolactinomas to dopamine agonists (DA) in this age group has been less extensively …

[HTML][HTML] Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

T Brue, MH Quentien, K Khetchoumian, M Bensa… - BMC medical …, 2014 - Springer
Background DAVID syndrome is a rare condition combining anterior pituitary hormone
deficiency with common variable immunodeficiency. NFKB2 mutations have recently been …

International comparison of glycaemic control in people with type 1 diabetes: an update and extension

R Prigge, JA McKnight, SH Wild, A Haynes… - Diabetic …, 2022 - Wiley Online Library
Aims To update and extend a previous cross‐sectional international comparison of
glycaemic control in people with type 1 diabetes. Methods Data were obtained for 520,392 …

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

F Roucher-Boulez, D Mallet-Motak… - European journal of …, 2016 - academic.oup.com
Objective Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes
recently discovered in familial glucocorticoid deficiencies (FGD), is involved in reactive …

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections

MH Quentien, B Delemer… - The Journal of …, 2012 - academic.oup.com
Context: Among 22 independent patients from the GENHYPOPIT network who had ACTH
deficiency and no identified mutation of TPIT, three of them (13.6%) displayed common …

Metabolic control in children with diabetes mellitus who are younger than 6 years at diagnosis: continuous subcutaneous insulin infusion as a first line treatment?

V Sulmont, PF Souchon, C Gouillard-Darnaud… - The Journal of …, 2010 - Elsevier
OBJECTIVE: To assess long-term metabolic outcomes in children with diabetes mellitus that
was diagnosed when they were< 6 years old. STUDY DESIGN: A cohort of 66 children with …

Increasing knowledge in IGF1R defects: lessons from 35 new patients

E Giabicani, M Willems, V Steunou… - Journal of medical …, 2020 - jmg.bmj.com
Background The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal
growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients …

Early formation of serum advanced glycation end-products in children with type 1 diabetes mellitus: relationship with glycemic control

S Jaisson, PF Souchon, A Desmons, AS Salmon… - The Journal of …, 2016 - Elsevier
Objectives To quantify serum advanced glycation end-products (AGEs) at the onset of type 1
diabetes mellitus and to determine their potential usefulness as retrospective indicators of …

Type 1 diabetic children have abnormal lipid profiles during pubertal years 1

M Polak, PF Souchon, K Benali… - Pediatric …, 2000 - Wiley Online Library
Aim/Hypothesis: To study the prevalence of hypercholesterolemia, hypertriglyceridemia and
the relationship between metabolic control, pubertal status and plasma lipoprotein levels in …