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Pharmacogenomics of Alzheimer’s Disease: Novel Strategies for Drug Utilization and Development
Alzheimer’s disease (AD) is a priority health problem in developed countries with a high cost to society. Approximately 20% of direct costs are...
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Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
BackgroundThis study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small...
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New insights into the genetics of spermatogenic failure: a review of the literature
Genetic anomalies are known to affect about 15% of infertile patients with azoospermia or severe oligozoospermia. Despite a throughout diagnostic...
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Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR
Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a...
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Genomic alterations in gastric cancers discovered via whole-exome sequencing
BackgroundGastric cancer (GC) ranks the second in mortality rate among all cancers. Metastases account for most of the deaths in GC patients. Yet our...
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Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy (EIEE) is a devastating epilepsy syndrome with onset in the first months of life. Although mutations in more...
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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome
BackgroundPotocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism,...
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Timeline of Advances in Genetics of Primary Aldosteronism
The overwhelming majority of cases of primary aldosteronism (PA) occur sporadically due to a unilateral aldosterone-producing adenoma (APA) or...
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Chimeric transcripts resulting from complex duplications in chromosome Xq28
Gene fusions have been observed in somatic alterations in cancer and in schizophrenia. However, the underlying mechanism(s) for their formation are...
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22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency
Ovarian reserve represents the number of available follicles/oocytes within ovaries and it can be assessed by follicle stimulating hormone levels,...
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Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases
PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to...
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NAA10-related syndrome
NAA10 -related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10,...
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MECP2 duplication syndrome in a Chinese family
BackgroundMethyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the...
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Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review
BackgroundInt22h1/int22h2 -mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous...
