Search details
1.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
J Med Genet
; 61(5): 411-419, 2024 Apr 19.
Article
in English
| MEDLINE | ID: mdl-38290824
2.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Mol Genet Metab
; 141(3): 108123, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38219674
3.
[Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)]. / Prise en charge interdisciplinaire des adolescent-e-s transgenres et non binaires. L'exemple du Centre hospitalier universitaire vaudois (CHUV).
Rev Med Suisse
; 20(870): 802-806, 2024 Apr 17.
Article
in French
| MEDLINE | ID: mdl-38630041
4.
[Monogenic diabetes : a pioneer in precision medicine management]. / Diabète monogénique : pionnier dans la prise en charge par la médecine de précision.
Rev Med Suisse
; 19(815): 362-367, 2023 Feb 22.
Article
in French
| MEDLINE | ID: mdl-36815326
5.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Article
in English
| MEDLINE | ID: mdl-28757203
6.
[Polycystic ovary syndrome in obese or type 1 diabetic (T1D) adolescent girls]. / Syndrome des ovaires polykystiques chez l'adolescente diabétique ou obèse.
Rev Med Suisse
; 16(710): 1941-1944, 2020 Oct 14.
Article
in French
| MEDLINE | ID: mdl-33058582
7.
Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.
Pediatr Diabetes
; 20(3): 246-254, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30684309
8.
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.
Pediatr Diabetes
; 19(3): 381-387, 2018 05.
Article
in English
| MEDLINE | ID: mdl-28940958
9.
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities.
Pediatr Diabetes
; 19(4): 663-669, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29504184
10.
The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.
Epilepsy Behav
; 69: 170-176, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28089368
11.
Evaluation of the pharmacokinetics of glibenclamide tablet given, off label, orally to children suffering from neonatal syndromic hyperglycemia.
Eur J Clin Pharmacol
; 72(11): 1373-1379, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27561267
12.
Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved.
Front Endocrinol (Lausanne)
; 14: 1190670, 2023.
Article
in English
| MEDLINE | ID: mdl-37560299
13.
Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor Treatment.
J Clin Endocrinol Metab
; 108(9): e823-e831, 2023 08 18.
Article
in English
| MEDLINE | ID: mdl-36810692
14.
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
J Biol Chem
; 286(32): 28414-24, 2011 Aug 12.
Article
in English
| MEDLINE | ID: mdl-21592955
15.
High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort.
J Clin Endocrinol Metab
; 107(5): e2156-e2166, 2022 04 19.
Article
in English
| MEDLINE | ID: mdl-34918112
16.
The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.
Horm Res Paediatr
; 94(11-12): 441-447, 2021.
Article
in English
| MEDLINE | ID: mdl-34638127
17.
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.
Ann Pediatr Endocrinol Metab
; 26(1): 60-65, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32871644
18.
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
Eur J Endocrinol
; 184(2): 347-355, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33361469
19.
Neonatal Diabetes Mellitus.
Front Pediatr
; 8: 540718, 2020.
Article
in English
| MEDLINE | ID: mdl-33102403
20.
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.
Diabetes Care
; 43(6): 1191-1199, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32273272