Detalhe da pesquisa
1.
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
2.
A hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia.
Pediatr Int;
65(1): e15707, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037506
3.
Restoration of coronary microvascular function by OGA overexpression in a high-fat diet with low-dose streptozotocin-induced type 2 diabetic mice.
Diab Vasc Dis Res;
20(3): 14791641231173630, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186669
4.
SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees.
Hum Mol Genet;
32(1): 55-64, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35921234
5.
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab;
107(12): 3341-3352, 2022 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071550
6.
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
7.
Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.
Endocrinology;
163(1)2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662386
8.
HuR/Cx40 downregulation causes coronary microvascular dysfunction in type 2 diabetes.
JCI Insight;
6(21)2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747371
9.
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.
Int J Neonatal Screen;
7(3)2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209888
10.
Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.
Hum Mol Genet;
30(7): 564-574, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709141
11.
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
12.
Chronic Hypoxia Decreases Endothelial Connexin 40, Attenuates Endothelium-Dependent Hyperpolarization-Mediated Relaxation in Small Distal Pulmonary Arteries, and Leads to Pulmonary Hypertension.
J Am Heart Assoc;
9(24): e018327, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307937
13.
Overexpression of p53 due to excess protein O-GlcNAcylation is associated with coronary microvascular disease in type 2 diabetes.
Cardiovasc Res;
116(6): 1186-1198, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504245
14.
Chloroquine differentially modulates coronary vasodilation in control and diabetic mice.
Br J Pharmacol;
177(2): 314-327, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503328
15.
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
16.
Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.
Pediatr Neurol;
100: 60-66, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31272782
17.
Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling.
J Cell Sci;
132(8)2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877223
18.
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the ß-subunit of the insulin receptor (INSR) gene.
J Diabetes;
11(1): 46-54, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29877041
19.
Pulmonary vascular dysfunction in metabolic syndrome.
J Physiol;
597(4): 1121-1141, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125956
20.
Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development.
Sci Rep;
8(1): 13263, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185873