Detalhe da pesquisa
1.
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Pediatr Diabetes
; 23(4): 457-461, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294086
2.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605124
3.
Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.
medRxiv
; 2023 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214872
4.
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Nat Med
; 29(10): 2438-2457, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794253
5.
Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism: A Finnish Population-Based Study.
J Clin Endocrinol Metab
; 106(4): e1542-e1551, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475139
6.
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170320
7.
Health-Related Quality of Life in Children With Congenital Hyperinsulinism.
Front Endocrinol (Lausanne)
; 10: 670, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31632349