Baidu
map
筛选条件 共查询到20条结果
排序方式
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022; 14 (3)

Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotyp......

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022; 14 (1)

Objective: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH......

Sirolimus Therapy and Follow-up in a Patient with Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021; 13 (1)

Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. If the patient does not respond ......

6q25.1-q25.3 Microdeletion in a Chinese Girl

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2021; 13 (1)

Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, w......

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2020; 12 (2)

Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anteri......

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (4)

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disa......

JIF:1.28

Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (4)

Objective: To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from so......

JIF:1.28

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (2)

The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and i......

JIF:1.28

No Associations Between Serum Lipid Levels or HOMA-IR and Asthma in Children and Adolescents: A NHANES Analysis

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2019; 11 (3)

Objective: Studies have reported inconsistent results on the associations between lipids and insulin resistance (IR) and asthma. The purpose of this s......

JIF:1.28

Effect of Intrahepatic Cholestasis of Pregnancy on Neonatal Birth Weight: A Meta-Analysis

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (1)

Objective: To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) on neonatal birth weight. Methods: Potential articles were identified......

JIF:1.28

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (2)

Mutations in the insulin receptor (INSR) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a ......

JIF:1.28

The Association Between Maternal Subclinical Hypothyroidism and Growth, Development, and Childhood Intelligence: A Meta-analysis

期刊: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2018; 10 (2)

Objective: To explore the association between maternal subclinical hypothyroidism (SCH) in pregnancy and the somatic and intellectual development of t......

JIF:1.28

共20条页码: 1/2页15条/页
Baidu
map
Baidu
map
Baidu
map