- Treatment strategies targeting specific genetic etiologies in epilepsy
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Kim HJ, Kang HC
- KMID: 2517206
- J Genet Med.
- 2021 Jun;18(1):8-15.
- doi: 10.5734/JGM.2021.18.1.8
Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding... -
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- Psychological effects and risk perception after genetic counseling
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Shin S, Ryu MR, Kwon WK, Kim S, Jang JH, Kim JW
- KMID: 2517210
- J Genet Med.
- 2021 Jun;18(1):38-43.
- doi: 10.5734/JGM.2021.18.1.38
Purpose: Demand for genetic counseling on cancer predisposition syndrome is increasing. We evaluated the psychological effect on counselees after genetic counseling at a clinic in a single center. Materials and Methods:... -
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- West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy
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Choi SA, Kim YO
- KMID: 2517213
- J Genet Med.
- 2021 Jun;18(1):55-59.
- doi: 10.5734/JGM.2021.18.1.55
West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can... -
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- Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
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Bae S, Yang A, Ahn JH, Kim J, Park HK
- KMID: 2517214
- J Genet Med.
- 2021 Jun;18(1):60-63.
- doi: 10.5734/JGM.2021.18.1.60
Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental... -
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- Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes
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Shin YL
- KMID: 2517208
- J Genet Med.
- 2021 Jun;18(1):24-30.
- doi: 10.5734/JGM.2021.18.1.24
Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith–Wiedemann syndrome (BWS) and... -
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- The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
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Jang JA, Sohn YB, Lee JH, Park MS
- KMID: 2517212
- J Genet Med.
- 2021 Jun;18(1):48-54.
- doi: 10.5734/JGM.2021.18.1.48
Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies... -
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- Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
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Rahman MM, Fatema K
- KMID: 2517211
- J Genet Med.
- 2021 Jun;18(1):44-47.
- doi: 10.5734/JGM.2021.18.1.44
Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of... -
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- Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
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Park HS, Kim A, Shin KS, Son BR
- KMID: 2517209
- J Genet Med.
- 2021 Jun;18(1):31-37.
- doi: 10.5734/JGM.2021.18.1.31
Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in... -
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- GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
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Cho SY, Jin DK
- KMID: 2517207
- J Genet Med.
- 2021 Jun;18(1):16-23.
- doi: 10.5734/JGM.2021.18.1.16
GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous... -
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- Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization
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Yu EJ, Lyu SW
- KMID: 2517205
- J Genet Med.
- 2021 Jun;18(1):1-7.
- doi: 10.5734/JGM.2021.18.1.1
The oocyte quality is of great importance in infertility as it reflects the follicle developmental potential and further affects the embryo development, clinical pregnancy outcomes. The analysis of gene expression... -
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- Cohen–Gibson syndrome in a family: The first familial case report
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Kang YJ, Kim YO
- KMID: 2517216
- J Genet Med.
- 2021 Jun;18(1):70-74.
- doi: 10.5734/JGM.2021.18.1.70
Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to... -
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- A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
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Ahn JY, Kim SY, Lim BC, Kim KJ, Chae JH
- KMID: 2517215
- J Genet Med.
- 2021 Jun;18(1):64-69.
- doi: 10.5734/JGM.2021.18.1.64
Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic... -
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