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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
BackgroundDevelopmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been… Expand
The Fas/Fas Ligand Death Receptor Pathway Contributes to Phenylalanine-Induced Apoptosis in Cortical Neurons
Phenylketonuria (PKU), an autosomal recessive disorder of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, leads to childhood mental retardation by exposing… Expand
Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia
Aims: Hypophosphatasia, a rare inherited disease characterized by defective mineralization of bone and teeth, is caused by various mutations in the tissue-nonspecific isoenzyme of alkaline… Expand
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified… Expand
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
- Y. Yu, J. Wang, +6 authors Q. Fu
- Biology, Medicine
- Genetic testing and molecular biomarkers
- 27 February 2011
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we investigated the molecular… Expand
Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity
Objective To investigate potential functional variants in FTO and SH2B1 genes among Chinese children with obesity. Methods Sanger sequencing of PCR products of all FTO and SH2B1 exons and their… Expand
Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- Y. Ding, J. Li, +5 authors S. Liu
- Journal of pediatric endocrinology & metabolism…
- 28 March 2018
Abstract Background: This study aimed to identify the predictive value of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal (HPG) axis in girls. Methods:… Expand
Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial… Expand
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.
Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease. Mutations in the CYP11B2 gene are responsible for the occurrence of ASD, and the clinical manifestations of ASD… Expand
Turner syndrome caused by rare complex structural abnormalities involving chromosome X.
- N. Li, L. Zhao, +5 authors J. Wang
- Biology, Medicine
- Experimental and therapeutic medicine
- 1 September 2017
Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500… Expand