Detalhe da pesquisa
1.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Hum Mol Genet
; 31(13): 2223-2235, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134173
2.
Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.
Clin Endocrinol (Oxf)
; 94(6): 940-948, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595839
3.
The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients.
Clin Endocrinol (Oxf)
; 94(2): 229-236, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001476
4.
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.
J Hum Genet
; 64(2): 177-181, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30443000
5.
Identification and Characterization of Daurichromenic Acid Synthase Active in Anti-HIV Biosynthesis.
Plant Physiol
; 174(4): 2213-2230, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679557
6.
Impact of the Omicron Strain on Febrile Convulsions Requiring Hospitalization in Children: A Single-Center Observational Study.
Pediatr Rep
; 16(2): 399-409, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38804377
7.
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
; 109(3): 750-760, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804107
8.
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Front Endocrinol (Lausanne)
; 13: 1033074, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36743925
9.
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
Clin Pediatr Endocrinol
; 30(4): 155-161, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34629737
10.
Effect of interaction between a specific subtype of child abuse and the FKBP5 rs1360780 SNP on DNA methylation among patients with bipolar disorder.
J Affect Disord
; 272: 417-422, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553385
11.
Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants.
Endocrine
; 70(1): 71-77, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617755
12.
Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases.
Clin Pediatr Endocrinol
; 28(4): 105-112, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666763
13.
Relationship between the subtypes of child abuse and affective temperaments: Comparison of depression and bipolar disorder patients and healthy controls using the reclassified Child Abuse and Trauma Scale.
J Affect Disord
; 257: 396-403, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31306990
14.
COVID-19 pandemic-altered epidemiology of pediatric infectious diseases and vasculitis: A single-center observational study.
Int J Rheum Dis
; 26(12): 2592-2595, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436041
15.
Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations.
Brain Dev
; 40(2): 107-115, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801087
16.
Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.
Endocrine
; 61(1): 76-82, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691808
17.
Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 2.
J Diabetes
; 10(5): 421-422, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29280567