Found: 21
Select item for more details and to access through your institution.
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0350-6
- By:
- Publication type:
- Article
The Relationship in Japanese Infants between a Genetic Polymorphism in the Promoter Region of the Insulin-Like Growth Factor I Gene and the Plasma Level.
- Published in:
- Neonatology (16617800), 2007, v. 92, n. 2, p. 116, doi. 10.1159/000101062
- By:
- Publication type:
- Article
A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Arterial stiffness in junior high school students: Longitudinal observations.
- Published in:
- Pediatrics International, 2018, v. 60, n. 2, p. 127, doi. 10.1111/ped.13475
- By:
- Publication type:
- Article
Traumatic herniation of the buccal fat pad.
- Published in:
- Pediatrics International, 2016, v. 58, n. 7, p. 613, doi. 10.1111/ped.12852
- By:
- Publication type:
- Article
Aging-associated impairment in metabolic compensation by subcutaneous adipose tissue promotes diet-induced fatty liver disease in mice.
- Published in:
- Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 1473, doi. 10.2147/DMSO.S214093
- By:
- Publication type:
- Article
Case of Infantile Alagille Syndrome With Severe Dyslipidemia: New Insight into Lipid Metabolism and Therapeutics.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 3, p. 1, doi. 10.1210/jendso/bvac005
- By:
- Publication type:
- Article
Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs<sup>∗</sup>2).
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 1, p. 125, doi. 10.1515/jpem-2021-0436
- By:
- Publication type:
- Article
Association of Type 2 Deiodinase Thr92Ala Polymorphism with Pediatric Obesity in Japanese Children: A Case-Control Study.
- Published in:
- Children, 2022, v. 9, n. 10, p. 1421, doi. 10.3390/children9101421
- By:
- Publication type:
- Article
A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0043-0
- By:
- Publication type:
- Article
Miglitol increases energy expenditure by upregulating uncoupling protein 1 of brown adipose tissue and reduces obesity in dietary-induced obese mice.
- Published in:
- Nutrition & Metabolism, 2014, v. 11, n. 1, p. 14, doi. 10.1186/1743-7075-11-14
- By:
- Publication type:
- Article
Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report.
- Published in:
- Pediatric Diabetes, 2014, v. 15, n. 8, p. 606, doi. 10.1111/pedi.12123
- By:
- Publication type:
- Article
Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 12, p. 1117, doi. 10.1507/endocrj.ej19-0183
- By:
- Publication type:
- Article
Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 3, p. 127, doi. 10.1297/cpe.30.127
- By:
- Publication type:
- Article
An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 3, p. 127, doi. 10.1297/cpe.29.127
- By:
- Publication type:
- Article
A case of pseudohypoparathyroidism type la with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy.
- Published in:
- Clinical Pediatric Endocrinology, 2019, v. 28, n. 1, p. 15, doi. 10.1297/cpe.28.15
- By:
- Publication type:
- Article
Decrement in bone mineral density after parathyroidectomy in a pediatric patient with primary hyperparathyroidism.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 953, doi. 10.1002/humu.23253
- By:
- Publication type:
- Article
High-fat diet accelerates extreme obesity with hyperphagia in female heterozygous Mecp2-null mice.
- Published in:
- PLoS ONE, 2019, v. 14, n. 01, p. 1, doi. 10.1371/journal.pone.0210184
- By:
- Publication type:
- Article
High-fat diet during pregnancy lowers fetal weight and has a long-lasting adverse effect on brown adipose tissue in the offspring.
- Published in:
- Journal of Developmental Origins of Health & Disease, 2023, v. 14, n. 2, p. 261, doi. 10.1017/S2040174422000551
- By:
- Publication type:
- Article
Erythropoietin (EPO) ameliorates obesity and glucose homeostasis by promoting thermogenesis and endocrine function of classical brown adipose tissue (BAT) in diet-induced obese mice.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173661
- By:
- Publication type:
- Article